Screening patients with hypertrophic cardiomyopathy for Fabry disease using a filter-paper test: the FOCUS study
Open Access
- 9 November 2010
- Vol. 97 (2), 131-136
- https://doi.org/10.1136/hrt.2010.200188
Abstract
Background Patients with Fabry disease (FD) show left ventricular hypertrophy (LVH) mimicking hypertrophic cardiomyopathy (HCM) of sarcomeric origin and might benefit, if detected early, from specific enzyme replacement therapy. The prevalence of FD in patients with LVH of 13 mm or greater, screened using the leucocyte alpha-galactosidase A (α-gal A) activity test, a technique that is difficult to apply routinely, ranged from 0% to 6%. Objective To screen systematically for FD in patients with a diagnosis of HCM (LVH ≥15 mm) in primary cardiology practice, a validated, physician-friendly α-gal A assay was used on dried blood spots using a filter paper test. Design and patients A cohort of 392 adults (278 men) followed for HCM were screened for FD. A standard blood test was used for confirmation in nine men in whom the α-gal A result was 40% or less. Results Four men (1.5%; 1.8% of men ≥40 years vs 0% Conclusion In male patients diagnosed as having HCM, pure FD cardiac variants are not exceptional and can be specifically identified using a simple filter-paper test. The sensitivity of this test is low in female patients.Keywords
This publication has 26 references indexed in Scilit:
- Life expectancy and cause of death in males and females with Fabry disease: Findings from the Fabry RegistryGenetics in Medicine, 2009
- Long-Term Effects of Enzyme Replacement Therapy on Fabry CardiomyopathyCirculation, 2009
- Onset and progression of the Anderson–Fabry disease related cardiomyopathyInternational Journal of Cardiology, 2008
- Anderson-Fabry disease: long-term echocardiographic follow-up under enzyme replacement therapyEuropean Heart Journal - Cardiovascular Imaging, 2008
- Classification of the cardiomyopathies: a position statement from the european society of cardiology working group on myocardial and pericardial diseasesEuropean Heart Journal, 2007
- Sustained, Long-Term Renal Stabilization After 54 Months of Agalsidase β Therapy in Patients with Fabry DiseaseJournal of the American Society of Nephrology, 2007
- Cardiac manifestations of Anderson-Fabry disease: results from the international Fabry outcome surveyEuropean Heart Journal, 2007
- American College of Cardiology/European Society of Cardiology Clinical Expert Consensus Document on Hypertrophic Cardiomyopathy A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the European Society of Cardiology Committee for Practice GuidelinesEuropean Heart Journal, 2003
- Prevalence of Anderson-Fabry Disease in Male Patients With Late Onset Hypertrophic CardiomyopathyCirculation, 2002
- Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous malesJournal of Medical Genetics, 2001