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REVIEW article

Front. Med.

Sec. Pulmonary Medicine

This article is part of the Research TopicAdvancing the Early Diagnosis of Interstitial Lung Diseases – Beyond ILAsView all 4 articles

Familial interstitial lung disease: Emerging insights into screening and genetic risk

Provisionally accepted
Ana Paola HernándezAna Paola Hernández1Lurdes Planas-CerezalesLurdes Planas-Cerezales2,3Maria Molina-MolinaMaria Molina-Molina4,5,6,7Raphael BorieRaphael Borie10,8,9Wim A. WuytsWim A. Wuyts11Meritxell JodarMeritxell Jodar12,13,6Jacobo SellaresJacobo Sellares1,13,6,7*Fernanda Hernandez-GonzalezFernanda Hernandez-Gonzalez13,2,6
  • 1Department of Respiratory Medicine, Respiratory Institute, Hospital Clinic of Barcelona, Barcelona, Spain
  • 2Department of Respiratory Medicine, Hospital Clinic of Barcelona, Barcelona, Spain
  • 3Hospital de Viladecans, Viladecans, Spain
  • 4ILD Unit, Respiratory Department, Hospital Universitari de Bellvitge, L'Hospitalet de Llobregat, Spain
  • 5Institut d'Investigacio Biomedica de Bellvitge, Barcelona, Spain
  • 6Universitat de Barcelona, Barcelona, Spain
  • 7Centro de Investigacion Biomedica en Red Enfermedades Respiratorias, Madrid, Spain
  • 8Universite Paris Cite, Paris, France
  • 9Service de Pneumologie Allergologie et Transplantation, Hopital Bichat - Claude-Bernard, Paris, France
  • 10Centre Constitutif du Centre de Référence des Maladies Pulmonaires Rares, Paris, France
  • 11Unit for Interstitial Lung Diseases, Department of Respiratory Medicine, UZ Leuven, Leuven, Belgium
  • 12Department of Biochemistry and Molecular Genetics, CDB, Hospital Clinic de Barcelona, Barcelona, Spain
  • 13Instituto de Investigaciones Biomédicas August Pi i Sunyer, Barcelona, Spain

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Familial pulmonary fibrosis (FPF) is increasingly recognized as a distinct entity within the spectrum of interstitial lung diseases (ILDs), characterized by a significant genetic contribution involving genetic variation telomere-related genes, surfactant protein genes, and the MUC5B promoter polymorphism. These variants influence disease susceptibility, clinical course, and prognosis. Moreover, high-resolution computed tomography (HRCT) has revealed interstitial lung abnormalities (ILAs) as early manifestations in at-risk relatives, particularly among individuals with pathogenic variants, highlighting its central role in early detection. Despite substantial progress, significant challenges persist, particularly regarding the unidentified genetic variants in a considerable proportion of cases and the psychosocial impact associated with familial screening. Some studies suggest that HRCT-based surveillance from age 50 and genetic testing in affected individuals. Looking ahead, integrative approaches combining genetic, radiologic, functional, and biomarker data may enhance risk stratification and enable early intervention, moving toward a paradigm where FPF becomes a preventable condition rather than a relentlessly treatable progressive disease. This review addresses FPF, integrating advances in genetics, radiology, and clinical management. It highlights key developments in telomere biology, surfactant genes, and MUC5B, and discusses evidence-based strategies for screening and prevention, providing relevant insights for clinicians and researchers in ILD.

Keywords: familial pulmonary fibrosis, genetic screening, Idiopathic Pulmonary Fibrosis, Interstitial lung abnormalities, Interstitial Lung Disease

Received: 15 Nov 2025; Accepted: 28 Jan 2026.

Copyright: © 2026 Hernández, Planas-Cerezales, Molina-Molina, Borie, Wuyts, Jodar, Sellares and Hernandez-Gonzalez. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

* Correspondence: Jacobo Sellares

Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.

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