Key clinical point: Real-world treatment with guselkumab for ≥6 months was effective and safe in patients with longstanding active psoriatic arthritis (PsA) who had median disease duration of 6 years.

Major finding: Disease Activity Index for Psoriatic Arthritis (DAPSA) scores reduced significantly by 15.47 points in guselkumab-treated patients with PsA (P  =  .001), with 39.6% of patients achieving low disease activity, as assessed by achievement of DAPSA ≤ 14 at 6 months of follow-up. Guselkumab was well tolerated, with no reports of new safety signals.

Study details: This was a prospective real-world cohort study including 111 patients with active, longstanding PsA with a median disease duration of 6 years, who received guselkumab for ≥6 months.

Disclosures: This study did not receive any funding. The authors declared no conflicts of interest.

Source: Ruscitti P, Cataldi G, Gentile M, et al. The evaluation of effectiveness and safety of guselkumab in patients with psoriatic arthritis in a prospective multicentre "real-life" cohort study. Rheumatol Ther. 2024 (Mar 4). doi: 10.1007/s40744-024-00649-2 Source

Key clinical point: Real-world treatment with guselkumab for ≥6 months was effective and safe in patients with longstanding active psoriatic arthritis (PsA) who had median disease duration of 6 years.

Major finding: Disease Activity Index for Psoriatic Arthritis (DAPSA) scores reduced significantly by 15.47 points in guselkumab-treated patients with PsA (P  =  .001), with 39.6% of patients achieving low disease activity, as assessed by achievement of DAPSA ≤ 14 at 6 months of follow-up. Guselkumab was well tolerated, with no reports of new safety signals.

Study details: This was a prospective real-world cohort study including 111 patients with active, longstanding PsA with a median disease duration of 6 years, who received guselkumab for ≥6 months.

Disclosures: This study did not receive any funding. The authors declared no conflicts of interest.

Source: Ruscitti P, Cataldi G, Gentile M, et al. The evaluation of effectiveness and safety of guselkumab in patients with psoriatic arthritis in a prospective multicentre "real-life" cohort study. Rheumatol Ther. 2024 (Mar 4). doi: 10.1007/s40744-024-00649-2 Source

Key clinical point: Real-world treatment with guselkumab for ≥6 months was effective and safe in patients with longstanding active psoriatic arthritis (PsA) who had median disease duration of 6 years.

Major finding: Disease Activity Index for Psoriatic Arthritis (DAPSA) scores reduced significantly by 15.47 points in guselkumab-treated patients with PsA (P  =  .001), with 39.6% of patients achieving low disease activity, as assessed by achievement of DAPSA ≤ 14 at 6 months of follow-up. Guselkumab was well tolerated, with no reports of new safety signals.

Study details: This was a prospective real-world cohort study including 111 patients with active, longstanding PsA with a median disease duration of 6 years, who received guselkumab for ≥6 months.

Disclosures: This study did not receive any funding. The authors declared no conflicts of interest.

Source: Ruscitti P, Cataldi G, Gentile M, et al. The evaluation of effectiveness and safety of guselkumab in patients with psoriatic arthritis in a prospective multicentre "real-life" cohort study. Rheumatol Ther. 2024 (Mar 4). doi: 10.1007/s40744-024-00649-2 Source

Key clinical point: Guselkumab was more effective than ustekinumab in improving joint and skin outcomes in patients with psoriatic arthritis (PsA), regardless of prior exposure to biologics.

Major finding: A higher proportion of patients with prior exposure to biologics receiving guselkumab (dosage 100 mg/2 weeks or 100 mg/4 weeks) vs ustekinumab (dosage 45/90 mg) achieved the American College of Rheumatology-20 response (> 58% vs 35.6%) and Psoriasis Area Severity Index-90 response (> 50.0% vs 25.9%) at week 52, with similar outcomes in patients naive to biologics.

Study details: This study included pooled individual data from four trials of patients having PsA with (n  =  197) or without prior exposure to biologics (n  =  1170) who received either guselkumab or ustekinumab.

Disclosures: This study was sponsored by Janssen Research and Development (HEMAR Department, High Wycombe, United Kingdom). All authors reported being employees of Janssen Research and Development or EVERSANA, which received funding from Janssen Research and Development for this study.

Source: Thilakarathne P, Schubert A, Peterson S, et al. Comparing efficacy of guselkumab versus ustekinumab in patients with psoriatic arthritis: An adjusted comparison using individual patient data from the DISCOVER and PSUMMIT trials. Rheumatol Ther. 2024;11:457-474 (Feb 28). doi: 10.1007/s40744-024-00644-7 Source

Key clinical point: Guselkumab was more effective than ustekinumab in improving joint and skin outcomes in patients with psoriatic arthritis (PsA), regardless of prior exposure to biologics.

Major finding: A higher proportion of patients with prior exposure to biologics receiving guselkumab (dosage 100 mg/2 weeks or 100 mg/4 weeks) vs ustekinumab (dosage 45/90 mg) achieved the American College of Rheumatology-20 response (> 58% vs 35.6%) and Psoriasis Area Severity Index-90 response (> 50.0% vs 25.9%) at week 52, with similar outcomes in patients naive to biologics.

Study details: This study included pooled individual data from four trials of patients having PsA with (n  =  197) or without prior exposure to biologics (n  =  1170) who received either guselkumab or ustekinumab.

Disclosures: This study was sponsored by Janssen Research and Development (HEMAR Department, High Wycombe, United Kingdom). All authors reported being employees of Janssen Research and Development or EVERSANA, which received funding from Janssen Research and Development for this study.

Source: Thilakarathne P, Schubert A, Peterson S, et al. Comparing efficacy of guselkumab versus ustekinumab in patients with psoriatic arthritis: An adjusted comparison using individual patient data from the DISCOVER and PSUMMIT trials. Rheumatol Ther. 2024;11:457-474 (Feb 28). doi: 10.1007/s40744-024-00644-7 Source

Key clinical point: Guselkumab was more effective than ustekinumab in improving joint and skin outcomes in patients with psoriatic arthritis (PsA), regardless of prior exposure to biologics.

Major finding: A higher proportion of patients with prior exposure to biologics receiving guselkumab (dosage 100 mg/2 weeks or 100 mg/4 weeks) vs ustekinumab (dosage 45/90 mg) achieved the American College of Rheumatology-20 response (> 58% vs 35.6%) and Psoriasis Area Severity Index-90 response (> 50.0% vs 25.9%) at week 52, with similar outcomes in patients naive to biologics.

Study details: This study included pooled individual data from four trials of patients having PsA with (n  =  197) or without prior exposure to biologics (n  =  1170) who received either guselkumab or ustekinumab.

Disclosures: This study was sponsored by Janssen Research and Development (HEMAR Department, High Wycombe, United Kingdom). All authors reported being employees of Janssen Research and Development or EVERSANA, which received funding from Janssen Research and Development for this study.

Source: Thilakarathne P, Schubert A, Peterson S, et al. Comparing efficacy of guselkumab versus ustekinumab in patients with psoriatic arthritis: An adjusted comparison using individual patient data from the DISCOVER and PSUMMIT trials. Rheumatol Ther. 2024;11:457-474 (Feb 28). doi: 10.1007/s40744-024-00644-7 Source

Key clinical point: A long delay (>1 year) in diagnosing psoriatic arthritis (PsA) is associated with worse clinical outcomes, especially in women and patients with enthesitis, chronic back pain, and lower C-reactive protein (CRP) levels.

Major finding: Patients with a short (<12 weeks) vs long delay (>1 year) in PsA diagnosis after symptom onset was more likely to achieve minimum disease activity (odds ratio 2.55; 95% CI 1.37-4.76). Female sex, chronic back pain (age < 45 years), enthesitis, and lower CRP levels were associated with a diagnostic delay > 1 year in patients with PsA (all P < .05).

Study details: This study included 708 newly diagnosed patients with PsA who were followed up for ≥3 years; were naive to disease-modifying antirheumatic drugs; and were categorized into groups having short (n  =  136), intermediate (12 weeks to 1 year; n  =  237), or long (n  =  335) delay to diagnosis after symptom onset.

Disclosures: This study did not receive any funding. The authors declared no conflicts of interest.

Source: Snoeck Henkemans SVJ, de Jong PHP, Luime JJ, et al. Window of opportunity in psoriatic arthritis: The earlier the better? RMD Open. 2024;10:e004062 (Feb 27). doi: 10.1136/rmdopen-2023-004062 Source

Key clinical point: A long delay (>1 year) in diagnosing psoriatic arthritis (PsA) is associated with worse clinical outcomes, especially in women and patients with enthesitis, chronic back pain, and lower C-reactive protein (CRP) levels.

Major finding: Patients with a short (<12 weeks) vs long delay (>1 year) in PsA diagnosis after symptom onset was more likely to achieve minimum disease activity (odds ratio 2.55; 95% CI 1.37-4.76). Female sex, chronic back pain (age < 45 years), enthesitis, and lower CRP levels were associated with a diagnostic delay > 1 year in patients with PsA (all P < .05).

