Diagnostic and prognostic implications of family history of fibrotic interstitial lung diseases.

ABSTRACT:

Background

Patients with familial fibrotic interstitial lung disease (ILD) experience worse survival than patients with sporadic disease. Current guidelines do not consider family aggregation or genetic information in the diagnostic algorithm for idiopathic pulmonary fibrosis or other fibrotic ILDs. Better characterizing familial cases could help in diagnostic and treatment decision-making.

Methods

This retrospective cohort study included 222 patients with fibrotic ILD (104 familial and 118 sporadic) from Bellvitge University Hospital. Clinical, radiological, pulmonary functional tests (PFT), and histological evaluations were performed at diagnosis and follow-up. Telomere shortening and disease-associated variants (DAVs) in telomerase-related genes were analysed in familial

SUBMITTER: Duminy-Luppi D 

PROVIDER: S-EPMC11656921 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature