Journal of Rare Cardiovascular Diseases

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

Gubler MC, Lenoir G, Grunfeld JP, et al. Early renal changes in hemizygous and heterozygous patients with Fabry’s disease. Kidney Int 1978; 13: 223–235.

Fogo AB, Bostad L, Svarstad E, et al. Scoring system for renal pathology in Fabry disease: report of the international study group of fabry nephropathy (ISGFN). Nephrol Dial Transplant 2010; 25: 2168–2177.

Hopkin RJ, Bissler J, Banikazemi M, et al. Characterization of Fabry Disease in 352 Pediatric Patients in the Fabry Registry. Pediatr Res 2008; 64: 550–555.

Hoffmann B, Schwarz M, Mehta A, Keshav S. Gastrointestinal symptoms in 342 patients with Fabry disease: prevalence and response to enzyme replacement therapy. Clin Gastroenterol Hepatol 2007; 5: 1447–1453.

Gubler MC, Lenoir G, Grunfeld JP, et al. Early renal changes in hemizygous and heterozygous patients with Fabry’s disease. Kidney Int 1978; 13: 223–235.