J Korean Med Sci.  2019 Feb;34(7):e63. 10.3346/jkms.2019.34.e63.

Prevalence of Fabry Disease in Korean Men with Left Ventricular Hypertrophy

• Kim WS
• Kim HS
• Shin J
• Park JC
• Yoo HW
• Takenaka T
• Tei C

• KMID: 2438311
• DOI: http://doi.org/10.3346/jkms.2019.34.e63

Abstract

BACKGROUND
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.
METHODS
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.
RESULTS
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.
CONCLUSION
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 unexplained LVH, differential diagnosis of Fabry disease should be considered.

Keyword

Fabry Disease; Left Ventricular Hypertrophy; Korean Men

MeSH Terms

Diagnosis
Diagnosis, Differential
Echocardiography
Fabry Disease*
Humans
Hypertrophy, Left Ventricular*
Male
Plasma
Prevalence*
Prognosis
Prospective Studies