Abstract
Summary: Familial pulmonary fibrosis is defined as the involvement of at least two blood-related individuals in the interstitial lung process. Pathogenic variants of genes responsible for telomere maintenance, genes for surfactant proteins, or lung involvement are often responsible for the disease as part of a more complex genetic hereditary disease of the Hermann-Pudlak syndrome or congenital dyskeratosis.
Patients with familial pulmonary fibrosis undoubtedly deserve our attention, because the development of pulmonary involvement over time, especially in carriers of mutations in the genes responsible for maintaining telomere length, is progressive. The approach to patients with these diseases is summarized, among other things, by the recommended procedure of the Czech Pneumological and Phthisiological Society of the Czech Medical Association JEP, devoted to this issue.
In order to specify the genetic basis of these diseases, it is necessary to work closely with a geneticist, who, in cooperation with a pulmonologist, should indicate the examination to the necessary extent, or answer questions from the field of genetic counseling.