Study details: This study included 708 newly diagnosed patients with PsA who were followed up for ≥3 years; were naive to disease-modifying antirheumatic drugs; and were categorized into groups having short (n  =  136), intermediate (12 weeks to 1 year; n  =  237), or long (n  =  335) delay to diagnosis after symptom onset.

Disclosures: This study did not receive any funding. The authors declared no conflicts of interest.

Source: Snoeck Henkemans SVJ, de Jong PHP, Luime JJ, et al. Window of opportunity in psoriatic arthritis: The earlier the better? RMD Open. 2024;10:e004062 (Feb 27). doi: 10.1136/rmdopen-2023-004062 Source

Key clinical point: A long delay (>1 year) in diagnosing psoriatic arthritis (PsA) is associated with worse clinical outcomes, especially in women and patients with enthesitis, chronic back pain, and lower C-reactive protein (CRP) levels.

Major finding: Patients with a short (<12 weeks) vs long delay (>1 year) in PsA diagnosis after symptom onset was more likely to achieve minimum disease activity (odds ratio 2.55; 95% CI 1.37-4.76). Female sex, chronic back pain (age < 45 years), enthesitis, and lower CRP levels were associated with a diagnostic delay > 1 year in patients with PsA (all P < .05).

Study details: This study included 708 newly diagnosed patients with PsA who were followed up for ≥3 years; were naive to disease-modifying antirheumatic drugs; and were categorized into groups having short (n  =  136), intermediate (12 weeks to 1 year; n  =  237), or long (n  =  335) delay to diagnosis after symptom onset.

Disclosures: This study did not receive any funding. The authors declared no conflicts of interest.

Source: Snoeck Henkemans SVJ, de Jong PHP, Luime JJ, et al. Window of opportunity in psoriatic arthritis: The earlier the better? RMD Open. 2024;10:e004062 (Feb 27). doi: 10.1136/rmdopen-2023-004062 Source

Key clinical point: Higher relative abundance of gut microbiota belonging to family Rikenellaceae and an unidentified metabolite X-11538 were associated with a reduced risk for psoriatic arthritis (PsA), highlighting the potential of gut microbiota taxa and metabolites as biomarkers for treatment and prevention of PsA.

Major finding: Adjusted multivariable Mendelian randomization analysis showed that a higher relative abundance of microbiota belonging to the family Rikenellaceae (odds ratio [OR] 0.5; 95% CI 0.320-0.780) and elevated serum levels of X-11538 (OR 0.448; 95% CI 0.244-0.821) were causally associated with a reduced risk for PsA.

Study details: This Mendelian randomization study included summary level data of gut microbiota taxa (n  =  18,340), PsA (n  =  339,050), and metabolites (n  =  7824) from participants included in the MiBioGen consortium, FinnGen Biobank, and TwinsUK and KORA cohorts, respectively.

Disclosures: This study did not receive any funding. The authors declared no conflicts of interest.

Source: Xu X, Wu LY, Wang SY, et al. Investigating causal associations among gut microbiota, metabolites, and psoriatic arthritis: A Mendelian randomization study. Front Microbiol. 2024;15:1287637 (Feb 14). doi: 10.3389/fmicb.2024.1287637 Source

Key clinical point: Higher relative abundance of gut microbiota belonging to family Rikenellaceae and an unidentified metabolite X-11538 were associated with a reduced risk for psoriatic arthritis (PsA), highlighting the potential of gut microbiota taxa and metabolites as biomarkers for treatment and prevention of PsA.

Major finding: Adjusted multivariable Mendelian randomization analysis showed that a higher relative abundance of microbiota belonging to the family Rikenellaceae (odds ratio [OR] 0.5; 95% CI 0.320-0.780) and elevated serum levels of X-11538 (OR 0.448; 95% CI 0.244-0.821) were causally associated with a reduced risk for PsA.

Study details: This Mendelian randomization study included summary level data of gut microbiota taxa (n  =  18,340), PsA (n  =  339,050), and metabolites (n  =  7824) from participants included in the MiBioGen consortium, FinnGen Biobank, and TwinsUK and KORA cohorts, respectively.

Disclosures: This study did not receive any funding. The authors declared no conflicts of interest.

Source: Xu X, Wu LY, Wang SY, et al. Investigating causal associations among gut microbiota, metabolites, and psoriatic arthritis: A Mendelian randomization study. Front Microbiol. 2024;15:1287637 (Feb 14). doi: 10.3389/fmicb.2024.1287637 Source

Key clinical point: Higher relative abundance of gut microbiota belonging to family Rikenellaceae and an unidentified metabolite X-11538 were associated with a reduced risk for psoriatic arthritis (PsA), highlighting the potential of gut microbiota taxa and metabolites as biomarkers for treatment and prevention of PsA.

Major finding: Adjusted multivariable Mendelian randomization analysis showed that a higher relative abundance of microbiota belonging to the family Rikenellaceae (odds ratio [OR] 0.5; 95% CI 0.320-0.780) and elevated serum levels of X-11538 (OR 0.448; 95% CI 0.244-0.821) were causally associated with a reduced risk for PsA.

Study details: This Mendelian randomization study included summary level data of gut microbiota taxa (n  =  18,340), PsA (n  =  339,050), and metabolites (n  =  7824) from participants included in the MiBioGen consortium, FinnGen Biobank, and TwinsUK and KORA cohorts, respectively.

Disclosures: This study did not receive any funding. The authors declared no conflicts of interest.

Source: Xu X, Wu LY, Wang SY, et al. Investigating causal associations among gut microbiota, metabolites, and psoriatic arthritis: A Mendelian randomization study. Front Microbiol. 2024;15:1287637 (Feb 14). doi: 10.3389/fmicb.2024.1287637 Source

Key clinical point: Bimekizumab led to long-term improvements in efficacy outcomes and had a manageable safety profile in patients with active psoriatic arthritis (PsA) and prior inadequate response or intolerance to tumor necrosis factor inhibitors (TNFi-IR).

Major finding: At week 16, a significantly higher number of patients achieved ≥50% improvement in American College of Rheumatology response with bimekizumab vs placebo (43.4% vs 6.8%; P < .0001), with improvements sustained up to week 52 by >40% of patients receiving bimekizumab. No new safety signals were observed.

Study details: Findings are from the BE VITAL open-label extension study including 377 patients with active PsA and TNFi-IR who received bimekizumab or placebo for 16 weeks followed by only bimekizumab up to week 52.

Disclosures: This study was sponsored by UCB Pharma. Four authors reported being employees or shareholders of UCB Pharma. Several authors declared receiving research support or consulting fees or having other ties with various sources, including UCB Pharma.

Source: Coates LC, Landewe R, McInnes IB, et al. Bimekizumab treatment in patients with active psoriatic arthritis and prior inadequate response to tumour necrosis factor inhibitors: 52-week safety and efficacy from the phase III BE COMPLETE study and its open-label extension BE VITAL. RMD Open. 2024;10:e003855 (Feb 22). doi: 10.1136/rmdopen-2023-003855 Source

Key clinical point: Bimekizumab led to long-term improvements in efficacy outcomes and had a manageable safety profile in patients with active psoriatic arthritis (PsA) and prior inadequate response or intolerance to tumor necrosis factor inhibitors (TNFi-IR).

Major finding: At week 16, a significantly higher number of patients achieved ≥50% improvement in American College of Rheumatology response with bimekizumab vs placebo (43.4% vs 6.8%; P < .0001), with improvements sustained up to week 52 by >40% of patients receiving bimekizumab. No new safety signals were observed.

Study details: Findings are from the BE VITAL open-label extension study including 377 patients with active PsA and TNFi-IR who received bimekizumab or placebo for 16 weeks followed by only bimekizumab up to week 52.

Disclosures: This study was sponsored by UCB Pharma. Four authors reported being employees or shareholders of UCB Pharma. Several authors declared receiving research support or consulting fees or having other ties with various sources, including UCB Pharma.

Source: Coates LC, Landewe R, McInnes IB, et al. Bimekizumab treatment in patients with active psoriatic arthritis and prior inadequate response to tumour necrosis factor inhibitors: 52-week safety and efficacy from the phase III BE COMPLETE study and its open-label extension BE VITAL. RMD Open. 2024;10:e003855 (Feb 22). doi: 10.1136/rmdopen-2023-003855 Source

Key clinical point: Bimekizumab led to long-term improvements in efficacy outcomes and had a manageable safety profile in patients with active psoriatic arthritis (PsA) and prior inadequate response or intolerance to tumor necrosis factor inhibitors (TNFi-IR).

Major finding: At week 16, a significantly higher number of patients achieved ≥50% improvement in American College of Rheumatology response with bimekizumab vs placebo (43.4% vs 6.8%; P < .0001), with improvements sustained up to week 52 by >40% of patients receiving bimekizumab. No new safety signals were observed.

