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Familial pulmonary fibrosis: a heterogeneous spectrum of presentations
OBJECTIVE: To describe the clinical, functional, and radiological features of index cases of familial pulmonary fibrosis (FPF) in Brazil. METHODS: We evaluated 35 patients with FPF - of whom 18 (51.4%) were women - with a median age of 66.0 years (range, 35.5-89.3 years). All of the patients complet...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Sociedade Brasileira de Pneumologia e Tisiologia
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6715161/ https://www.ncbi.nlm.nih.gov/pubmed/31188976 http://dx.doi.org/10.1590/1806-3713/e20180079 |
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author | Hortense, Ana Beatriz dos Santos, Marcel Koenigkam Wada, Danilo Fabro, Alexandre Todorovic Lima, Mariana Rodrigues, Silvia Calado, Rodrigo Tocantins Baddini-Martinez, José |
author_facet | Hortense, Ana Beatriz dos Santos, Marcel Koenigkam Wada, Danilo Fabro, Alexandre Todorovic Lima, Mariana Rodrigues, Silvia Calado, Rodrigo Tocantins Baddini-Martinez, José |
author_sort | Hortense, Ana Beatriz |
collection | PubMed |
description | OBJECTIVE: To describe the clinical, functional, and radiological features of index cases of familial pulmonary fibrosis (FPF) in Brazil. METHODS: We evaluated 35 patients with FPF - of whom 18 (51.4%) were women - with a median age of 66.0 years (range, 35.5-89.3 years). All of the patients completed a standardized questionnaire, as well as undergoing pulmonary function tests and HRCT of the chest. In 6 cases, lung tissue samples were obtained: from surgical biopsies in 5 cases; and from an autopsy in 1 case. RESULTS: A history of smoking and a history of exposure to birds or mold were reported in 45.7% and 80.0% of the cases, respectively. Cough and marked dyspnea were reported by 62.8% and 48.6% of the patients, respectively. Fine crackles were detected in 91.4% of the patients. In 4 patients, the findings were suspicious for telomere disease. The median FVC and DLCO, as percentages of the predicted values, were 64.9% (range, 48.8-105.7%) and 38.9% (range, 16.0-60.0%), respectively. Nine patients had reduced DLCO despite having normal spirometry results. Regarding HRCT, patterns typical of usual interstitial pneumonia were found in 6 patients (17.1%). In 25 cases (71.5%), the HRCT features were consistent with a diagnosis other than idiopathic pulmonary fibrosis. In 11 cases (31.4%), the radiological patterns were uncharacteristic of interstitial lung disease. Of the six lung tissue samples analyzed, four showed interstitial pneumonia with bronchiolocentric accentuation, and, on the basis of the clinical and radiological data, the corresponding patients were diagnosed with hypersensitivity pneumonitis. CONCLUSIONS: Patients with FPF can present with a wide variety of clinical features. Most HRCT scans of these patients exhibit patterns not typical of usual interstitial pneumonia. The family history of fibrotic lung diseases should be investigated in all patients under suspicion, regardless of their age. |
format | Online Article Text |
id | pubmed-6715161 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | Sociedade Brasileira de Pneumologia e Tisiologia |
record_format | MEDLINE/PubMed |
spelling | pubmed-67151612019-09-18 Familial pulmonary fibrosis: a heterogeneous spectrum of presentations Hortense, Ana Beatriz dos Santos, Marcel Koenigkam Wada, Danilo Fabro, Alexandre Todorovic Lima, Mariana Rodrigues, Silvia Calado, Rodrigo Tocantins Baddini-Martinez, José J Bras Pneumol Original Article OBJECTIVE: To describe the clinical, functional, and radiological features of index cases of familial pulmonary fibrosis (FPF) in Brazil. METHODS: We evaluated 35 patients with FPF - of whom 18 (51.4%) were women - with a median age of 66.0 years (range, 35.5-89.3 years). All of the patients completed a standardized questionnaire, as well as undergoing pulmonary function tests and HRCT of the chest. In 6 cases, lung tissue samples were obtained: from surgical biopsies in 5 cases; and from an autopsy in 1 case. RESULTS: A history of smoking and a history of exposure to birds or mold were reported in 45.7% and 80.0% of the cases, respectively. Cough and marked dyspnea were reported by 62.8% and 48.6% of the patients, respectively. Fine crackles were detected in 91.4% of the patients. In 4 patients, the findings were suspicious for telomere disease. The median FVC and DLCO, as percentages of the predicted values, were 64.9% (range, 48.8-105.7%) and 38.9% (range, 16.0-60.0%), respectively. Nine patients had reduced DLCO despite having normal spirometry results. Regarding HRCT, patterns typical of usual interstitial pneumonia were found in 6 patients (17.1%). In 25 cases (71.5%), the HRCT features were consistent with a diagnosis other than idiopathic pulmonary fibrosis. In 11 cases (31.4%), the radiological patterns were uncharacteristic of interstitial lung disease. Of the six lung tissue samples analyzed, four showed interstitial pneumonia with bronchiolocentric accentuation, and, on the basis of the clinical and radiological data, the corresponding patients were diagnosed with hypersensitivity pneumonitis. CONCLUSIONS: Patients with FPF can present with a wide variety of clinical features. Most HRCT scans of these patients exhibit patterns not typical of usual interstitial pneumonia. The family history of fibrotic lung diseases should be investigated in all patients under suspicion, regardless of their age. Sociedade Brasileira de Pneumologia e Tisiologia 2019 /pmc/articles/PMC6715161/ /pubmed/31188976 http://dx.doi.org/10.1590/1806-3713/e20180079 Text en © 2019 Sociedade Brasileira de Pneumologia e Tisiologia https://creativecommons.org/licenses/by-nc/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License |
spellingShingle | Original Article Hortense, Ana Beatriz dos Santos, Marcel Koenigkam Wada, Danilo Fabro, Alexandre Todorovic Lima, Mariana Rodrigues, Silvia Calado, Rodrigo Tocantins Baddini-Martinez, José Familial pulmonary fibrosis: a heterogeneous spectrum of presentations |
title | Familial pulmonary fibrosis: a heterogeneous spectrum of presentations |
title_full | Familial pulmonary fibrosis: a heterogeneous spectrum of presentations |
title_fullStr | Familial pulmonary fibrosis: a heterogeneous spectrum of presentations |
title_full_unstemmed | Familial pulmonary fibrosis: a heterogeneous spectrum of presentations |
title_short | Familial pulmonary fibrosis: a heterogeneous spectrum of presentations |
title_sort | familial pulmonary fibrosis: a heterogeneous spectrum of presentations |
topic | Original Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6715161/ https://www.ncbi.nlm.nih.gov/pubmed/31188976 http://dx.doi.org/10.1590/1806-3713/e20180079 |
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