, Volume 30, Issue 5, pp 790-799
Date: 09 Jul 2007

Natural history of the respiratory involvement in Anderson–Fabry disease

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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 %FEV1 values was observed in male patients, while the influence of age was not seen in female patients. The %FEF25–75 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.

Communicating editor: Ed Wraith
Competing interests: None declared
References to electronic databases: Fabry disease: OMIM 301500.