European Respiratory Society statement on familial pulmonary fibrosis.
Raphael BorieCaroline KannengiesserKaterina AntoniouFrancesco BonellaBruno CrestaniAurélie FabreAntoine FroidureLiam GalvinMatthias GrieseJan C GruttersMaria Molina-MolinaVenerino PolettiAntje PrasseElisabetta RenzoniJasper van der SmagtColine H M van MoorselPublished in: The European respiratory journal (2023)
Genetic predisposition to pulmonary fibrosis has been confirmed by the discovery of several gene mutations that cause pulmonary fibrosis. Although genetic sequencing of familial pulmonary fibrosis (FPF) cases is embedded in routine clinical practice in several countries, many centres have yet to incorporate genetic sequencing within interstitial lung disease (ILD) services and proper international consensus has not yet been established. An international and multidisciplinary expert Task Force (pulmonologists, geneticists, paediatrician, pathologist, genetic counsellor, patient representative and librarian) reviewed the literature between 1945 and 2022, and reached consensus for all of the following questions: 1) Which patients may benefit from genetic sequencing and clinical counselling? 2) What is known of the natural history of FPF? 3) Which genes are usually tested? 4) What is the evidence for telomere length measurement? 5) What is the role of common genetic variants (polymorphisms) in the diagnostic workup? 6) What are the optimal treatment options for FPF? 7) Which family members are eligible for genetic sequencing? 8) Which clinical screening and follow-up parameters may be considered in family members? Through a robust review of the literature, the Task Force offers a statement on genetic sequencing, clinical management and screening of patients with FPF and their relatives. This proposal may serve as a basis for a prospective evaluation and future international recommendations.
Keyphrases
- pulmonary fibrosis
- clinical practice
- genome wide
- interstitial lung disease
- single cell
- copy number
- systemic sclerosis
- healthcare
- rheumatoid arthritis
- primary care
- ejection fraction
- idiopathic pulmonary fibrosis
- early onset
- chronic kidney disease
- gene expression
- case report
- hepatitis c virus
- human immunodeficiency virus
- hiv testing
- patient reported