Related Experiment Video
Updated: Jun 20, 2025
Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease
Published on: June 16, 2020
Asymptomatic and slowly progressive anti-MDA5 ILD: A report of three cases deviating from a notoriously rapidly
Rose M Puthumana1, Abigail L Koch2, Christopher Schettino3
1Department of Medicine, University of Miami Miller School of Medicine, Miami, FL, USA.
Background:
Anti-melanoma differentiation-associated gene 5-positive (anti-MDA5) dermatomyositis (DM) is a rare autoimmune disease associated with rapidly-progressive interstitial lung disease (RP-ILD.) The reported morbidity and 6-month mortality remains high from 33 to 66 % with RP-ILD most often developing within three months of diagnosis. Most cases require aggressive immunosuppression with combination therapy. Asymptomatic or slowly progressive cases of anti-MDA5 ILD are not well described in the literature. We report three cases of Latino patients with asymptomatic or slowly progressive anti-MDA5 ILD.Case descriptions.
Case 1:
A 54-year-old woman from Honduras with known diagnosis of anti-MDA5 dermatomyositis presented for ILD. She denied respiratory symptoms. Computed tomography (CT) chest showed multifocal patchy areas of scattered groundglass opacities throughout all lobes of the lungs, predominately in a subpleural distribution within the lower lobes. Pulmonary function testing (PFTs) showed mild-to-moderate restriction. She was treated with mycophenolate mofetil monotherapy for her skin manifestations. At 18 months follow-up, she denied respiratory symptoms, and PFTs were normal.
Case 2:
An 80-year-old man from Cuba was seen in pulmonary clinic to establish care. He was diagnosed with pulmonary fibrosis 11 years earlier with positive anti-MDA5. He denied respiratory symptoms. PFTs showed moderate obstruction and mild to moderate restriction. CT chest showed reduced lung volumes and findings compatible with usual interstitial pneumonia. He was started on nintedanib. Fifteen months following the initial visit, his PFTs remained stable. Follow-up CT chest showed stable pulmonary fibrosis. At all subsequent visits, he reported mild to moderate, slowly progressive dyspnea on exertion and was maintained on nintedanib. Thirteen years after his initial ILD diagnosis, he was diagnosed with pancreatic adenocarcinoma.
Case 3:
A 70-year-old woman from Peru presented to pulmonary clinic with cough for two months. She also reported pain in several metacarpophalangeal joints. She denied dyspnea. Rheumatologic serologies revealed positive anti-MDA5. PFTs were normal. Her cough was treated with cough suppressants and resolved. At a subsequent visit 8 months after presentation, she denied respiratory symptoms, and her joint pain remained mild. Given her lack of respiratory symptoms and normal PFTs, she was not initiated on ILD-specific treatment.
Conclusions:
While anti-MDA5 ILD is certainly associated with RP-ILD, clinicians should maintain awareness that there may be cases of asymptomatic or slowly progressive ILD as well.
Insights
Anti-melanoma differentiation-associated gene 5 (MDA5) dermatomyositis can present with slow or no lung disease symptoms. This study highlights three Latino patients with asymptomatic or slowly progressive anti-MDA5 interstitial lung disease (ILD).
Area of Science:
- Rheumatology and Immunology
- Pulmonology
- Dermatology
Background:
- Anti-melanoma differentiation-associated gene 5-positive (anti-MDA5) dermatomyositis (DM) is a rare autoimmune condition.
- It is strongly associated with rapidly progressive interstitial lung disease (RP-ILD), carrying high morbidity and mortality rates.
- The typical presentation involves aggressive immunosuppression, but asymptomatic or slowly progressive cases are less understood.
Observation:
- Case 1: A 54-year-old woman with anti-MDA5 DM presented with asymptomatic interstitial lung disease (ILD) showing mild-to-moderate restriction on pulmonary function tests (PFTs). She improved with mycophenolate mofetil monotherapy.
- Case 2: An 80-year-old man with a 11-year history of anti-MDA5 positive pulmonary fibrosis presented with mild, slowly progressive dyspnea. He remained stable on nintedanib.
- Case 3: A 70-year-old woman with anti-MDA5 positive rheumatologic serologies presented with a cough and mild joint pain but no dyspnea. Her PFTs were normal, and she did not require ILD-specific treatment.
Findings:
- The three cases demonstrate that anti-MDA5 associated ILD can manifest asymptomatically or with slow progression.
- These patients, of Latino ethnicity, did not fit the typical RP-ILD profile, suggesting a broader clinical spectrum.
- Management varied from monotherapy to targeted agents or conservative treatment based on symptom and PFTs.
Implications:
- Clinicians should consider the possibility of indolent anti-MDA5 ILD, even in the absence of rapid respiratory decline.
- This broadens the understanding of anti-MDA5 DM's pulmonary manifestations beyond RP-ILD.
- Further research is needed to identify predictors and optimal management strategies for these less aggressive forms of anti-MDA5 ILD.
More Related Videos
Related Concept Videos
01:20Myasthenia Gravis: Overview and Treatment
These antibodies interfere with the function of the nicotinic receptors in three ways: by binding to the receptor and disrupting acetylcholine binding; by causing cross-linking of receptors which...
01:28Pulmonary Tuberculosis II
Here is a detailed explanation of its pathophysiology:
Transmission: The process begins when a person inhales droplet nuclei containing M. tuberculosis. These are typically released into the air when an individual with pulmonary or...
01:15Myasthenia Gravis: Diagnostic Tests
The edrophonium test is a diagnostic tool for myasthenia gravis. It involves...
01:20Chronic Obstructive Pulmonary Disease-II: Pathophysiology
Chronic Inflammation
01:30Pleural Disorders: Types and Brief Description
01:20COPD: Pathogenesis and Clinical Features
The primary cause for the onset of COPD is cigarette smoking and exposure to air pollution. These hazardous factors initiate a chain reaction within the lungs, resulting in chronic inflammation, damage to the airways, and a...