The Role of Anti-MDA5 Antibodies in Rapidly Progressive Interstitial Lung Disease: A Case Report and Literature Review.

Introduction: Anti-melanoma Differentiation-associated Gene 5 (aMDA5) antibody-associated Rapidly Progressive Interstitial Lung Disease (RP-ILD) is a rare and potentially fatal condition.

Case presentation: This case report describes a 78-year-old male who presented with a 10-day history of fever, cough, and asthenia. Despite initial treatment for suspected atypical pneumonia, the clinical condition rapidly deteriorated, necessitating intensive care and mechanical ventilation. High-resolution CT scans revealed a progressive interstitial lung disease with pneumomediastinum. Autoimmunity blood tests revealed high-titer anti-MDA5 antibodies bringing to a diagnosis of anti-MDA5 RP-ILD. Despite aggressive immunosuppressive therapy, the patient's condition continued to worsen, resulting in death. Our case underlines the importance of early recognition and diagnosis of anti-MDA5 RP-ILD, as it can present without typical dermatomyositis skin manifestations. The report also includes a comprehensive literature review covering the pathogenesis, clinical manifestations, diagnosis, and treatment options for anti-MDA5-associated disease.

Conclusion: This case underscores the need for increased awareness of this condition among clinicians to improve early diagnosis and treatment outcomes.