Long-term follow-up of pulmonary function in Fabry disease: A bi-center observational study.
<h4>Introduction</h4>Fabry disease (FD) is a lysosomal storage disorder leading to decreased α-galactosidase A enzyme activity and subsequent abnormal accumulation of glycosphingolipids in various organs. Although histological evidence of lung involvement has been demonstrated, the funct...
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Public Library of Science (PLoS)
2017-01-01
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| author | Daniel P Franzen Albina Nowak Sarah R Haile Dominique Mottet Marco Bonani Olivier Dormond Malcolm Kohler Pierre A Krayenbuehl Frederic Barbey |
| author_facet | Daniel P Franzen Albina Nowak Sarah R Haile Dominique Mottet Marco Bonani Olivier Dormond Malcolm Kohler Pierre A Krayenbuehl Frederic Barbey |
| author_sort | Daniel P Franzen |
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| description | <h4>Introduction</h4>Fabry disease (FD) is a lysosomal storage disorder leading to decreased α-galactosidase A enzyme activity and subsequent abnormal accumulation of glycosphingolipids in various organs. Although histological evidence of lung involvement has been demonstrated, the functional impact of these changes is less clear.<h4>Materials and methods</h4>Adult patients with FD who had yearly pulmonary function tests (PFT) at two centers from 1999 thru 2015 were eligible for this observational study. Primary outcome measures were the change in forced expiratory volume in the first second (FEV1) and FEV1/FVC over time. As secondary outcome we investigated sex, smoking, enzyme replacement therapy (ERT), residual enzyme activity, and Mainz Severity Score Index as possible predictors.<h4>Results</h4>95 patients (41% male, 38.2 ± 14.5 years) were included. The overall prevalence of bronchial obstruction (BO, (FEV1/FVC < 70%)) was 46%, with male sex, age and smoking as significant predictors. FEV1 decreased 29 ml per year (95% CI -36, -22 ml, p<0.0001). FEV1 decline was significantly higher in males (p = 0.009) and in patients on ERT (p = 0.004). Conclusion: Pulmonary involvement seems to be a relevant manifestation of Fabry disease, and routine PFTs should therefore be included in the multidisciplinary follow-up of these patients. |
| format | Article |
| id | doaj-art-44ea72ad6e5345868cf5063de91b44ea |
| institution | Kabale University |
| issn | 1932-6203 |
| language | English |
| publishDate | 2017-01-01 |
| publisher | Public Library of Science (PLoS) |
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| spelling | doaj-art-44ea72ad6e5345868cf5063de91b44ea2025-08-20T03:57:52ZengPublic Library of Science (PLoS)PLoS ONE1932-62032017-01-01127e018043710.1371/journal.pone.0180437Long-term follow-up of pulmonary function in Fabry disease: A bi-center observational study.Daniel P FranzenAlbina NowakSarah R HaileDominique MottetMarco BonaniOlivier DormondMalcolm KohlerPierre A KrayenbuehlFrederic Barbey<h4>Introduction</h4>Fabry disease (FD) is a lysosomal storage disorder leading to decreased α-galactosidase A enzyme activity and subsequent abnormal accumulation of glycosphingolipids in various organs. Although histological evidence of lung involvement has been demonstrated, the functional impact of these changes is less clear.<h4>Materials and methods</h4>Adult patients with FD who had yearly pulmonary function tests (PFT) at two centers from 1999 thru 2015 were eligible for this observational study. Primary outcome measures were the change in forced expiratory volume in the first second (FEV1) and FEV1/FVC over time. As secondary outcome we investigated sex, smoking, enzyme replacement therapy (ERT), residual enzyme activity, and Mainz Severity Score Index as possible predictors.<h4>Results</h4>95 patients (41% male, 38.2 ± 14.5 years) were included. The overall prevalence of bronchial obstruction (BO, (FEV1/FVC < 70%)) was 46%, with male sex, age and smoking as significant predictors. FEV1 decreased 29 ml per year (95% CI -36, -22 ml, p<0.0001). FEV1 decline was significantly higher in males (p = 0.009) and in patients on ERT (p = 0.004). Conclusion: Pulmonary involvement seems to be a relevant manifestation of Fabry disease, and routine PFTs should therefore be included in the multidisciplinary follow-up of these patients.https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0180437&type=printable |
| spellingShingle | Daniel P Franzen Albina Nowak Sarah R Haile Dominique Mottet Marco Bonani Olivier Dormond Malcolm Kohler Pierre A Krayenbuehl Frederic Barbey Long-term follow-up of pulmonary function in Fabry disease: A bi-center observational study. PLoS ONE |
| title | Long-term follow-up of pulmonary function in Fabry disease: A bi-center observational study. |
| title_full | Long-term follow-up of pulmonary function in Fabry disease: A bi-center observational study. |
| title_fullStr | Long-term follow-up of pulmonary function in Fabry disease: A bi-center observational study. |
| title_full_unstemmed | Long-term follow-up of pulmonary function in Fabry disease: A bi-center observational study. |
| title_short | Long-term follow-up of pulmonary function in Fabry disease: A bi-center observational study. |
| title_sort | long term follow up of pulmonary function in fabry disease a bi center observational study |
| url | https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0180437&type=printable |
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