The Fabry Disease :: essays research papers fc

The Fabry DiseaseClassificationThe Fabry Disease is a hereditary disorder, caused by the lack ofalphagalactosidase A. It is an x-linked recessive inheritance. Therefore it isthe females that carry it. The ones who are by and large affected by this disease arethe males. Female carriers, though, may develop angiokeratomas and may breakproblems with burning pains. Very few of the carriers may also have kidney orheart problems. This disease occurs in 1 of 40,000 people.Descriptions A person with the Fabry disease develops angiokeratomas, which areclusters of raised, dot-like lesions. Appearing during childhood or puberty inthe genital and thigh areas, these angiokeratomas increase in size and number.Other symptoms of this disease are burning pains in hand or feet, nausea,vomiting, abdominal pains, dizziness, headaches and generalized weakness. lummox of the legs, caused by the gathering of lymph, a yellowish body fluid,under the skin may also occur. Skin will show telangiectasis, infla ted intra- dermic (intra - within, epidermal - outer layer) spaces filled with blood.Places (vessel wall) where there is no telangiectasis are filled with depositsof glycolipids. These deposits are also found in the heart, muscles, renaltubules and glomeruli, central nervous system, spleen, liver, bone marrow, lymphnodes and cornea. retard growth, delayed puberty and ocular abnormalities arealso common symptoms. These symptoms are mostly fond in males because theydisplay full-blown syndrome, while females displays a uncomplete form.DiagnosisThey firsts take a urine sample, which is the first place where theywould find anything. Then they would take a blood, bone marrow andophthalmologic examination.