title: Fabry disease. A case report.
abstract: Fabry disease is an under-recognized X-linked recessive lysosomal storage disorder resulting from the deficient activity of the enzyme alpha-galactosidase A (alpha-Gal A). The first case of Fabry disease in Slovenia was diagnosed in 1991. This 46 year-old male was referred for dermatologic evaluation of a purpura on his abdomen. He was being treated for proteinuria and cardiac symptoms. The diagnosis of angiokeratoma corporis diffusa (Fabry disease) was made clinically and confirmed by demonstration of the deficient leukocyte alpha-Gal A activity. The patient subsequently developed cerebrovascular symptoms, coronary disease, and renal failure, and died from a recurrent myocardial infarction. Family studies identified several other affected males and carrier female relatives with this X-linked recessive disorder. This case illustrates the typical multi-manifestations of this inherited disease which now can be safely and effectively treated by enzyme replacement therapy. Early diagnosis is important for the most effective treatment of this disease.
authors.affiliation: Dermatology Service, General Hospital Slovenj Gradec, 2380 Slovenj Gradec, Slovenija. f.kotnik@siol.net
authors.forename: Jozica
authors.initials: J
authors.lastname: Kotnik
authors.forename: Franc
authors.initials: F
authors.lastname: Kotnik
authors.forename: Robert J
authors.initials: RJ
authors.lastname: Desnick
mesh_terms: D018450:Disease Progression; D000795:Fabry Disease / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D017809:Fatal Outcome; D006801:Humans; D007676:Kidney Failure, Chronic / Q000150:complications / Q000209:etiology*; D008297:Male; D008875:Middle Aged; D009203:Myocardial Infarction / Q000150:complications / Q000209:etiology*; D011507:Proteinuria / Q000209:etiology*; D013997:Time Factors; D000519:alpha-Galactosidase / Q000235:genetics
chemical_list: D000519:alpha-Galactosidase