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KMID : 0648320100160040038
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Journal of The Korean Society of Hypertension
2010 Volume.16 No. 4 p.38 ~ p.43
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Prevalence of Fabry Disease in Korean Female Patients with Left Ventricular Hypertrophy
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Yu Tae-Kyung
Kim Woo-Shik
Kim Jung-Wook
Kim Min-Kyung
Woo Jong-Shin
Ha Sang-Jin
Kim Seok-Yeon
Kim Jin-Bae
Hong Soon-Pyo
Kim Gu-Hwan
Lee Beom-Hee
Yoo Han-Wook
Bae Jong-Hoa
Kim Kwon-Sam
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Abstract
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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 ≥ 13 mm) were screened for the -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 -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 -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.
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KEYWORD
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Fabry Disease, Alpha-galactosidase, Left Ventricular Hypertrophy
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