AIMS: Anderson-Fabry disease (AFD) is an uncommon X-linked disorder caused by deficient activity of the lysosomal enzyme alpha-galactosidase A. The Fabry Outcome Survey is a European database designed to monitor the long-term efficacy and safety of enzyme replacement therapy (ERT) with agalsidase alfa. The aim of this study was to determine the prevalence and characteristics of cardiac disease in AFD patients. METHODS AND RESULTS: Clinical and laboratory data were available in 714 patients from 11 countries (mean age 35 +/- 17 years, 369 women, 336 treated). The prevalence of angina was 23 vs. 22%; palpitations and arrhythmias 27 vs. 26%; exertional dyspnoea 23 vs. 23%; and syncope 2 vs. 4%, in women and men, respectively (all P = NS). The frequency of all cardiac symptoms was significantly higher in treated than in untreated patients. Gender, age, and glomerular filtration rate were independent determinants of echocardiographically assessed left ventricular hypertrophy (LVH). CONCLUSION: This study confirms the high prevalence of cardiac morbidity associated with AFD. The disease burden in treated women exceeds that of untreated men, suggesting that most women selected for ERT have advanced disease. The presence of LVH is associated with higher frequency of cardiac signs and symptoms and relates independently to gender, age, and renal function.
- MeSH
- alfa-galaktosidasa terapeutické užití MeSH
- dospělí MeSH
- dyspnoe epidemiologie etiologie MeSH
- echokardiografie MeSH
- Fabryho nemoc farmakoterapie komplikace MeSH
- financování organizované MeSH
- hodnoty glomerulární filtrace MeSH
- hypertrofie levé komory srdeční epidemiologie komplikace MeSH
- izoenzymy terapeutické užití MeSH
- lidé středního věku MeSH
- lidé MeSH
- nemoci srdce epidemiologie komplikace MeSH
- prevalence MeSH
- rizikové faktory MeSH
- synkopa epidemiologie etiologie MeSH
- výsledek terapie MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- multicentrická studie MeSH
- Geografické názvy
- Evropa MeSH
