Clinical manifestations and treatment of Anderson-Fabry disease in a middle age man (RCD code: III-2B.2a)

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. Case presentationA 41-year-old man was hospitalized in the department of cardiology in the clinics of Lithuanian University of Health Sciences (LUHS) for coronary angiography in planning to enroll the patient in the waiting list for a kidney transplant.