Disease Information for Fabry disease crisis/syndrome

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; 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;

Anderson"s patient was a male aged 39 years who had an eruption on his trunk, genitals and proximal limbs; He recorded that the patient had been afflicted since childhood and that varicose veins, rectal bleeding and albuminuria had developed; Anderson termed the condition "angiokeratoma" and suggested that there might be generalised changes in the vascular system; Fabry conducted independent studies of an affected boy; In his article Fabry used the designation "purpura haemorrhagica nodularis"; Case by Fabry in 1915 under the title "Angiokeratoma corporis naeviforme". Fabry retained his interest in the disorder and published the autopsy findings after his patient"s death in 1930---[whonamedit_com 2005]---------------------------

Fabry disease is a rare genetic disorder of lipid metabolism characterized by a deficiency of the enzyme alpha-galactosidase A, also known as ceramidetrihexosidase; The disorder belongs to a group of diseases known as lysosomal storage disorders; Lysosomes function as the primary digestive units within cells; Enzymes within lysosomes break down or digest particular nutrients, such as certain fats and carbohydrates; Low levels or inactivity of the alpha-galactosidase A enzyme leads to the abnormal accumulation of a substance consisting of fatty material and carbohydrates (glycolipids such as glycosphingolipid) in various organs of the body, particularly blood vessels and the eyes; Symptoms of Fabry disease may include the appearance of clusters of wart-like discolorations on the skin (angiokeratomas), abdominal pain, and/or visual impairment; Later in the course of the disease, kidney failure, heart irregularities, and/or progressive neurological abnormalities may cause serious complications; Fabry disease, which is inherited as an X-linked recessive trait, primarily affects males

---[NORD 2005]-----------

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