Prevalence of Fabry disease in a predominantly hypertensive population with left ventricular hypertrophy |
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Authors: | Wim Terryn Gert Deschoenmakere Jan De Keyser Wouter Meersseman Wim Van Biesen Brigitte Wuyts Dimitri Hemelsoet Hilbert Pascale Julie De Backer An De Paepe Bruce Poppe Raymond Vanholder |
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Institution: | 1. Department of Internal Medicine, Division of Nephrology, Regionaal Ziekenhuis Jan Yperman, Ieper, Belgium;2. Department of Internal Medicine, Division of Nephrology, Heilig Hart Ziekenhuis Roeselare-Menen, Roeselare, Belgium;3. Department of Internal Medicine, Division of Cardiology, Regionaal Ziekenhuis Jan Yperman, Ieper, Belgium;4. Department of General Internal Medicine, Universitaire Ziekenhuizen Leuven, Leuven, Belgium;5. Nephrology Section, Department of Internal Medicine, Universitair Ziekenhuis Gent, Gent, Belgium;6. Department of Clinical Biology, Laboratorium voor metabole ziekten, Universitair Ziekenhuis Gent, Gent, Belgium;g Department of Neurology, Universitair Ziekenhuis Gent, Gent, Belgium;h Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium;i Department of Cardiology, Universitair Ziekenhuis Gent, Gent, Belgium;j Center for Medical Genetics, Universitair Ziekenhuis Gent, Gent, Belgium |
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Abstract: | BackgroundPatients with Fabry disease (FD) develop progressive left ventricular hypertrophy (LVH). In screening studies in patients with LVH, the prevalence of FD ranges from 0 to 12%. This variability is attributable to different factors like diverging inclusion and exclusion criteria, the evaluation of selected populations and suboptimal screening methods.In this study, we aimed to determine the prevalence of FD in an unselected population of everyday clinical practice presenting LVH, defined as a maximal end-diastolic septal or posterior wall thickness ≥ 13 mm, without exclusion of patients with arterial hypertension or valvular pathology, and using optimal screening methods.MethodsIn adult males, a two-tier approach was used; α-Galactosidase A (aGAL A) activity was measured using a dried bloodspot test (DBS) and diagnosis was confirmed by mutation analysis of the GLA gene. In females, mutation analysis was the primary screening tool.Results362 men and 178 women were screened. Six patients were diagnosed with a genetic sequence alteration of the GLA gene. One man had a novel mutation, GLA p.Ala5Glu (c.44C > A), presenting as classical FD. Another man and three women had the previously described GLA p.Ala143Thr (c.427G > A) mutation, which generally presents as an attenuated phenotype. One woman had a novel sequence alteration c.639 + 6A > C, which appeared to be a polymorphism. All true Fabry patients had arterial hypertension (AHT), and one had hypertrophic obstructive cardiomyopathy (HOCM).ConclusionsIn a group of unselected patients with LVH, we found a prevalence of Fabry disease of 0.9%. AHT or type of hypertrophy should not be an exclusion criterion for screening for FD. |
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Keywords: | Fabry disease Left ventricular hypertrophy Screening Hypertension |
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