Diagnostic and prognostic implications of family history of fibrotic interstitial lung diseases
Duminy-Luppi, D. (Hospital Clínic i Provincial de Barcelona)
Alcaide-Aldeano, A. (Hospital Universitari de Bellvitge)
Planas-Cerezales, L. (Hospital Universitari de Bellvitge)
Bermudo, Guadalupe (Hospital Universitari de Bellvitge)
Vicens-Zygmunt, V. (Hospital Universitari de Bellvitge)
Luburich, P. (Hospital Universitari de Bellvitge)
Del Río-Carrero, B. (Hospital Universitari de Bellvitge)
Llatjós, R. (Hospital Universitari de Bellvitge)
Pijuan, L. (Hospital Universitari de Bellvitge)
Escobar, I. (Hospital Universitari de Bellvitge)
Rivas, F. (Hospital Universitari de Bellvitge)
Montes-Worboys, A. (Hospital Universitari de Bellvitge)
Gutiérrez-Rodríguez, Y. (Hospital Universitari de Bellvitge)
Rodríguez-Plaza, D. (Hospital Universitari de Bellvitge)
Padró-Miquel, A. (Hospital Universitari de Bellvitge)
Esteve-Garcia, A. (Hospital Universitari de Bellvitge)
Fernández-Varas, B. (Telomeropathies Lab. CSIC-IIB Alberto Sols)
Flores, C. (Universidad Fernando de Pessoa Canarias)
Fuentes, M. (Institut d'Investigació Biomèdica de Bellvitge)
Dorca, J. (Hospital Universitari de Bellvitge)
Santos, S. (Hospital Universitari de Bellvitge)
Perona, R. (Instituto de Salud Carlos III)
Günther, A. (Justus Liebig University)
Shull, J. (Institut d'Investigació Biomèdica de Bellvitge)
Molina-Molina, M. (Hospital Universitari de Bellvitge)
Universitat Autònoma de Barcelona

Fecha:	2024
Resumen:	Background: Patients with familial fibrotic interstitial lung disease (ILD) experience worse survival than patients with sporadic disease. Current guidelines do not consider family aggregation or genetic information in the diagnostic algorithm for idiopathic pulmonary fibrosis or other fibrotic ILDs. Better characterizing familial cases could help in diagnostic and treatment decision-making. Methods: This retrospective cohort study included 222 patients with fibrotic ILD (104 familial and 118 sporadic) from Bellvitge University Hospital. Clinical, radiological, pulmonary functional tests (PFT), and histological evaluations were performed at diagnosis and follow-up. Telomere shortening and disease-associated variants (DAVs) in telomerase-related genes were analysed in familial patients and sporadic patients with telomeric clinical signs. Primary outcomes were the presence of a UIP histological pattern and disease progression. Results: Patients with idiopathic pulmonary fibrosis (IPF) (52%), fibrotic hypersensitivity pneumonitis (23%), and other fibrotic ILDs (25%) were included. 42% of patients underwent lung biopsy. Patients with family aggregation were younger and less frequently associated comorbidities, male sex, and smoking history. However, usual interstitial pneumonia (UIP) was more frequent on pathology (p = 0. 005; OR 3. 37), especially in patients with indeterminate or non-UIP radiological patterns. Despite similar PFT results at diagnosis, familial patients were more likely to present with progressive disease (p = 0. 001; OR 3. 75). Carrying a DAV increased the risk of fibrotic progression in familial and sporadic patients (p = 0. 029, OR 5. 01). Discussion: Familial patients diagnosed with different fibrotic ILDs were more likely to exhibit a histological UIP pattern and disease progression than sporadic patients, independent of radiological findings and pulmonary function at diagnosis. Conclusion: Considering the diagnostic likelihood of the histological UIP pattern and disease outcome, the presence of family aggregation would be useful in the decision making of multidisciplinary committees.
Ayudas:	Instituto de Salud Carlos III AC19/00006
Derechos:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, i la comunicació pública de l'obra, sempre que no sigui amb finalitats comercials, i sempre que es reconegui l'autoria de l'obra original. No es permet la creació d'obres derivades.
Lengua:	Anglès
Documento:	Article ; recerca ; Versió publicada
Materia:	Biopsy ; Disease Progression ; Family ; Fibrosis ; Idiopathic pulmonary fibrosis ; Lung diseases, interstitial ; Prognosis ; Retrospective studies ; Telomere Shortening
Publicado en:	Respiratory Research, Vol. 25 Núm. 1 (december 2024) , p. 433, ISSN 1465-993X

DOI: 10.1186/s12931-024-03063-y
PMID: 39695595

10 p, 1.3 MB

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