Natural history of the respiratory involvement in Anderson-Fabry disease
Language English Country United States Media print-electronic
Document type Journal Article, Multicenter Study, Research Support, Non-U.S. Gov't
- MeSH
- alpha-Galactosidase genetics metabolism MeSH
- Time Factors MeSH
- Adult MeSH
- Respiration * MeSH
- Fabry Disease enzymology genetics physiopathology MeSH
- Phenotype MeSH
- Genetic Predisposition to Disease MeSH
- Genotype MeSH
- Middle Aged MeSH
- Humans MeSH
- Mutation MeSH
- Follow-Up Studies MeSH
- Airway Obstruction * MeSH
- Prognosis MeSH
- Disease Progression MeSH
- Sex Factors MeSH
- Spirometry MeSH
- Case-Control Studies MeSH
- Severity of Illness Index MeSH
- Forced Expiratory Volume MeSH
- Age Factors MeSH
- Vital Capacity MeSH
- Check Tag
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Multicenter Study MeSH
- Research Support, Non-U.S. Gov't MeSH
- Geographicals
- Czech Republic MeSH
- Names of Substances
- alpha-Galactosidase MeSH
BACKGROUND: Anderson-Fabry disease (AFD) is an X-linked disorder caused by deficient activity of enzyme alpha-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 %FEV1 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.
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