Cardiac manifestations in a two‑generation family with Fabry disease (RCD code: III‑2B.2a)

Paweł Rubiś, Sylwia Wiśniowska‑Śmiałek, Barbara Biernacka‑Fijałkowska, Magdalena Kostkiewicz, Agata Leśniak‑Sobelga, Piotr Podolec

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Fabry disease (FD), which is also called angiokeratoma corporis difusum, ceramide trihexosidosis, and Anderson-Fabry disease, is an X-linked inborn error of metabolism of glycosphingolipid pathway. It is caused by the deficiency of the the lysosomal enzyme – hydrolase
alpha-galactosidase A, which results in the accumulation and subsequent tissue deposition of globotriaosylceramide, the glycolipid substrate for alpha-galactosidase A. The incidence of the disease varies between 1:17,000 to 1:117,000 males in the Caucasian populations. The disease is less common among women, and if present the symptoms are milder. Enzyme replacement therapy of the agalsidase-A or agalsidase-ß offers a specific treatment for patients with FD. Since 2001 the ERT, using recombinant human alpha-galactosidase A, has become the most efficient and specific  therapy, which address the underlying defect of FD. The guidelines on the ERT greatly vary among countries, the main reason being the high cost of this treatment. Pediatric patients firstly suffer from neurological involvement, manifesting as a persistent, neuropathic pain of the extremities, often misdiagnosed as a “growing pain”, as well as gastrointestinal disorders(diarrhea, nausea, vomiting). In the later stages other organs are becoming involved causing multi-organ failure renal insufficiency, cardiovascular impairment, cerebrovascular incidences, cutaneous changes (teleangiectasias,  angiokeratomas and lymphoedema), malfunction of sensations organs (cornea verticillata, retinal vascular tortuosity) and other symptom like anhidrosis, sweating problems, heat collapse or depression. JRCD 2014; 1 (8): 27–31


angiokeratoma, glycosphingolipid, alpha-galactosidase A, hypertrophic cardiomyopathy


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