Prevalence and cardiovascular features of Japanese hemodialysis patients with Fabry disease

Am J Nephrol. 2009;30(6):527-35. doi: 10.1159/000250968. Epub 2009 Oct 16.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Asian People / statistics & numerical data*
  • Cardiovascular Diseases / diagnosis
  • Cardiovascular Diseases / ethnology*
  • Cardiovascular Diseases / genetics
  • Echocardiography, Doppler
  • Enzyme Activation / physiology
  • Fabry Disease / ethnology*
  • Fabry Disease / genetics
  • Female
  • Heart Diseases / diagnosis
  • Heart Diseases / ethnology
  • Heart Diseases / genetics
  • Humans
  • Hypertension / diagnosis
  • Hypertension / ethnology
  • Hypertension / genetics
  • Japan / epidemiology
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Pedigree
  • Prevalence
  • Renal Dialysis / statistics & numerical data*
  • Risk Factors
  • Stroke / diagnosis
  • Stroke / ethnology
  • Stroke / genetics
  • Young Adult
  • alpha-Galactosidase / genetics
  • alpha-Galactosidase / metabolism


  • alpha-Galactosidase