Familial pulmonary fibrosis and telomeropathies

Thomas Planté-Bordeneuve (1,2), Xavier Poiré (3), Anne De Leener (4), Antoine Froidure (1,2) Published in the journal : September 2019 Category : Pneumology

Summary :

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.

What is already known about the topic?

Telomeropathies are the first recognized cause of familial pulmonary fibrosis. These conditions are characterized by an early onset and a rapidly progressive lung fibrosis, along with a multi-organ involvement.

What does this article bring up for us?

In this article, we have reviewed the published literature concerning familial pulmonary fibrosis due to germline mutations in telomere biology and provide an overview of the care program put in place at the Cliniques universitaires Saint-Luc for those patients.

Key Words

Interstitial lung disease, telomeres, monogenic disease