Clinical characteristics and outcomes in patients with Anti-MDA5 positive interstitial lung disease: A case series from a lung transplant center

Background

Anti-Melanoma Differentiation-5 (MDA5)-positive dermatomyositis (DM) is a rare autoimmune disorder frequently complicated by rapidly progressive interstitial lung disease (RP-ILD), often with poor outcomes. Data from European tertiary care and transplant centers remain limited.

Objective

To describe the clinical presentation, treatment course, and outcomes of five patients with anti-MDA5+DM-associated ILD at a lung transplant center.

Methods

We retrospectively reviewed five patients with confirmed anti-MDA5 seropositivity and interstitial lung involvement between 2023 and 2025. Demographic data, clinical features, lung function, imaging, antibody levels, immunosuppressive treatment, and outcomes were analyzed.

Results

Of the five patients 3 were female and two were male with a median age of 51 years (range 22–69). Clinical severity varied from mild cutaneous and pulmonary disease to fulminant RP-ILD. One patient required extracorporeal membrane oxygenation (ECMO) and eventually underwent lung transplantation. Treatment strategies included high-dose corticosteroids, rituximab, mycophenolate mofetil, tacrolimus, and intravenous immunoglobulins (IVIG). Patients with early initiation of rituximab or IVIG and declining anti-MDA5 antibody titers generally showed pulmonary stabilization. Serial lung function tests correlated with clinical improvement or deterioration. Cutaneous flare-ups persisted in some patients despite pulmonary stability.

Conclusion

This case series underscores the heterogeneous trajectory of anti-MDA5+DM-ILD and highlights the importance of timely diagnosis, aggressive immunosuppressive treatment, and early transplant evaluation in severe cases. Serial monitoring of anti-MDA5 antibody titers and lung function testing may help guide therapeutic decisions and prognostication.