Prevalence of Fabry Disease in Korean Men with Left Ventricular Hypertrophy

Journal of Korean Medical Science
Woo-Shik KimChuwa Tei

Abstract

Fabry disease is an X-linked recessive disorder caused by deficiency of the lysosomal enzyme α-galactosidase A (α-Gal A). Previous studies identified many cases of Fabry disease among men with left ventricular hypertrophy (LVH). The purpose of this study was to define the frequency of Fabry disease among Korean men with LVH. In this national prospective multicenter study, we screened Fabry disease in men with LVH on echocardiography. The criterion for LVH diagnosis was a maximum LV wall thickness 13 mm or greater. We screened 988 men with LVH for plasma α-Gal A activity. In patients with low α-Gal A activity (< 3 nmol/hr/mL), we searched for mutations in the α-galactosidase gene. In seven men, α-Gal A activity was low. Three had previously identified mutations; Gly328Arg, Arg301Gln, and His46Arg. Two unrelated men had the E66Q variant associated with functional polymorphism. In two patients, we did not detect GLA mutations, although α-Gal A activity was low on repeated assessment. We identified three patients (0.3%) with Fabry disease among unselected Korean men with LVH. Although the prevalence of Fabry disease was low in our study, early treatment of Fabry disease can result in a good prognosis. Therefore, in men with unexpla...Continue Reading

References

Apr 1, 1969·The American Journal of Cardiology·M V Herman, R Gorlin
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Jan 26, 1999·JAMA : the Journal of the American Medical Association·P J MeikleW F Carey
Jul 7, 2001·The New England Journal of Medicine·C M EngInternational Collaborative Fabry Disease Study Group
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Citations

Oct 6, 2020·Case Reports in Nephrology·Amaresh R VangaThomas R McCune

Methods Mentioned

BETA
blood drawn
PCR
biopsy
genotyping

Related Concepts

Alpha-galactosidase
Fabry Disease
Differential Diagnosis
Echocardiography
Genes
Lysosomes
Male Population Group
Plasma
Left Ventricular Hypertrophy
Evaluation

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