CTICasesCOPA Syndrome (Genetic Interstitial Lung Disease with Recurrent Pulmonary Hemorrhage and Arthritis)
Imaging findings
Early CT (age 15) shows upper lobe predominant scarring and architectural distortion with volume loss and elevated hila. Current imaging shows a more bizarre fibrotic pattern with subpleural honeycombing and reticulation, largely sparing the bases, consistent with a diffuse fibrosing interstitial lung disease. The patient has a history of recurrent pulmonary hemorrhage at ages 2 and 7.
Key takeaways
COPA syndrome is a rare genetic disorder caused by a COPA gene mutation, characterized by a triad of interstitial lung disease, recurrent pulmonary hemorrhage, and joint disease (arthritis). It represents another familial cause of interstitial lung disease, often presenting in childhood or early adulthood. Unexplained primary pulmonary hemosiderosis in children might be a manifestation of this entity, which involves immune dysregulation and autoimmunity.
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