Study details: Findings are from the BE VITAL open-label extension study including 377 patients with active PsA and TNFi-IR who received bimekizumab or placebo for 16 weeks followed by only bimekizumab up to week 52.

Disclosures: This study was sponsored by UCB Pharma. Four authors reported being employees or shareholders of UCB Pharma. Several authors declared receiving research support or consulting fees or having other ties with various sources, including UCB Pharma.

Source: Coates LC, Landewe R, McInnes IB, et al. Bimekizumab treatment in patients with active psoriatic arthritis and prior inadequate response to tumour necrosis factor inhibitors: 52-week safety and efficacy from the phase III BE COMPLETE study and its open-label extension BE VITAL. RMD Open. 2024;10:e003855 (Feb 22). doi: 10.1136/rmdopen-2023-003855 Source

Key clinical point: The incidence rates of major adverse cardiovascular events (MACE) were similar in patients with psoriatic arthritis (PsA) and rheumatoid arthritis (RA), suggesting that both inflammatory disorders share a common atherogenic mechanism.

Major finding: After a total of 119,571 patient-years of follow-up, 6.7% of patients with RA or PsA developed MACE for the first time. The rates of MACE incidence (adjusted incidence rate ratio 0.96; P  =  .767) and MACE-free survival (P  =  .987) were comparable between patients with PsA and RA. Higher time-varying erythrocyte sedimentation rate, C-reactive protein levels, and exposure to glucocorticoids increased the risk for MACE in both patients with PsA and RA (all P < .05).

Study details: This population based retrospective cohort study included 13,905 patients with PsA (n  =  1672) or RA (n  =  12,233) who did not have any previous history of MACE.

Disclosures: This study did not receive any funding. The authors declared no conflicts of interest.

Source: Meng H, Lam SH, So H, Tam LS. Incidence and risk factors of major cardiovascular events in rheumatoid arthritis and psoriatic arthritis: A population-based cohort study. Semin Arthritis Rheum. 2024;65:152416 (Feb 17). Source

Key clinical point: The incidence rates of major adverse cardiovascular events (MACE) were similar in patients with psoriatic arthritis (PsA) and rheumatoid arthritis (RA), suggesting that both inflammatory disorders share a common atherogenic mechanism.

Major finding: After a total of 119,571 patient-years of follow-up, 6.7% of patients with RA or PsA developed MACE for the first time. The rates of MACE incidence (adjusted incidence rate ratio 0.96; P  =  .767) and MACE-free survival (P  =  .987) were comparable between patients with PsA and RA. Higher time-varying erythrocyte sedimentation rate, C-reactive protein levels, and exposure to glucocorticoids increased the risk for MACE in both patients with PsA and RA (all P < .05).

Study details: This population based retrospective cohort study included 13,905 patients with PsA (n  =  1672) or RA (n  =  12,233) who did not have any previous history of MACE.

Disclosures: This study did not receive any funding. The authors declared no conflicts of interest.

Source: Meng H, Lam SH, So H, Tam LS. Incidence and risk factors of major cardiovascular events in rheumatoid arthritis and psoriatic arthritis: A population-based cohort study. Semin Arthritis Rheum. 2024;65:152416 (Feb 17). Source

Key clinical point: The incidence rates of major adverse cardiovascular events (MACE) were similar in patients with psoriatic arthritis (PsA) and rheumatoid arthritis (RA), suggesting that both inflammatory disorders share a common atherogenic mechanism.

Major finding: After a total of 119,571 patient-years of follow-up, 6.7% of patients with RA or PsA developed MACE for the first time. The rates of MACE incidence (adjusted incidence rate ratio 0.96; P  =  .767) and MACE-free survival (P  =  .987) were comparable between patients with PsA and RA. Higher time-varying erythrocyte sedimentation rate, C-reactive protein levels, and exposure to glucocorticoids increased the risk for MACE in both patients with PsA and RA (all P < .05).

Study details: This population based retrospective cohort study included 13,905 patients with PsA (n  =  1672) or RA (n  =  12,233) who did not have any previous history of MACE.

Disclosures: This study did not receive any funding. The authors declared no conflicts of interest.

Source: Meng H, Lam SH, So H, Tam LS. Incidence and risk factors of major cardiovascular events in rheumatoid arthritis and psoriatic arthritis: A population-based cohort study. Semin Arthritis Rheum. 2024;65:152416 (Feb 17). Source

Key clinical point: Ixekizumab was more effective than adalimumab in resolving distal interphalangeal (DIP) joint tenderness, swelling, and adjacent nail psoriasis in patients with psoriatic arthritis (PsA) and DIP joint involvement who nearly invariably had adjacent nail psoriasis.

Major finding: More than 96% of patients with PsA and simultaneous DIP joint involvement reported adjacent nail psoriasis in at least one digit in the finger unit. Ixekizumab vs adalimumab led to greater improvements in DIP involvement and adjacent nail psoriasis as early as week 12 (38.8% vs 28.4%; P < .0001), with improvements sustained up to week 52 (64.9% vs 57.5%; P  =  .0055).

Study details: This post hoc analysis of the SPIRIT-H2H study included 354 patients with PsA who had simultaneous DIP joint involvement and adjacent nail psoriasis and were randomly assigned to receive ixekizumab or adalimumab.

Disclosures: This study was supported by Eli Lilly and Company. Four authors declared being employees and shareholders of Eli Lilly and Company. The other authors reported ties with various sources, including Eli Lilly and Company.

Source: McGonagle D, Kavanaugh A, McInnes IB, et al. Association of the clinical components in the distal interphalangeal joint synovio-entheseal complex and subsequent response to ixekizumab or adalimumab in psoriatic arthritis. Rheumatology (Oxford). 2024 (Feb 10). doi: 10.1093/rheumatology/keae060 Source

Key clinical point: Ixekizumab was more effective than adalimumab in resolving distal interphalangeal (DIP) joint tenderness, swelling, and adjacent nail psoriasis in patients with psoriatic arthritis (PsA) and DIP joint involvement who nearly invariably had adjacent nail psoriasis.

Major finding: More than 96% of patients with PsA and simultaneous DIP joint involvement reported adjacent nail psoriasis in at least one digit in the finger unit. Ixekizumab vs adalimumab led to greater improvements in DIP involvement and adjacent nail psoriasis as early as week 12 (38.8% vs 28.4%; P < .0001), with improvements sustained up to week 52 (64.9% vs 57.5%; P  =  .0055).

Study details: This post hoc analysis of the SPIRIT-H2H study included 354 patients with PsA who had simultaneous DIP joint involvement and adjacent nail psoriasis and were randomly assigned to receive ixekizumab or adalimumab.

Disclosures: This study was supported by Eli Lilly and Company. Four authors declared being employees and shareholders of Eli Lilly and Company. The other authors reported ties with various sources, including Eli Lilly and Company.

Source: McGonagle D, Kavanaugh A, McInnes IB, et al. Association of the clinical components in the distal interphalangeal joint synovio-entheseal complex and subsequent response to ixekizumab or adalimumab in psoriatic arthritis. Rheumatology (Oxford). 2024 (Feb 10). doi: 10.1093/rheumatology/keae060 Source

Key clinical point: Ixekizumab was more effective than adalimumab in resolving distal interphalangeal (DIP) joint tenderness, swelling, and adjacent nail psoriasis in patients with psoriatic arthritis (PsA) and DIP joint involvement who nearly invariably had adjacent nail psoriasis.

Major finding: More than 96% of patients with PsA and simultaneous DIP joint involvement reported adjacent nail psoriasis in at least one digit in the finger unit. Ixekizumab vs adalimumab led to greater improvements in DIP involvement and adjacent nail psoriasis as early as week 12 (38.8% vs 28.4%; P < .0001), with improvements sustained up to week 52 (64.9% vs 57.5%; P  =  .0055).

Study details: This post hoc analysis of the SPIRIT-H2H study included 354 patients with PsA who had simultaneous DIP joint involvement and adjacent nail psoriasis and were randomly assigned to receive ixekizumab or adalimumab.

Disclosures: This study was supported by Eli Lilly and Company. Four authors declared being employees and shareholders of Eli Lilly and Company. The other authors reported ties with various sources, including Eli Lilly and Company.

Source: McGonagle D, Kavanaugh A, McInnes IB, et al. Association of the clinical components in the distal interphalangeal joint synovio-entheseal complex and subsequent response to ixekizumab or adalimumab in psoriatic arthritis. Rheumatology (Oxford). 2024 (Feb 10). doi: 10.1093/rheumatology/keae060 Source

TOPLINE:

Researchers have developed a tool that uses artificial intelligence (AI) to identify acute otitis media in children based on otoscopic videos. It may improve diagnosis of ear infections in primary care settings, the developers said.

