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Profile of patients with Juvenile Dermatomyositis and Anti-MDA5 autoantibodies
Pandiarajan Vignesh1, Pallavi L Nadig2, Suprit Basu2
1Allergy Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India. vigimmc@gmail.com.
Background:
Anti-MDA5 autoantibody-positive dermatomyositis (MDA5-DM) is associated with clinically amyopathic forms and rapidly progressive interstitial lung disease (ILD); however, data in children are limited. In this study, we described our cohort of anti-MDA5-positive juvenile DM (MDA5-JDM) from a tertiary care center in North India.
Methods:
We performed a retrospective analysis of children with MDA5-JDM who were diagnosed and followed up at our center and compared them with our anti-MDA5-negative cohort. We also compared the published literature on MDA5-DM with the juvenile cohort.
Results:
Of 66 children with JDM who underwent testing for MSA, 10(15.5%) had anti-MDA5 positivity. The mean age at onset of clinical manifestations was 8.4 years; male: female ratio was 7:3. Five of nine patients who underwent screening HRCT chest had ILD; one amongst them had a fatal rapidly progressive disease. Children with MDA5-JDM had significantly more arthralgia/arthritis (p = 0.006) and ILD (p = 0.0005) compared to anti-MDA5 negative JDM in our cohort. While MDA5-DM had high rates of Raynaud's phenomenon (p = 0.04) and pulmonary involvement (p = 0.001), juvenile patients had a higher prevalence of constitutional symptoms (p = 0.01), skin manifestations (p = 0.003), arthritis (p = 0.001), and muscle weakness (p = 0.001).
Conclusions:
Arthritis and ILD are commonly seen with MDA5-JDM; however, the frequency of ILD and clinically amyopathic forms are less common compared to adult counterparts.
Impact:
The frequency of anti-MDA5 antibodies in a North Indian cohort of JDM is much lower (15.5%) compared to adult studies in dermatomyositis from Southeast Asia (~25%). Incidence of interstitial lung disease (ILD) and arthritis is high in anti-MDA5 autoantibody-positive JDM. Rates of a rapidly progressive form of ILD and clinically amyopathic dermatomyositis are much lower in children compared to adults with anti-MDA5-associated dermatomyositis.
Insights
Anti-MDA5 autoantibody-positive juvenile dermatomyositis (MDA5-JDM) presents with high rates of arthritis and interstitial lung disease (ILD). However, ILD and clinically amyopathic forms are less frequent in children than adults.
Area of Science:
- Rheumatology
- Pediatrics
- Immunology
Background:
- Anti-MDA5 autoantibody-positive dermatomyositis (MDA5-DM) is linked to amyopathic forms and rapidly progressive interstitial lung disease (ILD).
- Limited data exists on MDA5-DM in pediatric populations.
- This study describes a cohort of anti-MDA5-positive juvenile dermatomyositis (MDA5-JDM) from North India.
Purpose of the Study:
- To characterize the clinical features and outcomes of anti-MDA5 autoantibody-positive juvenile dermatomyositis.
- To compare MDA5-JDM with anti-MDA5-negative JDM.
- To compare juvenile MDA5-DM with adult MDA5-DM from existing literature.
Main Methods:
- Retrospective analysis of children diagnosed with MDA5-JDM at a tertiary care center in North India.
- Comparison of MDA5-JDM patients with an anti-MDA5-negative JDM cohort.
- Literature review comparing published MDA5-DM data with the juvenile cohort.
Main Results:
- 15.5% of children with JDM tested positive for anti-MDA5 antibodies.
- MDA5-JDM patients showed significantly higher rates of arthralgia/arthritis and ILD compared to anti-MDA5-negative JDM.
- While adult MDA5-DM frequently presents with Raynaud's phenomenon and pulmonary involvement, juvenile patients exhibited more constitutional symptoms, skin manifestations, arthritis, and muscle weakness.
Conclusions:
- Arthritis and ILD are common in MDA5-JDM.
- The frequency of ILD and clinically amyopathic forms is lower in MDA5-JDM compared to adult MDA5-DM.
- The incidence of anti-MDA5 antibodies in North Indian JDM patients is lower than reported in Southeast Asian adult dermatomyositis studies.
