Disease Information for Fabrys disease/Angiokeratatosis (trihexose ceramide): Definition

  • Hereditary storage disorder affecting vasculature, kidneys,

    heart and skin; vasculopathy with eventual renal failure or heart failure; angiokeratosis early then myocardial infarcts, ischemic events and strokes, cardiomyopathy, angina, with LVH, mitral valve disease, Arrhythmias ;X-linked ceramide trihexose deposits in vasculature, heart, kidney and skin from failed lysosomal galactosidase-A;limited life span death in 5th decade usually--------------------------------------

    Anderson-Fabry disease; Anderson’s syndrome; Anderson-Fabry disease; Fabry’s syndrome; Fabry-Anderson disease; Morbus Anderson-Fabry; Ruiter-Pompen syndrome; Ruiter-Pompen-Wyers syndrome; Sweeley-Klionsky disease or syndrome; Synonyms: Alpha-galactosidase A (GLA) deficiency; angiokeratoma corporis diffusum; angiokeratoma corporis diffusum universalis; angioma corporis diffusum universale; cardiovasorenal syndrome; ceramide trihexosidosis; diffuse angiokeratosis; glycolipid lipidosis; hereditary dystopic lipoidosis; thesaurismosis hereditaria; thesaurismosis hereditaria lipidica; thesaurismosis lipoidica;

    A rare, inherited metabolic disease in which a glycolipid, ceramide trihexoside, accumulates in blood vessels, as well as in numerous tissues and organs; The excessive amounts present in the kidneys and other organs impairs their function; Due to absence of alpha-galactosyl hydrolase; Patients present with the skin lesions, small red spots seen on the lower abdomen, thighs and scrotum, corneal opacities, episodes of fever, primary aparasthesia of the extremities and peripheral edema and renal failure; Prevalent in males, who present full-blown syndrome, females may present a partial form; Symptoms start in childhood or at puberty; Death usually occurs in adulthood;

    --------------[NINDS NIH 2005]--------------