METHODOLOGY:

• The developers relied on otoscopic videos of the tympanic membrane captured on smartphones connected to scopes.
• Their analysis focused on 1151 videos from 635 children, most younger than 3 years old, who were seen for sick or well visits at outpatient clinics in Pennsylvania from 2018 to 2023.
• The tool was trained to differentiate between patients who did and did not have acute otitis media.

TAKEAWAY:

• Out of an original pool of 1561 videos, 410 were excluded due to obstruction by cerumen. In the remaining videos, experts identified acute otitis media in 305 videos (26.5%) and no acute otitis media in 846 videos (73.5%).
• The tool achieved a sensitivity of 93.8% and specificity of 93.5%, with bulging of the tympanic membrane being the most indicative feature of acute otitis media, present in 100% of diagnosed cases, according to the researchers.
• Feedback from 60 parents was largely positive, with 80% wanting the tool to be used during future visits.

IN PRACTICE:

Based on the diagnostic accuracy of clinicians in other studies, “The algorithm exhibited higher accuracy than pediatricians, primary care physicians, and advance practice clinicians and, accordingly, could reasonably be used in these settings to aid with decisions regarding treatment,” the authors of the study wrote. “More accurate diagnosis of [acute otitis media] may help reduce unnecessary prescriptions of antimicrobials in young children,” they added.

Studies directly comparing the performance of the tool vs clinicians are still needed, however, according to an editorial accompanying the journal article.

“While the data from this study show the model’s accuracy (94%) is superior to historical accuracy of clinicians in diagnosing acute otitis media (84% or less), these data come from different studies not using the same definition for accuracy,” wrote Hojjat Salmasian, MD, MPH, PhD, and Lisa Biggs, MD, with Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania. “If we assume the model is confirmed to be highly accurate and free from bias, this model could truly transform care for patients with suspected acute otitis media.”

SOURCE:

Alejandro Hoberman, MD, with the University of Pittsburgh Medical Center Children’s Hospital of Pittsburgh, Pittsburgh, Pennsylvania, was the corresponding author of the study. It was published online in JAMA Pediatrics .

LIMITATIONS:

The study used convenience sampling and did not include external validation of the tool. The researchers lacked information about participant demographics and the reason for their clinic visit.

DISCLOSURES:

Three authors of the study are listed as inventors on a patent for a tool to diagnose acute otitis media. Two authors with Dcipher Analytics disclosed fees from the University of Pittsburgh for their work on an application programming interface during the study. The research was supported by the Department of Pediatrics at the University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania.

This article was created using several editorial tools, including AI, as part of the process. Human editors reviewed this content before publication. A version of this article appeared on Medscape.com.

TOPLINE:

Researchers have developed a tool that uses artificial intelligence (AI) to identify acute otitis media in children based on otoscopic videos. It may improve diagnosis of ear infections in primary care settings, the developers said.

METHODOLOGY:

• The developers relied on otoscopic videos of the tympanic membrane captured on smartphones connected to scopes.
• Their analysis focused on 1151 videos from 635 children, most younger than 3 years old, who were seen for sick or well visits at outpatient clinics in Pennsylvania from 2018 to 2023.
• The tool was trained to differentiate between patients who did and did not have acute otitis media.

TAKEAWAY:

• Out of an original pool of 1561 videos, 410 were excluded due to obstruction by cerumen. In the remaining videos, experts identified acute otitis media in 305 videos (26.5%) and no acute otitis media in 846 videos (73.5%).
• The tool achieved a sensitivity of 93.8% and specificity of 93.5%, with bulging of the tympanic membrane being the most indicative feature of acute otitis media, present in 100% of diagnosed cases, according to the researchers.
• Feedback from 60 parents was largely positive, with 80% wanting the tool to be used during future visits.

IN PRACTICE:

Based on the diagnostic accuracy of clinicians in other studies, “The algorithm exhibited higher accuracy than pediatricians, primary care physicians, and advance practice clinicians and, accordingly, could reasonably be used in these settings to aid with decisions regarding treatment,” the authors of the study wrote. “More accurate diagnosis of [acute otitis media] may help reduce unnecessary prescriptions of antimicrobials in young children,” they added.

Studies directly comparing the performance of the tool vs clinicians are still needed, however, according to an editorial accompanying the journal article.

“While the data from this study show the model’s accuracy (94%) is superior to historical accuracy of clinicians in diagnosing acute otitis media (84% or less), these data come from different studies not using the same definition for accuracy,” wrote Hojjat Salmasian, MD, MPH, PhD, and Lisa Biggs, MD, with Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania. “If we assume the model is confirmed to be highly accurate and free from bias, this model could truly transform care for patients with suspected acute otitis media.”

SOURCE:

Alejandro Hoberman, MD, with the University of Pittsburgh Medical Center Children’s Hospital of Pittsburgh, Pittsburgh, Pennsylvania, was the corresponding author of the study. It was published online in JAMA Pediatrics .

LIMITATIONS:

The study used convenience sampling and did not include external validation of the tool. The researchers lacked information about participant demographics and the reason for their clinic visit.

DISCLOSURES:

Three authors of the study are listed as inventors on a patent for a tool to diagnose acute otitis media. Two authors with Dcipher Analytics disclosed fees from the University of Pittsburgh for their work on an application programming interface during the study. The research was supported by the Department of Pediatrics at the University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania.

This article was created using several editorial tools, including AI, as part of the process. Human editors reviewed this content before publication. A version of this article appeared on Medscape.com.

TOPLINE:

Researchers have developed a tool that uses artificial intelligence (AI) to identify acute otitis media in children based on otoscopic videos. It may improve diagnosis of ear infections in primary care settings, the developers said.

METHODOLOGY:

• The developers relied on otoscopic videos of the tympanic membrane captured on smartphones connected to scopes.
• Their analysis focused on 1151 videos from 635 children, most younger than 3 years old, who were seen for sick or well visits at outpatient clinics in Pennsylvania from 2018 to 2023.
• The tool was trained to differentiate between patients who did and did not have acute otitis media.

TAKEAWAY:

• Out of an original pool of 1561 videos, 410 were excluded due to obstruction by cerumen. In the remaining videos, experts identified acute otitis media in 305 videos (26.5%) and no acute otitis media in 846 videos (73.5%).
• The tool achieved a sensitivity of 93.8% and specificity of 93.5%, with bulging of the tympanic membrane being the most indicative feature of acute otitis media, present in 100% of diagnosed cases, according to the researchers.
• Feedback from 60 parents was largely positive, with 80% wanting the tool to be used during future visits.

IN PRACTICE:

Based on the diagnostic accuracy of clinicians in other studies, “The algorithm exhibited higher accuracy than pediatricians, primary care physicians, and advance practice clinicians and, accordingly, could reasonably be used in these settings to aid with decisions regarding treatment,” the authors of the study wrote. “More accurate diagnosis of [acute otitis media] may help reduce unnecessary prescriptions of antimicrobials in young children,” they added.

Studies directly comparing the performance of the tool vs clinicians are still needed, however, according to an editorial accompanying the journal article.

“While the data from this study show the model’s accuracy (94%) is superior to historical accuracy of clinicians in diagnosing acute otitis media (84% or less), these data come from different studies not using the same definition for accuracy,” wrote Hojjat Salmasian, MD, MPH, PhD, and Lisa Biggs, MD, with Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania. “If we assume the model is confirmed to be highly accurate and free from bias, this model could truly transform care for patients with suspected acute otitis media.”

SOURCE:

Alejandro Hoberman, MD, with the University of Pittsburgh Medical Center Children’s Hospital of Pittsburgh, Pittsburgh, Pennsylvania, was the corresponding author of the study. It was published online in JAMA Pediatrics .

LIMITATIONS:

The study used convenience sampling and did not include external validation of the tool. The researchers lacked information about participant demographics and the reason for their clinic visit.

DISCLOSURES:

Three authors of the study are listed as inventors on a patent for a tool to diagnose acute otitis media. Two authors with Dcipher Analytics disclosed fees from the University of Pittsburgh for their work on an application programming interface during the study. The research was supported by the Department of Pediatrics at the University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania.

This article was created using several editorial tools, including AI, as part of the process. Human editors reviewed this content before publication. A version of this article appeared on Medscape.com.

A wise medical precept is attributed to Theodore Woodward, MD (1914-2005): “When you hear hoofbeats, think of horses, not zebras.” Primary care pediatricians, however, often find themselves confronting so-called rare or uncommon diseases (“zebras”) in their offices. The pressing challenge is to know when to suspect them. How can one reconcile the need to dispel uncertainty with the use of diagnostic tests that can be costly and invasive? When can the desire to reassure parents mean delaying the detection of a potentially treatable condition?

