Strategies of Screening for Fabry Disease in Patients with Unexplained Left Ventricular Hypertrophy

In a recent article, Newman et  al1 presented the results of screening for Fabry disease in 1192 adult patients with suspected hypertrophic cardiomyopathy and compared the cost efficacy of α-galactosidase A (α-gal A) measurement with comprehensive galactosidase alpha gene (GLA) testing. The established prevalence of Fabry dise ase was 0.42% and comparable to that in the previous studies. Routine α-gal A measurement followed by confirmatory GLA testing is a well-accepted strategy of screening for Fabry disease in groups that are at risk, which include patients with unexplained left ventricular hypertrophy, end-stage renal disease, or early stroke.

Source: Mayo Clinic Proceedings - July 31, 2019 Category: Internal Medicine Authors: Sergey Moiseev, Ekaterina Karovaikina, Alexey Moiseev, Nikolai Bulanov, Victor Fomin Tags: Letter to the Editor Source Type: research