J Korean Soc Hypertens.  2010 Dec;16(4):38-43.

Prevalence of Fabry Disease in Korean Female Patients with Left Ventricular Hypertrophy

• Yu TK
• Kim WS
• Kim J
• Kim M
• Woo JS
• Ha SJ
• Kim SY
• Kim JB
• Hong SP
• Kim GH
• Lee BH
• Yoo HW
• Bae JH
• Kim KS

Abstract

BACKGROUND
The prevalence of Fabry disease was known to be 3-12% among the patients with left ventricular hypertrophy (LVH). Although Fabry disease is considered as X-linked recessive disorder, more and more affected women are reported. However, its prevalence in female patients who have LVH on echocardiogram remains unclear. So, we investigate the prevalence of Fabry disease in Korean female patients with LVH.
METHODS
Forty four consecutive women (mean age, 59.5+/-17.5 years) who received an echocardiographic diagnosis of LVH (maximum left ventricular wall thickness > or = 13 mm) were screened for the alpha-galactosidase A activity with the use of dried blood spots sample (DBSS) test. In patients with a positive screening test, GLA gene mutation test was performed to confirm the diagnosis of Fabry disease.
RESULTS
None of them had a family history of Fabry disease. Among the 13 patients who have had low alpha-galactosidase A activity in screening test, 1 woman was confirmed as a Fabry disease by GLA mutation test. Additionally, total six family members were diagnosed as a Fabry disease via family study.
CONCLUSION
Among the Korean female patients with LVH, the prevalence of Fabry disease was 2.27% in our study. Measuring the alpha-galactosidase A activity with the use of DBSS test in female patients with LVH may be useful as a screening test to identifying Fabry disease carriers for proper enzyme replacement therapy.

Keyword

Fabry Disease; Alpha-galactosidase; Left Ventricular Hypertrophy

MeSH Terms

alpha-Galactosidase
Enzyme Replacement Therapy
Fabry Disease
Female
Humans
Hypertrophy, Left Ventricular
Mass Screening
Prevalence
alpha-Galactosidase