“It may seem like wordplay, but it’s not uncommon to have a rare disease,” noted Alejandro Fainboim, MD, a specialist in rare diseases and head of the Multivalent Day Hospital at the Ricardo Gutiérrez Children’s Hospital in Buenos Aires, Argentina. “And pediatricians are the first line of defense in detecting these types of pathologies. To make the diagnosis, we have to consider them. And to consider them, we must be knowledgeable. That’s why sometimes, ignorance slows down the diagnosis,” Dr. Fainboim made his remarks during an online seminar organized for the press on the eve of Rare Disease Day, which is commemorated on February 29th.

There are more than 8000 rare diseases, which generally are defined as those affecting fewer than five people per 10,000. But collectively, one in every 13 people has one of these diseases, and one in every two diagnosed patients is a child. Dr. Fainboim emphasized that most of these rare diseases are severe or very severe, hereditary, degenerative, and potentially fatal. And although they are pediatric pathologies, some manifest later in adulthood.

“The major problem we pediatricians face is that we’re handed a model from adults to solve pediatric diseases. So, signs and symptoms are described that we won’t find early on, but we have to anticipate and learn to decode some that are hidden,” he remarked.

Diagnostic delays and repeated consultations with various doctors before identification are common. Dr. Fainboim added that in industrialized countries, the diagnosis of these diseases takes between 5 and 10 years, and in low-income countries, up to 30 years or more. However, “this has improved significantly in recent years,” he said.
 

Unnoticed Signs

Specialists who treat patients with rare diseases often feel that there were obvious signs that went unnoticed and should have aroused the suspicion of the primary care physician. An example is paroxysmal nocturnal hemoglobinuria, which affects 13-14 people per million inhabitants and can appear at any age, although the incidence is higher in the third decade of life.

“In my 50 years as a doctor, I’ve seen seven or eight patients with paroxysmal nocturnal hemoglobinuria,” said Elsa Nucifora, MD, a hematologist at the Italian Hospital of Buenos Aires, Argentina. But “the diagnosis is so easy” that doctors could make it if they “were to think instead of acting automatically because they’re in a hurry,” she added. The diagnosis should be considered “every time anemia occurs in a young person, with certain characteristics, instead of giving them iron like everyone else and ‘we’ll see later’…the diagnosis is in two or three steps, so it’s not complicated.”

Similar situations occur with more than 1000 neuromuscular diseases involving mutations in more than 600 genes, including spinal muscular atrophy and muscular dystrophies.

“What are the most common manifestations? The hypotonic infant, the child who walks late, who falls frequently, who can’t climb stairs, who later may have difficulty breathing, who loses strength: These are presentations often unrecognized by doctors not in the specialty,” said Alberto Dubrovsky, MD, director of the Department of Neurology and the Neuromuscular Diseases Unit at the Favaloro University Neuroscience Institute in Buenos Aires, Argentina, during the seminar. “And considering that these diseases are diagnosed based on genetic mutations that need to be known to search for and request them, we are faced with a truly complex scenario that requires subspecialization.”

In a study recently published in the Argentine Archives of Pediatrics, Dr. Dubrovsky and colleagues interviewed 112 families of Argentine patients with molecular diagnoses of spinal muscular atrophy types I, II, and III and found that in 75%-85% of cases, the first signs of the disease (such as hypotonia, developmental delay, inability to achieve bipedal standing, or frequent falls) were recognized by parents. For type I, the most severe and early onset, in only 17.5% of cases did a neonatologist or pediatrician first notice something. Of the 72 patients with types II and III, where routine checks are less frequent than in the first months of life, only one doctor detected the first signs of the disease before parents or other relatives.

In the same study, the median time elapsed between the first sign and confirmed molecular diagnosis was 2, 10, and 31.5 months for types I, II, and III, respectively. The delay “is primarily due to the lack of clinical suspicion on the part of the intervening physician, who often dismisses or misinterprets the signs reported by parents, as reflected in the alternative diagnoses invoked,” the authors wrote.

“I don’t even ask for suspicion of a specific rare disease because that requires specialization. What I ask for is a kind of recognition or realization that something is happening and then request a consultation with the specialist to ensure proper care,” said Dr. Dubrovsky.

In another study conducted among 70 Argentine patients under age 13 years who were diagnosed with Duchenne muscular dystrophy (one of the most severe forms of muscular dystrophy), 82% of the pediatricians who were initially consulted for any problem in motor agility that parents, other relatives, or teachers had detected dismissed the observation. “They’re told to wait, that it will mature a little more,” said Dr. Dubrovsky. This explains why the time to diagnosis in Argentina from the first signs is around 2 years. The delays are unfortunate because “today we have treatments capable of interfering with the disease’s progression slope, reducing its progression, or eventually stopping it,” he said.

“Do you mind that primary care pediatricians don’t notice or dismiss signs and symptoms strongly suggestive of one of these rare diseases? Does it frustrate you?” this news organization asked asked Dr. Dubrovsky. “Sometimes it does make me angry, but many times it’s understood that there can’t be highly trained specialists everywhere to realize and request diagnostic tests. One must consider the circumstances in each case, and that’s why we work in education,” he replied.
 

Rules and Experience

In an interview, Dr. Fainboim highlighted key factors that should prompt a pediatrician’s suspicion. One is common symptoms expressed in a more intense or complicated way or when many symptoms coexist in the same patient, even if each one separately is benign or not so severe.

Dr. Fainboim also recommended establishing a therapeutic alliance with parents. “We shouldn’t undermine what parents say, especially those who have other children and already know what normal child development is like. This is a very important milestone.

“We have to strengthen the suspicion clue, and for that, we rely on standards and our experience, which we keep refining. As Wilde said, experience is the sum of our mistakes. But there’s no universal answer. Not all families are the same. Not all diseases manifest in the same way. And unless there’s an imminent risk to life or function, one can wait and take the time to evaluate it. For example, if I have a child with slowed developmental milestones, what I have to do is teach how to stimulate them or send them for stimulation with another professional. And I observe the response to this initial basic treatment. If I see no response, the alarms start to grow louder,” said Dr. Fainboim.

Pablo Barvosa, MD, the principal physician in the outpatient area of the Juan P. Garrahan Pediatric Hospital in Buenos Aires, Argentina, and a member of the Working Group on Genetics and Rare Diseases of the Argentine Society of Pediatrics, told this news organization about other factors that should be considered for detecting these pathologies. Dr. Barvosa did not participate in the online seminar.

“Patients with rare diseases have common symptoms. What needs to be done is to prioritize those symptoms that behave abnormally, that have an unusual evolution compared with normal situations. For example, children who go into a coma after a fasting episode or after eating a certain food,” he said.

Dr. Barvosa also suggested considering when patients belong to certain communities where there is a lot of endogamy, due to the higher incidence of hereditary diseases. “Attention should be heightened when parents are cousins or relatives,” he pointed out.

“My view is that doctors should think more and better, be rational, sequential. If a disease is treated and resolved, but we find out that the child had 26 previous hospitalizations in the last 2 years, something is wrong. We have to look at the patient’s and family’s life histories. If a mother had 15 miscarriages, that’s a warning sign. We have to find a common thread. Be a sharp-witted pediatrician,” said Dr. Barvosa.

The suspicion and diagnosis of a rare disease can be devastating for families and painful for the professional, but even if there is no specific treatment, “something can always be done for patients,” he added.

And in certain circumstances, identifying a rare disease can reverse the ominous “stamp” of a wrong diagnosis. Dr. Barvosa commented on the case of a 7-year-old boy he attended at the hospital in 2014. The boy presented as quadriplegic, with no mobility in his limbs, and the parents were convinced he had that condition because he had fallen from the roof of the house. Although imaging techniques did not show a spinal injury, it was assumed to be a case of spinal cord injury without radiographic abnormality. But something caught Dr. Barvosa’s attention: The boy had well-developed abdominal muscles, as if he were an athlete. So, he requested an electromyogram, and the muscle was found to be in permanent contraction.

“The patient didn’t have a spinal cord injury: He had Isaacs’ syndrome,” said Dr. Barvosa. The syndrome also is known as acquired neuromyotonia, a rare condition of hyperexcitability of peripheral nerves that activate muscle fibers. “That is treated with anticonvulsants, such as phenytoin. Within a week, he was walking again, and shortly after, he was playing soccer. When I presented the case at a conference, I cried with emotion. That’s why the pediatrician must be insistent, be like the gadfly that stings in the ear” when there are clinical elements that don’t quite fit into a clear diagnosis, he added.

In recent publications, Dr. Dubrovsky has reported receiving fees for consultations or research from PTC, Sarepta, Biogen, Sanofi Genzyme, Takeda Avexis, Novartis, Raffo, and Roche. Dr. Nucifora has received fees from Jansen LATAM. Dr. Fainboim reported receiving fees from Sanofi. Dr. Barvosa has declared no relevant financial conflicts of interest. The webinar was organized by Urban Comunicaciones.
 

This story was translated from the Medscape Spanish edition using several editorial tools, including AI, as part of the process. Human editors reviewed this content before publication. A version of this article appeared on Medscape.com.

