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Familial pulmonary fibrosis
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Familial pulmonary fibrosis is the name used when fibrosing interstitial lung disease appears in at least two blood relatives. Interstitial means the damage is in the tissue that separates the alveoli, and fibrosing means that tissue fills with scarring.
Nearly all of the inherited genetic variants that predispose to it are passed on in an autosomal dominant pattern, meaning one altered copy is enough to carry the predisposition. The genes involved fall into two groups: those for telomere maintenance, the telomeres being the protective caps on the ends of the chromosomes, and those for surfactant metabolism, surfactant being the substance that keeps the alveoli from collapsing.
People who develop it notice shortness of breath with exertion and a dry cough, and both worsen as the scarring advances. Imaging of the lung shows reticulation, fine lines of scarring, traction bronchiectasis, airways pulled open and widened by that scarring, and honeycombing, clustered holes like the cells of a honeycomb. The elastic lung slowly turns into a stiff, holey sponge.
In brief
Familial pulmonary fibrosis is fibrosing interstitial lung disease occurring in at least two blood relatives.
Nearly all germline variants that predispose to it are inherited in an autosomal dominant pattern; the genes involved include those for telomere maintenance and surfactant metabolism.
It presents with shortness of breath on exertion and a dry cough that worsen as scarring progresses, with reticulation, traction bronchiectasis and honeycombing on imaging.
The elastic lung slowly turns into a stiff, holey sponge.
Sources (1)
- National Center for Biotechnology Information, GeneReviews, University of Washington, SeattlePulmonary Fibrosis Predisposition Overview, GeneReviewsPublished
This page explains the topic in general terms; it does not tell anyone what treatment to follow.
Updated