Germline mutations in genes related to telomere biology are the first cause of familial pulmonary fibrosis. The progressive shortening of these protective structures successively leads to cell cycle arrest, cellular exhaustion, and the possible development of lung fibrosis. This process may also involve hematopoiesis, the liver, and the skin. The most common pulmonary feature is an early-onset, rapidly progressive pulmonary fibrosis, leading to terminal respiratory insufficiency.
The multisystemic features, early disease onset, and familial component are key hallmarks of the disease. Diagnosis is primarily based on measuring telomere length and identifying a germline mutation. The management of the affected patients is rather complex, because of their rapidly progressive fibrosis, while the effects of antifibrotic drugs are limited, and the patients prone to develop drug-related undesirable events.
The Cliniques universitaires Saint-Luc have set up a specific program, in close collaboration with pneumologists, hematologists, and geneticists, designed to offer optimal care to this patient population.