A wise medical precept is attributed to Theodore Woodward, MD (1914-2005): “When you hear hoofbeats, think of horses, not zebras.” Primary care pediatricians, however, often find themselves confronting so-called rare or uncommon diseases (“zebras”) in their offices. The pressing challenge is to know when to suspect them. How can one reconcile the need to dispel uncertainty with the use of diagnostic tests that can be costly and invasive? When can the desire to reassure parents mean delaying the detection of a potentially treatable condition?

“It may seem like wordplay, but it’s not uncommon to have a rare disease,” noted Alejandro Fainboim, MD, a specialist in rare diseases and head of the Multivalent Day Hospital at the Ricardo Gutiérrez Children’s Hospital in Buenos Aires, Argentina. “And pediatricians are the first line of defense in detecting these types of pathologies. To make the diagnosis, we have to consider them. And to consider them, we must be knowledgeable. That’s why sometimes, ignorance slows down the diagnosis,” Dr. Fainboim made his remarks during an online seminar organized for the press on the eve of Rare Disease Day, which is commemorated on February 29th.

There are more than 8000 rare diseases, which generally are defined as those affecting fewer than five people per 10,000. But collectively, one in every 13 people has one of these diseases, and one in every two diagnosed patients is a child. Dr. Fainboim emphasized that most of these rare diseases are severe or very severe, hereditary, degenerative, and potentially fatal. And although they are pediatric pathologies, some manifest later in adulthood.

“The major problem we pediatricians face is that we’re handed a model from adults to solve pediatric diseases. So, signs and symptoms are described that we won’t find early on, but we have to anticipate and learn to decode some that are hidden,” he remarked.

Diagnostic delays and repeated consultations with various doctors before identification are common. Dr. Fainboim added that in industrialized countries, the diagnosis of these diseases takes between 5 and 10 years, and in low-income countries, up to 30 years or more. However, “this has improved significantly in recent years,” he said.
 

Unnoticed Signs

Specialists who treat patients with rare diseases often feel that there were obvious signs that went unnoticed and should have aroused the suspicion of the primary care physician. An example is paroxysmal nocturnal hemoglobinuria, which affects 13-14 people per million inhabitants and can appear at any age, although the incidence is higher in the third decade of life.

“In my 50 years as a doctor, I’ve seen seven or eight patients with paroxysmal nocturnal hemoglobinuria,” said Elsa Nucifora, MD, a hematologist at the Italian Hospital of Buenos Aires, Argentina. But “the diagnosis is so easy” that doctors could make it if they “were to think instead of acting automatically because they’re in a hurry,” she added. The diagnosis should be considered “every time anemia occurs in a young person, with certain characteristics, instead of giving them iron like everyone else and ‘we’ll see later’…the diagnosis is in two or three steps, so it’s not complicated.”

Similar situations occur with more than 1000 neuromuscular diseases involving mutations in more than 600 genes, including spinal muscular atrophy and muscular dystrophies.

“What are the most common manifestations? The hypotonic infant, the child who walks late, who falls frequently, who can’t climb stairs, who later may have difficulty breathing, who loses strength: These are presentations often unrecognized by doctors not in the specialty,” said Alberto Dubrovsky, MD, director of the Department of Neurology and the Neuromuscular Diseases Unit at the Favaloro University Neuroscience Institute in Buenos Aires, Argentina, during the seminar. “And considering that these diseases are diagnosed based on genetic mutations that need to be known to search for and request them, we are faced with a truly complex scenario that requires subspecialization.”

In a study recently published in the Argentine Archives of Pediatrics, Dr. Dubrovsky and colleagues interviewed 112 families of Argentine patients with molecular diagnoses of spinal muscular atrophy types I, II, and III and found that in 75%-85% of cases, the first signs of the disease (such as hypotonia, developmental delay, inability to achieve bipedal standing, or frequent falls) were recognized by parents. For type I, the most severe and early onset, in only 17.5% of cases did a neonatologist or pediatrician first notice something. Of the 72 patients with types II and III, where routine checks are less frequent than in the first months of life, only one doctor detected the first signs of the disease before parents or other relatives.

In the same study, the median time elapsed between the first sign and confirmed molecular diagnosis was 2, 10, and 31.5 months for types I, II, and III, respectively. The delay “is primarily due to the lack of clinical suspicion on the part of the intervening physician, who often dismisses or misinterprets the signs reported by parents, as reflected in the alternative diagnoses invoked,” the authors wrote.

“I don’t even ask for suspicion of a specific rare disease because that requires specialization. What I ask for is a kind of recognition or realization that something is happening and then request a consultation with the specialist to ensure proper care,” said Dr. Dubrovsky.

In another study conducted among 70 Argentine patients under age 13 years who were diagnosed with Duchenne muscular dystrophy (one of the most severe forms of muscular dystrophy), 82% of the pediatricians who were initially consulted for any problem in motor agility that parents, other relatives, or teachers had detected dismissed the observation. “They’re told to wait, that it will mature a little more,” said Dr. Dubrovsky. This explains why the time to diagnosis in Argentina from the first signs is around 2 years. The delays are unfortunate because “today we have treatments capable of interfering with the disease’s progression slope, reducing its progression, or eventually stopping it,” he said.

“Do you mind that primary care pediatricians don’t notice or dismiss signs and symptoms strongly suggestive of one of these rare diseases? Does it frustrate you?” this news organization asked asked Dr. Dubrovsky. “Sometimes it does make me angry, but many times it’s understood that there can’t be highly trained specialists everywhere to realize and request diagnostic tests. One must consider the circumstances in each case, and that’s why we work in education,” he replied.
 

Rules and Experience

In an interview, Dr. Fainboim highlighted key factors that should prompt a pediatrician’s suspicion. One is common symptoms expressed in a more intense or complicated way or when many symptoms coexist in the same patient, even if each one separately is benign or not so severe.

Dr. Fainboim also recommended establishing a therapeutic alliance with parents. “We shouldn’t undermine what parents say, especially those who have other children and already know what normal child development is like. This is a very important milestone.

“We have to strengthen the suspicion clue, and for that, we rely on standards and our experience, which we keep refining. As Wilde said, experience is the sum of our mistakes. But there’s no universal answer. Not all families are the same. Not all diseases manifest in the same way. And unless there’s an imminent risk to life or function, one can wait and take the time to evaluate it. For example, if I have a child with slowed developmental milestones, what I have to do is teach how to stimulate them or send them for stimulation with another professional. And I observe the response to this initial basic treatment. If I see no response, the alarms start to grow louder,” said Dr. Fainboim.

Pablo Barvosa, MD, the principal physician in the outpatient area of the Juan P. Garrahan Pediatric Hospital in Buenos Aires, Argentina, and a member of the Working Group on Genetics and Rare Diseases of the Argentine Society of Pediatrics, told this news organization about other factors that should be considered for detecting these pathologies. Dr. Barvosa did not participate in the online seminar.

“Patients with rare diseases have common symptoms. What needs to be done is to prioritize those symptoms that behave abnormally, that have an unusual evolution compared with normal situations. For example, children who go into a coma after a fasting episode or after eating a certain food,” he said.

Dr. Barvosa also suggested considering when patients belong to certain communities where there is a lot of endogamy, due to the higher incidence of hereditary diseases. “Attention should be heightened when parents are cousins or relatives,” he pointed out.

“My view is that doctors should think more and better, be rational, sequential. If a disease is treated and resolved, but we find out that the child had 26 previous hospitalizations in the last 2 years, something is wrong. We have to look at the patient’s and family’s life histories. If a mother had 15 miscarriages, that’s a warning sign. We have to find a common thread. Be a sharp-witted pediatrician,” said Dr. Barvosa.

The suspicion and diagnosis of a rare disease can be devastating for families and painful for the professional, but even if there is no specific treatment, “something can always be done for patients,” he added.

And in certain circumstances, identifying a rare disease can reverse the ominous “stamp” of a wrong diagnosis. Dr. Barvosa commented on the case of a 7-year-old boy he attended at the hospital in 2014. The boy presented as quadriplegic, with no mobility in his limbs, and the parents were convinced he had that condition because he had fallen from the roof of the house. Although imaging techniques did not show a spinal injury, it was assumed to be a case of spinal cord injury without radiographic abnormality. But something caught Dr. Barvosa’s attention: The boy had well-developed abdominal muscles, as if he were an athlete. So, he requested an electromyogram, and the muscle was found to be in permanent contraction.

“The patient didn’t have a spinal cord injury: He had Isaacs’ syndrome,” said Dr. Barvosa. The syndrome also is known as acquired neuromyotonia, a rare condition of hyperexcitability of peripheral nerves that activate muscle fibers. “That is treated with anticonvulsants, such as phenytoin. Within a week, he was walking again, and shortly after, he was playing soccer. When I presented the case at a conference, I cried with emotion. That’s why the pediatrician must be insistent, be like the gadfly that stings in the ear” when there are clinical elements that don’t quite fit into a clear diagnosis, he added.

