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Natural history of the respiratory involvement in Anderson–Fabry disease
Author(s) -
Magage S.,
Lubanda J.C.,
Susa Z.,
Bultas J.,
Karetová D.,
Dobrovolný R.,
Hřebíček M.,
Germain D. P.,
Linhart A.
Publication year - 2007
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-007-0616-9
Subject(s) - enzyme replacement therapy , medicine , fabry disease , cohort , spirometry , population , respiratory disease , respiratory system , pediatrics , disease , asthma , lung , environmental health
Summary Background: Anderson–Fabry disease (AFD) is an X‐linked disorder caused by deficient activity of enzyme α‐galactosidase A, resulting in the accumulation of glycosphingolipids within lysosomes. Pulmonary involvement in AFD has previously been documented, but until now has been studied only in a few series of patients without any longitudinal follow‐up. The aim of this study was to compare spirometric changes in AFD patients with a matched control population and to follow the subsequent progression of the disease. Materials and methods: Fifty individuals (27 women, 23 men, mean age 40±14 years) with AFD from 14 families underwent a static spirometric examination under standard conditions. A set of indices was compared with that of the control population. Out of this cohort, 39 individuals not receiving enzyme replacement therapy were longitudinally evaluated (median follow‐up time 24 months). Results: A clinically significant reduction in spirometric parameters, corresponding to mild to severe airway obstruction, was observed in 26% of women and 61% of men. During the serial follow‐up, a significant ( p <0.05) age‐dependent reduction of predicted %FVC and %FEV 1 values was observed in male patients, while the influence of age was not seen in female patients. The %FEF 25–75 values decreased by similar degrees in men and women and in older and younger patients, indicating that progressive bronchial disease affects the small airways first. Conclusions: We have demonstrated a clinically relevant age‐ and sex‐dependent progressive pulmonary involvement in AFD patients. The effects of enzyme replacement therapy on pulmonary involvement remain to be demonstrated.