Long-term follow-up of pulmonary function in Fabry disease: A bi-center observational study.

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Version: Final published version
Serval ID
serval:BIB_3ECF24D65145
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Long-term follow-up of pulmonary function in Fabry disease: A bi-center observational study.
Journal
PloS one
Author(s)
Franzen D.P., Nowak A., Haile S.R., Mottet D., Bonani M., Dormond O., Kohler M., Krayenbuehl P.A., Barbey F.
ISSN
1932-6203 (Electronic)
ISSN-L
1932-6203
Publication state
Published
Issued date
2017
Peer-reviewed
Oui
Volume
12
Number
7
Pages
e0180437
Language
english
Notes
Publication types: Journal Article
Publication Status: epublish
Abstract
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.
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.
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.

Pubmed
Web of science
Open Access
Yes
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28/08/2017 9:48
Last modification date
20/08/2019 13:35
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