In recent publications, Dr. Dubrovsky has reported receiving fees for consultations or research from PTC, Sarepta, Biogen, Sanofi Genzyme, Takeda Avexis, Novartis, Raffo, and Roche. Dr. Nucifora has received fees from Jansen LATAM. Dr. Fainboim reported receiving fees from Sanofi. Dr. Barvosa has declared no relevant financial conflicts of interest. The webinar was organized by Urban Comunicaciones.
 

This story was translated from the Medscape Spanish edition using several editorial tools, including AI, as part of the process. Human editors reviewed this content before publication. A version of this article appeared on Medscape.com.

A wise medical precept is attributed to Theodore Woodward, MD (1914-2005): “When you hear hoofbeats, think of horses, not zebras.” Primary care pediatricians, however, often find themselves confronting so-called rare or uncommon diseases (“zebras”) in their offices. The pressing challenge is to know when to suspect them. How can one reconcile the need to dispel uncertainty with the use of diagnostic tests that can be costly and invasive? When can the desire to reassure parents mean delaying the detection of a potentially treatable condition?

“It may seem like wordplay, but it’s not uncommon to have a rare disease,” noted Alejandro Fainboim, MD, a specialist in rare diseases and head of the Multivalent Day Hospital at the Ricardo Gutiérrez Children’s Hospital in Buenos Aires, Argentina. “And pediatricians are the first line of defense in detecting these types of pathologies. To make the diagnosis, we have to consider them. And to consider them, we must be knowledgeable. That’s why sometimes, ignorance slows down the diagnosis,” Dr. Fainboim made his remarks during an online seminar organized for the press on the eve of Rare Disease Day, which is commemorated on February 29th.

There are more than 8000 rare diseases, which generally are defined as those affecting fewer than five people per 10,000. But collectively, one in every 13 people has one of these diseases, and one in every two diagnosed patients is a child. Dr. Fainboim emphasized that most of these rare diseases are severe or very severe, hereditary, degenerative, and potentially fatal. And although they are pediatric pathologies, some manifest later in adulthood.

“The major problem we pediatricians face is that we’re handed a model from adults to solve pediatric diseases. So, signs and symptoms are described that we won’t find early on, but we have to anticipate and learn to decode some that are hidden,” he remarked.

Diagnostic delays and repeated consultations with various doctors before identification are common. Dr. Fainboim added that in industrialized countries, the diagnosis of these diseases takes between 5 and 10 years, and in low-income countries, up to 30 years or more. However, “this has improved significantly in recent years,” he said.
 

Unnoticed Signs

Specialists who treat patients with rare diseases often feel that there were obvious signs that went unnoticed and should have aroused the suspicion of the primary care physician. An example is paroxysmal nocturnal hemoglobinuria, which affects 13-14 people per million inhabitants and can appear at any age, although the incidence is higher in the third decade of life.

“In my 50 years as a doctor, I’ve seen seven or eight patients with paroxysmal nocturnal hemoglobinuria,” said Elsa Nucifora, MD, a hematologist at the Italian Hospital of Buenos Aires, Argentina. But “the diagnosis is so easy” that doctors could make it if they “were to think instead of acting automatically because they’re in a hurry,” she added. The diagnosis should be considered “every time anemia occurs in a young person, with certain characteristics, instead of giving them iron like everyone else and ‘we’ll see later’…the diagnosis is in two or three steps, so it’s not complicated.”

Similar situations occur with more than 1000 neuromuscular diseases involving mutations in more than 600 genes, including spinal muscular atrophy and muscular dystrophies.

“What are the most common manifestations? The hypotonic infant, the child who walks late, who falls frequently, who can’t climb stairs, who later may have difficulty breathing, who loses strength: These are presentations often unrecognized by doctors not in the specialty,” said Alberto Dubrovsky, MD, director of the Department of Neurology and the Neuromuscular Diseases Unit at the Favaloro University Neuroscience Institute in Buenos Aires, Argentina, during the seminar. “And considering that these diseases are diagnosed based on genetic mutations that need to be known to search for and request them, we are faced with a truly complex scenario that requires subspecialization.”

In a study recently published in the Argentine Archives of Pediatrics, Dr. Dubrovsky and colleagues interviewed 112 families of Argentine patients with molecular diagnoses of spinal muscular atrophy types I, II, and III and found that in 75%-85% of cases, the first signs of the disease (such as hypotonia, developmental delay, inability to achieve bipedal standing, or frequent falls) were recognized by parents. For type I, the most severe and early onset, in only 17.5% of cases did a neonatologist or pediatrician first notice something. Of the 72 patients with types II and III, where routine checks are less frequent than in the first months of life, only one doctor detected the first signs of the disease before parents or other relatives.

In the same study, the median time elapsed between the first sign and confirmed molecular diagnosis was 2, 10, and 31.5 months for types I, II, and III, respectively. The delay “is primarily due to the lack of clinical suspicion on the part of the intervening physician, who often dismisses or misinterprets the signs reported by parents, as reflected in the alternative diagnoses invoked,” the authors wrote.

“I don’t even ask for suspicion of a specific rare disease because that requires specialization. What I ask for is a kind of recognition or realization that something is happening and then request a consultation with the specialist to ensure proper care,” said Dr. Dubrovsky.

In another study conducted among 70 Argentine patients under age 13 years who were diagnosed with Duchenne muscular dystrophy (one of the most severe forms of muscular dystrophy), 82% of the pediatricians who were initially consulted for any problem in motor agility that parents, other relatives, or teachers had detected dismissed the observation. “They’re told to wait, that it will mature a little more,” said Dr. Dubrovsky. This explains why the time to diagnosis in Argentina from the first signs is around 2 years. The delays are unfortunate because “today we have treatments capable of interfering with the disease’s progression slope, reducing its progression, or eventually stopping it,” he said.

“Do you mind that primary care pediatricians don’t notice or dismiss signs and symptoms strongly suggestive of one of these rare diseases? Does it frustrate you?” this news organization asked asked Dr. Dubrovsky. “Sometimes it does make me angry, but many times it’s understood that there can’t be highly trained specialists everywhere to realize and request diagnostic tests. One must consider the circumstances in each case, and that’s why we work in education,” he replied.
 

Rules and Experience

In an interview, Dr. Fainboim highlighted key factors that should prompt a pediatrician’s suspicion. One is common symptoms expressed in a more intense or complicated way or when many symptoms coexist in the same patient, even if each one separately is benign or not so severe.

Dr. Fainboim also recommended establishing a therapeutic alliance with parents. “We shouldn’t undermine what parents say, especially those who have other children and already know what normal child development is like. This is a very important milestone.

“We have to strengthen the suspicion clue, and for that, we rely on standards and our experience, which we keep refining. As Wilde said, experience is the sum of our mistakes. But there’s no universal answer. Not all families are the same. Not all diseases manifest in the same way. And unless there’s an imminent risk to life or function, one can wait and take the time to evaluate it. For example, if I have a child with slowed developmental milestones, what I have to do is teach how to stimulate them or send them for stimulation with another professional. And I observe the response to this initial basic treatment. If I see no response, the alarms start to grow louder,” said Dr. Fainboim.

Pablo Barvosa, MD, the principal physician in the outpatient area of the Juan P. Garrahan Pediatric Hospital in Buenos Aires, Argentina, and a member of the Working Group on Genetics and Rare Diseases of the Argentine Society of Pediatrics, told this news organization about other factors that should be considered for detecting these pathologies. Dr. Barvosa did not participate in the online seminar.

“Patients with rare diseases have common symptoms. What needs to be done is to prioritize those symptoms that behave abnormally, that have an unusual evolution compared with normal situations. For example, children who go into a coma after a fasting episode or after eating a certain food,” he said.

Dr. Barvosa also suggested considering when patients belong to certain communities where there is a lot of endogamy, due to the higher incidence of hereditary diseases. “Attention should be heightened when parents are cousins or relatives,” he pointed out.

“My view is that doctors should think more and better, be rational, sequential. If a disease is treated and resolved, but we find out that the child had 26 previous hospitalizations in the last 2 years, something is wrong. We have to look at the patient’s and family’s life histories. If a mother had 15 miscarriages, that’s a warning sign. We have to find a common thread. Be a sharp-witted pediatrician,” said Dr. Barvosa.

The suspicion and diagnosis of a rare disease can be devastating for families and painful for the professional, but even if there is no specific treatment, “something can always be done for patients,” he added.

And in certain circumstances, identifying a rare disease can reverse the ominous “stamp” of a wrong diagnosis. Dr. Barvosa commented on the case of a 7-year-old boy he attended at the hospital in 2014. The boy presented as quadriplegic, with no mobility in his limbs, and the parents were convinced he had that condition because he had fallen from the roof of the house. Although imaging techniques did not show a spinal injury, it was assumed to be a case of spinal cord injury without radiographic abnormality. But something caught Dr. Barvosa’s attention: The boy had well-developed abdominal muscles, as if he were an athlete. So, he requested an electromyogram, and the muscle was found to be in permanent contraction.

