Idiopathic pulmonary fibrosis (IPF) appears in adulthood and leads to high mortality rates, with an unpredictable clinical progression. In recent years, a number of studies have addressed the role of specific candidate genes in its pathogeny and prognosis. Mutations in genes related to surfactant metabolism, as well as in genes related to telomere maintenance and protection, have been described to influence survival, lung function decline, and response to pharmacological treatment.
Familial pulmonary fibrosis (FPF), with an autosomal dominant inheritance pattern, shares radiological and anatomopathologic features with IPF (showing histological patterns typical of interstitial lung disease), and it accounts for at least 4% of cases diagnosed with IPF. Its onset is earlier (young adults). Several genes-mainly those related to the telomerase complex and to surfactant metabolism-have been identified as causative of this disease.
Pulmonary fibrosis can also appear as a complication linked to other multisystem genetic diseases included in the telomeropathies group, such as dyskeratosis congenita.
The application of genetic testing to the study of interstitial lung disease has paved the way to understand the common pathogenic mechanisms underlying this heterogeneous group of diseases, as well as to study new therapeutic targets and to use genetic profiles as markers for prognosis and response to treatment.