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Journal of Rare Cardiovascular Diseases
ISSN: 2299-3711 (Print)
e-ISSN: 2300-5505 (Online)
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Clinical manifestations and treatment of Anderson-Fabry disease in a middle age man (RCD code: III-2B.2a)
Jurgita Plisienė
,  
Rūta Marija Babarskienė
,  
Dovilė Šeikytė
,  
Eglė Ereminienė
,  
Rokas Ereminas
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Abstract
Fabry disease is a genetic lysosomal storage disease (X-linked inheritance), also known as Anderson Fabry disease. It is a lifelong progressive disease, and it develops in patients with the lack of lysosomal enzyme alpha-galactosidase (a-Gal A) and for that reason the globotriaosylceramide(GL-3) accumulates in the endothelium of blood vessels and internal organs, then injury of various organ systems occurs, as renal insufficiency, gastrointestinal disorders, specific changes of the eye fundus, injury of the coronary arteries, hypertrophy of the left ventricle, cardiomyopathy, disorders of the nervous system, specific skin rashes (known as angioceratoma), etc. Therefore, patients with Fabry disease may occur in the practice of each speciality physician. A minor disease course, that occurs in older patients, mainly affects the cardiovascular system and may be undiagnosed. JRCD 2014; 2 (1): 15–17


Keywords
Fabry disease, left ventricular hypertrophy, alpha‑galactosidase
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Classification of Rare Cardiovascular Diseases anticoagulation atrial fibrillation atrial septal defect cardiomyopathy computed tomography congenital heart disease echocardiography electrocardiogram electrocardiography heart failure implantable cardioverter‑defibrillator magnetic resonance imaging pregnancy pulmonary arterial hypertension pulmonary hypertension rare cardiovascular disease rare disease right heart catheterization right ventricular failure
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