“The patient didn’t have a spinal cord injury: He had Isaacs’ syndrome,” said Dr. Barvosa. The syndrome also is known as acquired neuromyotonia, a rare condition of hyperexcitability of peripheral nerves that activate muscle fibers. “That is treated with anticonvulsants, such as phenytoin. Within a week, he was walking again, and shortly after, he was playing soccer. When I presented the case at a conference, I cried with emotion. That’s why the pediatrician must be insistent, be like the gadfly that stings in the ear” when there are clinical elements that don’t quite fit into a clear diagnosis, he added.

In recent publications, Dr. Dubrovsky has reported receiving fees for consultations or research from PTC, Sarepta, Biogen, Sanofi Genzyme, Takeda Avexis, Novartis, Raffo, and Roche. Dr. Nucifora has received fees from Jansen LATAM. Dr. Fainboim reported receiving fees from Sanofi. Dr. Barvosa has declared no relevant financial conflicts of interest. The webinar was organized by Urban Comunicaciones.
 

This story was translated from the Medscape Spanish edition using several editorial tools, including AI, as part of the process. Human editors reviewed this content before publication. A version of this article appeared on Medscape.com.

TOPLINE:

Topical calcineurin inhibitors (TCIs), topical corticosteroids (TCSs), and topical Janus kinase (JAK) inhibitors are supported as mainstay treatments in new expert recommendations on the use of topical therapeutics in children, adolescents, and young adults with vitiligo.

METHODOLOGY:

• While half of all vitiligo cases manifest within the initial two decades of life, no guidelines specifically address the management of vitiligo in children, adolescents, and young adults with vitiligo.
• A protocol was established to formulate consensus recommendations addressing questions related to pediatric vitiligo.
• Overall, 50 articles on topical corticosteroids and/or topical calcineurin inhibitors, five on topical Janus kinase inhibitors, and two each on pseudocatalase and microdermabrasion were included.
• The participants recorded their agreement levels with the formulated statements, using a 5-point Likert scale.

TAKEAWAY:

• TCIs, TCSs, JAK inhibitors, and phototherapy, specifically narrowband ultraviolet (UV)-B light therapy, are mainstay treatments; the combination of UV-B light and topical therapy may enhance initial repigmentation.
• Long-term monitoring for skin cancers is advised, and short outdoor UV exposure is suggested for pediatric patients.
• TCIs, such as tacrolimus and pimecrolimus, are recommended as first-line therapy, particularly on the face, applied twice daily for ≥ 3 months; continued use for 6-12 additional months is recommended if repigmentation is observed.
• The choice of TCS class depends on the site and planned usage duration. Short-term use or overlap with TCIs is recommended because of the risk for atrophy with long-term TCS use. Class 5-6 agents are another option.
• For areas with thin skin, TCSs can be considered second-line treatments.
• Topical JAK inhibitors, specifically topical 1.5% ruxolitinib cream, are recommended for patients aged ≥ 12 years, as first- or second-line therapy. Limitation to 10% body surface area is recommended to minimize systemic absorption. Limited evidence exists for children aged < 12 years.

IN PRACTICE:

“Effective therapy requires a focus on long-term therapeutic interventions to maximize the local gain and retention of pigmentation with a trial period of twice-weekly application. Counseling should include discussion of the chronicity of vitiligo and the need for long-term care,” the authors wrote.

LIMITATIONS:

Some of the recommendations were opinion-based because of the scarcity of evidence-based literature.

SOURCE:

The consensus statement was published on March 13 in JAMA Dermatology.

DISCLOSURES:

This work was supported by grants from Vitiligo Research Foundation and Incyte Pharmaceuticals. The majority of authors disclosed financial relationships outside this work; several reported no disclosures.

A version of this article appeared on Medscape.com.

TOPLINE:

Topical calcineurin inhibitors (TCIs), topical corticosteroids (TCSs), and topical Janus kinase (JAK) inhibitors are supported as mainstay treatments in new expert recommendations on the use of topical therapeutics in children, adolescents, and young adults with vitiligo.

METHODOLOGY:

• While half of all vitiligo cases manifest within the initial two decades of life, no guidelines specifically address the management of vitiligo in children, adolescents, and young adults with vitiligo.
• A protocol was established to formulate consensus recommendations addressing questions related to pediatric vitiligo.
• Overall, 50 articles on topical corticosteroids and/or topical calcineurin inhibitors, five on topical Janus kinase inhibitors, and two each on pseudocatalase and microdermabrasion were included.
• The participants recorded their agreement levels with the formulated statements, using a 5-point Likert scale.

TAKEAWAY:

• TCIs, TCSs, JAK inhibitors, and phototherapy, specifically narrowband ultraviolet (UV)-B light therapy, are mainstay treatments; the combination of UV-B light and topical therapy may enhance initial repigmentation.
• Long-term monitoring for skin cancers is advised, and short outdoor UV exposure is suggested for pediatric patients.
• TCIs, such as tacrolimus and pimecrolimus, are recommended as first-line therapy, particularly on the face, applied twice daily for ≥ 3 months; continued use for 6-12 additional months is recommended if repigmentation is observed.
• The choice of TCS class depends on the site and planned usage duration. Short-term use or overlap with TCIs is recommended because of the risk for atrophy with long-term TCS use. Class 5-6 agents are another option.
• For areas with thin skin, TCSs can be considered second-line treatments.
• Topical JAK inhibitors, specifically topical 1.5% ruxolitinib cream, are recommended for patients aged ≥ 12 years, as first- or second-line therapy. Limitation to 10% body surface area is recommended to minimize systemic absorption. Limited evidence exists for children aged < 12 years.

IN PRACTICE:

“Effective therapy requires a focus on long-term therapeutic interventions to maximize the local gain and retention of pigmentation with a trial period of twice-weekly application. Counseling should include discussion of the chronicity of vitiligo and the need for long-term care,” the authors wrote.

LIMITATIONS:

Some of the recommendations were opinion-based because of the scarcity of evidence-based literature.

SOURCE:

The consensus statement was published on March 13 in JAMA Dermatology.

DISCLOSURES:

This work was supported by grants from Vitiligo Research Foundation and Incyte Pharmaceuticals. The majority of authors disclosed financial relationships outside this work; several reported no disclosures.

A version of this article appeared on Medscape.com.

TOPLINE:

Topical calcineurin inhibitors (TCIs), topical corticosteroids (TCSs), and topical Janus kinase (JAK) inhibitors are supported as mainstay treatments in new expert recommendations on the use of topical therapeutics in children, adolescents, and young adults with vitiligo.

METHODOLOGY:

• While half of all vitiligo cases manifest within the initial two decades of life, no guidelines specifically address the management of vitiligo in children, adolescents, and young adults with vitiligo.
• A protocol was established to formulate consensus recommendations addressing questions related to pediatric vitiligo.
• Overall, 50 articles on topical corticosteroids and/or topical calcineurin inhibitors, five on topical Janus kinase inhibitors, and two each on pseudocatalase and microdermabrasion were included.
• The participants recorded their agreement levels with the formulated statements, using a 5-point Likert scale.

TAKEAWAY:

• TCIs, TCSs, JAK inhibitors, and phototherapy, specifically narrowband ultraviolet (UV)-B light therapy, are mainstay treatments; the combination of UV-B light and topical therapy may enhance initial repigmentation.
• Long-term monitoring for skin cancers is advised, and short outdoor UV exposure is suggested for pediatric patients.
• TCIs, such as tacrolimus and pimecrolimus, are recommended as first-line therapy, particularly on the face, applied twice daily for ≥ 3 months; continued use for 6-12 additional months is recommended if repigmentation is observed.
• The choice of TCS class depends on the site and planned usage duration. Short-term use or overlap with TCIs is recommended because of the risk for atrophy with long-term TCS use. Class 5-6 agents are another option.
• For areas with thin skin, TCSs can be considered second-line treatments.
• Topical JAK inhibitors, specifically topical 1.5% ruxolitinib cream, are recommended for patients aged ≥ 12 years, as first- or second-line therapy. Limitation to 10% body surface area is recommended to minimize systemic absorption. Limited evidence exists for children aged < 12 years.

IN PRACTICE:

“Effective therapy requires a focus on long-term therapeutic interventions to maximize the local gain and retention of pigmentation with a trial period of twice-weekly application. Counseling should include discussion of the chronicity of vitiligo and the need for long-term care,” the authors wrote.

LIMITATIONS:

Some of the recommendations were opinion-based because of the scarcity of evidence-based literature.

SOURCE:

The consensus statement was published on March 13 in JAMA Dermatology.

DISCLOSURES:

This work was supported by grants from Vitiligo Research Foundation and Incyte Pharmaceuticals. The majority of authors disclosed financial relationships outside this work; several reported no disclosures.

A version of this article appeared on Medscape.com.