Genetics in Idiopathic Pulmonary Fibrosis: A Clinical Perspective
Spyros A. Papiris,
Caroline Kannengiesser,
Raphael Borie,
Lykourgos Kolilekas,
Maria Kallieri,
Vasiliki Apollonatou,
Ibrahima Ba,
Nadia Nathan,
Andrew Bush,
Matthias Griese,
Philippe Dieude,
Bruno Crestani,
Effrosyni D. Manali
Affiliations
Spyros A. Papiris
2nd Pulmonary Medicine Department, General University Hospital “Attikon”, Medical School, National and Kapodistrian University of Athens, 12462 Athens, Greece
Caroline Kannengiesser
Département de Génétique, APHP Hôpital Bichat, Université de Paris, 75018 Paris, France
Raphael Borie
Service de Pneumologie A, INSERM UMR_1152, Centre de Référence des Maladies Pulmonaires Rares, FHU APOLLO, APHP Hôpital Bichat, Sorbonne Université, 75018 Paris, France
2nd Pulmonary Medicine Department, General University Hospital “Attikon”, Medical School, National and Kapodistrian University of Athens, 12462 Athens, Greece
Vasiliki Apollonatou
2nd Pulmonary Medicine Department, General University Hospital “Attikon”, Medical School, National and Kapodistrian University of Athens, 12462 Athens, Greece
Ibrahima Ba
Département de Génétique, APHP Hôpital Bichat, Université de Paris, 75018 Paris, France
Nadia Nathan
Peditric Pulmonology Department and Reference Centre for Rare Lung Diseases RespiRare, INSERM UMR_S933 Laboratory of Childhood Genetic Diseases, Armand Trousseau Hospital, Sorbonne University and APHP, 75012 Paris, France
Andrew Bush
Paediatrics and Paediatric Respirology, Imperial College, Imperial Centre for Paediatrics and Child Health, Royal Brompton Harefield NHS Foundation Trust, London SW3 6NP, UK
Matthias Griese
Department of Pediatric Pneumology, Dr von Hauner Children’s Hospital, Ludwig-Maximilians-University, German Center for Lung Research, 80337 Munich, Germany
Philippe Dieude
Department of Rheumatology, INSERM U1152, APHP Hôpital Bichat-Claude Bernard, Université de Paris, 75018 Paris, France
Bruno Crestani
Service de Pneumologie A, INSERM UMR_1152, Centre de Référence des Maladies Pulmonaires Rares, FHU APOLLO, APHP Hôpital Bichat, Sorbonne Université, 75018 Paris, France
Effrosyni D. Manali
2nd Pulmonary Medicine Department, General University Hospital “Attikon”, Medical School, National and Kapodistrian University of Athens, 12462 Athens, Greece
Background: Unraveling the genetic background in a significant proportion of patients with both sporadic and familial IPF provided new insights into the pathogenic pathways of pulmonary fibrosis. Aim: The aim of the present study is to overview the clinical significance of genetics in IPF. Perspective: It is fascinating to realize the so-far underestimated but dynamically increasing impact that genetics has on aspects related to the pathophysiology, accurate and early diagnosis, and treatment and prevention of this devastating disease. Genetics in IPF have contributed as no other in unchaining the disease from the dogma of a “a sporadic entity of the elderly, limited to the lungs” and allowed all scientists, but mostly clinicians, all over the world to consider its many aspects and “faces” in all age groups, including its co-existence with several extra pulmonary conditions from cutaneous albinism to bone-marrow and liver failure. Conclusion: By providing additional evidence for unsuspected characteristics such as immunodeficiency, impaired mucus, and surfactant and telomere maintenance that very often co-exist through the interaction of common and rare genetic variants in the same patient, genetics have created a generous and pluralistic yet unifying platform that could lead to the understanding of the injurious and pro-fibrotic effects of many seemingly unrelated extrinsic and intrinsic offending factors. The same platform constantly instructs us about our limitations as well as about the heritability, the knowledge and the wisdom that is still missing.
