Choroba Fabry’ego z zajęciem serca - typowy przebieg i trudności diagnostyczne

Fabry disease is a rare X-linked recessive lysosomal storage disease, which can cause a wide range of systemic symptoms. A deficiency of the enzyme alpha galactosidase A due to mutation causes a glycolipid to accumulate within the blood vessels, other tissues, and organs. This accumulation leads to an impairment of proper heart function. Wide range of symptomps makes diagnosis difficult. We present a case of a 43 year-old male with typical Fabry disease. Kardiol Pol 2011; 69, 4: 364-36