OBJECTIVES: We aimed to study the prevalence of Fabry disease (FD) in patients with hypertrophic cardiomyopathy (HCM). BACKGROUND: There are limited and controversial data about the prevalence of FD in patients with HCM. METHODS: We screened the plasma alpha-galactosidase A activity from 508 unrelated patients with HCM (328 men, 180 women, ages 58 +/- 16 years). Patients with low activity (0% to 30% of the normal control in men, and 0% to 50% in women) underwent genetic study of the GLA gene. RESULTS: We found low plasma activity in 15 patients (3%). Three men had GLA mutations (0.9%): S238N (novel) in 2 and E358del (described) in 1. Two women had described mutations (1.1%): L89P and A143T. Three unrelated men had the D313Y variant previously associated with enzyme pseudo-deficiency. Two women had polymorphisms that did not segregate with the disease in their families. Five women (activity 39% to 47%) had no sequence variants. The familial studies allowed the diagnosis of 14 carriers: 6 women without Fabry manifestations, 3 women with cardiomyopathy, 2 men with renal and cardiac disease, 1 man with microhematuria, 1 woman with first-degree atrioventricular block, and a 32-year-old woman with only renal disease. CONCLUSIONS: By means of a screening based on genotyping of patients with low plasma enzymatic activity, the prevalence of FD in our population of HCM is 1% (0.9% in men and 1.1% in women). This diagnosis is relevant, because it allows the identification of disease carriers that might benefit from enzyme replacement therapy.
OBJECTIVES: We aimed to study the prevalence of Fabry disease (FD) in patients with hypertrophic cardiomyopathy (HCM). BACKGROUND: There are limited and controversial data about the prevalence of FD in patients with HCM. METHODS: We screened the plasma alpha-galactosidase A activity from 508 unrelated patients with HCM (328 men, 180 women, ages 58 +/- 16 years). Patients with low activity (0% to 30% of the normal control in men, and 0% to 50% in women) underwent genetic study of the GLA gene. RESULTS: We found low plasma activity in 15 patients (3%). Three men had GLA mutations (0.9%): S238N (novel) in 2 and E358del (described) in 1. Two women had described mutations (1.1%): L89P and A143T. Three unrelated men had the D313Y variant previously associated with enzyme pseudo-deficiency. Two women had polymorphisms that did not segregate with the disease in their families. Five women (activity 39% to 47%) had no sequence variants. The familial studies allowed the diagnosis of 14 carriers: 6 women without Fabry manifestations, 3 women with cardiomyopathy, 2 men with renal and cardiac disease, 1 man with microhematuria, 1 woman with first-degree atrioventricular block, and a 32-year-old woman with only renal disease. CONCLUSIONS: By means of a screening based on genotyping of patients with low plasma enzymatic activity, the prevalence of FD in our population of HCM is 1% (0.9% in men and 1.1% in women). This diagnosis is relevant, because it allows the identification of disease carriers that might benefit from enzyme replacement therapy.
Authors: W Terryn; R Vanholder; D Hemelsoet; B P Leroy; W Van Biesen; G De Schoenmakere; B Wuyts; K Claes; J De Backer; G De Paepe; A Fogo; M Praet; B Poppe Journal: JIMD Rep Date: 2012-07-29
Authors: Marcella A Wozniak; Steven J Kittner; Stanley Tuhrim; John W Cole; Barney Stern; Mark Dobbins; Marie E Grace; Irina Nazarenko; Robert Dobrovolny; Eric McDade; Robert J Desnick Journal: Stroke Date: 2009-12-10 Impact factor: 7.914
Authors: Helena Poupetová; Jana Ledvinová; Linda Berná; Lenka Dvoráková; Viktor Kozich; Milan Elleder Journal: J Inherit Metab Dis Date: 2010-05-20 Impact factor: 4.982
Authors: E R Benjamin; J J Flanagan; A Schilling; H H Chang; L Agarwal; E Katz; X Wu; C Pine; B Wustman; R J Desnick; D J Lockhart; K J Valenzano Journal: J Inherit Metab Dis Date: 2009-04-18 Impact factor: 4.982