Prevalence of Fabry disease in a predominantly hypertensive population with left ventricular hypertrophy
| Autor: | Hilbert Pascale, Jan De Keyser, Wim Van Biesen, Wouter Meersseman, Julie De Backer, Dimitri Hemelsoet, Raymond Vanholder, Wim Terryn, Anne De Paepe, Gert Deschoenmakere, Bruce Poppe, Brigitte Wuyts |
|---|---|
| Rok vydání: | 2012 |
| Předmět: |
Adult
Male Pathology medicine.medical_specialty Population DNA Mutational Analysis Cardiomyopathy Left ventricular hypertrophy Muscle hypertrophy Young Adult Internal medicine medicine Prevalence Humans cardiovascular diseases education Aged Aged 80 and over education.field_of_study Alpha-galactosidase biology business.industry Enzyme replacement therapy Middle Aged medicine.disease Fabry disease Pedigree alpha-Galactosidase Inclusion and exclusion criteria Hypertension Cardiology biology.protein Fabry Disease Female Hypertrophy Left Ventricular Dried Blood Spot Testing Cardiology and Cardiovascular Medicine business |
| Zdroj: | International journal of cardiology. 167(6) |
| ISSN: | 1874-1754 |
| Popis: | Background Patients 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 ≥13mm, without exclusion of patients with arterial hypertension or valvular pathology, and using optimal screening methods. Methods In 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. Results 362 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). Conclusions In 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect