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| Prevalence of Fabry Disease in Male Patients With Left Ventricular Hypertrophy: Result from the Korea-Japan Joint Study Group for Fabry Disease |
| 경희대학교¹ , Kagoshima University² , 한양대학교³ , 조선대학교⁴, 전남대학교5, 원광대학교6, 전북대학교7, 원주의과대학8, 가톨릭대학교9, 연세대학교10, 울산대학교11 |
| 김우식¹, Toshihiro Takenaka² , 이방헌³ , 홍순표⁴, 박종춘 5 , 정진원6, 고재기 7, 최경훈 8, 김재형 9, 정남식 10, 유한욱11, Chuwa Tei2, 배종화1 |
Background: Fabry disease is an X-linked recessive disorder caused by a deficiency of lysosomal enzyme alpha-galactosidase A (α-Gal A). Previous studies have demonstrated that many patients with Fabry disease have been identified among male patients with left ventricular hypertrophy or hypertrophic cardiomyopathy. Recently, a variant form of Fabry disease was identified with manifestations primarily limited to the heart. The purpose of the present study was to define the frequency of Fabry disease among Korean male patients with left ventricular hypertrophy.
Methods: In this national, prospective, multicenter study, we screened for Fabry disease in 988 Korean male patients with left ventricular hypertrophy on echocardiography. The criterion for the diagnosis of left ventricular hypertrophy was a maximum left ventricular wall thickness ≥13 mm. We measured their plasma α-Gal A activities. Clinical manifestations in patients with low plasma α-Gal A activities were assessed and the α-Gal A gene mutations were evaluated.
Results: Seven (0.7%) of the 988 male patients with left ventricular hypertrophy had no or low plasma α-Gal A activities (α-Gal A activity <3.0 nmoles/hr/ml). Of these seven patients, ranging in age from 24 to 70 years, 3 had hypertension and 2 had renal insufficiency. Left ventricular hypertrophy was concentric in 4 patients and asymmetric in 3 patients. Six patients analyzed α-Gal A gene mutations and 4 patients had a previously identified mutations: Arg301Gln (n=1), His46Arg (n=1), and glu66Gln (n=2). In two patients, enzymatic deficiency was confirmed on repeat assessment, although no GLA mutations were present. In the other patient, the diagnosis of Fabry disease was established by renal biopsy.
Conclusion: We detected Fabry disease in 0.7% of unselected Korean male patients with left ventricular hypertrophy. Although the prevalence of Fabry disease was low in our study (0.7%), routine screening of male patients with left ventricular hypertrophy would provide an opportunity to detect preclinical disease and institute treatment to prevent life-threatening long-term complications.
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