Vnitr Lek 2020, 66(6):365-369 | DOI: 10.36290/vnl.2020.103

Familial pulmonary fibrosis - guidelines for diagnostics and treatment

Martina Šterclová^1,2, Michael Doubek^3,4, Martina Doubková⁵

¹ Pneumologická klinika 2. LF a FN Motol, Praha

² Interní oddělení Nemocnice Na Homolce, Praha

³ Interní hematologická a onkologická klinika FN Brno a LF Brno

⁴ Středoevropský technologický institut, Masarykova univerzita, Brno

⁵ Klinika nemocí plicních a tuberkulózy FN Brno a LF Masarykovy univerzity Brno

Familial pulmonary fibrosis (FPF) is defined as interstitial lung involvement in at least two members of the same biological family. Pathogenesis of FPF involves background of genetic risk factors further modified by environmental exposures and aging. Manifestation of FPF mirrors manifestation of interstitial lung diseases generally. Patients may present also with involvement of other organs, as seen usually in those affected by complex syndromes or telomeropaties. Described mutations concern telomeres homeostasis genes (TERT, TERC, RTEL1, PARN, DKC1, TINF, NAF1), surfactant genes (SFTPC, ABCA3, NFKX2-1) or genes associated with complex syndromes (COPA, TMEM173, HPS-1-8, NF1, FAM111B, NDUFAF6, GATA 2). Genetic tests are indicated by specialist in clinical genetics, optimaly after consultation with respiratory specialist involved in interstitial lung diseases. Treatment of FPF is currently unknown. In patients with multiorgan involvement growing number of organs may be affected in time and sometimes dysfunction of mostly severe affected organ may manifest before interstitial lung involvement.

Keywords: familial pulmonary fibrosis, genetics, telomer, surfaktant, treatment.

Published: October 8, 2020  Show citation