CTICasesFamilial Pulmonary Fibrosis with Telomerase Mutation
Imaging findings
CT in a patient with a family history of lung fibrosis shows peripheral reticulation and traction bronchiectasis. Telomere length testing fell below the 1st percentile, confirming a telomerase mutation (dyskeratosis congenita spectrum) coexisting with hepatopulmonary syndrome.
Key takeaways
Telomerase mutations (e.g., TERT, TERC) are the most common genetic cause of familial pulmonary fibrosis. They present with an atypical UIP/NSIP pattern of lung disease, often coexisting with cryptogenic cirrhosis, bone marrow failure, and hepatopulmonary syndrome.
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