Familial pulmonary fibrosis: a world without frontiers

摘要

There has been an incredible progress in our understanding of fibrotic lung disorders in the past 20 years. That has led to the development of well-accepted diagnostic criteria for idiopathic pulmonary fibrosis (IPF),1,2 as well as to the development of two drugs, pirfenidone and nintedanib,3,4 which are able to slow the progression of the disease and may improve survival. This has been shown in different clinical registries from Australia,5 Europe,6,7 and the United States,8 with an acceptable tolerance profile. In the same period, rare gene mutations associated with familial pulmonary fibrosis (FPF), involving surfactant-related genes (SFTPA1, SFTPA2, SFTPC, ABCA3, etc.) and telomere-related genes (TRGs), such as TERT, TERC, RTEL1, PARN, NAF1, DKC1, and TINF2, have been identified. It has also been shown that the presence of a common gene polymorphism involving the MUC5B promoter is a major risk factor for FPF and sporadic IPF.9 Those seminal studies, along with genome-wide association studies, allowed the genetic basis of IPF to be established.10,11 More recent studies showed that this genetic basis was shared by non-idiopathic fibrotic lung disorders, such as chronic hypersensitivity pneumonitis,12 interstitial pneumonia with autoimmune features,13 and rheumatoid arthritis-associated interstitial lung disease (ILD).14,15 In the present issue of the JBP, two groups of authors report their experience in the use of antifibrotic agents in IPF and in the characterization of FPF in Brazil.16,17