Prevalence and cardiovascular features of Japanese hemodialysis patients with Fabry disease.

BACKGROUND

Fabry disease (FD) is a rare disease and one of the causes of progressive renal dysfunction. It results from an X-linked deficiency of alpha-galactosidase A activity. It has been reported that its prevalence is much higher in hemodialysis patients than in the general population. However, its prevalence in Japanese hemodialysis patients and cardiovascular manifestations remain unclear.

METHODS

We screened the alpha-galactosidase A activity of 1,024 Japanese hemodialysis patients using a dried blood spot test. Patients with a low alpha-galactosidase A activity were assessed clinically, and a genetic study of the alpha-galactosidase A gene was performed for these patients. Furthermore, patients with FD underwent detailed cardiovascular examination.

RESULTS

Forty-six patients had low alpha-galactosidase A activity, and 1 man and 2 women had alpha-galactosidase A mutations (0.29%). All of these patients had a previously identified mutation (E66Q). The result of detailed cardiovascular examination showed that 2 patients had significantly impaired coronary flow reserve, reduced myocardial contraction and relaxation tissue Doppler velocities, and left ventricular hypertrophy.

CONCLUSIONS

Measurement of the alpha-galactosidase A activity and the results of a genetic analysis indicated that the prevalence of FD in our hemodialysis patients was 0.29% (0.16% in men and 0.5% in women). Furthermore, comprehensive examination detected cardiovascular abnormalities in Japanese hemodialysis patients with FD.