Pharm Notes
The Fabry Disease
PNR-140 Clinical
April 20, 2013
Mrs. Tunner
The Fabry Disease The Fabry Disease is a hereditary disorder, caused by the lack of or faulty enzyme needed to metabolize lipids, fat-like substances that include oils, waxes, and fatty acids. The enzyme is known as ceramide trihexosidase, also called alphagalactosidase A. The mutation of the gene causes a build up to harmful levels in the eyes, kidneys, autonomic nervous system, and cardiovascular system. It is an x-linked recessive inheritance. Therefore it is the females that carry it. The ones who are mostly affected by this disease are the males. Female’s carriers, though, may develop angiokeratomas and may have problems with burning pains. Very few of the carriers may also have kidney or heart problems. This disease occurs in 1 out of 40,000 to 60,000 people. A person with the Fabry disease develops angiokeratomas, which are clusters of raised, dot-like lesions. Appearing during childhood or puberty in the genital and thigh areas, these angiokeratomas increase in size and number. Other symptoms of this disease are burning pains in hands or feet, nausea, vomiting, abdominal pains, dizziness, headaches and generalized weakness. Swelling of the legs, caused by the gathering of lymph, a yellowish body fluid, under the skin may also occur. Skin will show telangiectasis, inflated intraepidermal spaces filled with blood. Places (vessel wall) where there is no telangiectasis are filled with deposits of glycolipids. These deposits are also found in the heart, muscles, renal tubules and glomeruli, central nervous system, spleen, liver, bone marrow, lymph nodes and cornea. Retarded growth, delayed puberty and ocular abnormalities are also common symptoms. These symptoms are mostly fond in males because they display full-blown syndrome, while females displays a partial form. Diagnosis can be made in males by testing for deficient a-galactosidase A enzyme. After being diagnosis with
PNR-140 Clinical
April 20, 2013
Mrs. Tunner
The Fabry Disease The Fabry Disease is a hereditary disorder, caused by the lack of or faulty enzyme needed to metabolize lipids, fat-like substances that include oils, waxes, and fatty acids. The enzyme is known as ceramide trihexosidase, also called alphagalactosidase A. The mutation of the gene causes a build up to harmful levels in the eyes, kidneys, autonomic nervous system, and cardiovascular system. It is an x-linked recessive inheritance. Therefore it is the females that carry it. The ones who are mostly affected by this disease are the males. Female’s carriers, though, may develop angiokeratomas and may have problems with burning pains. Very few of the carriers may also have kidney or heart problems. This disease occurs in 1 out of 40,000 to 60,000 people. A person with the Fabry disease develops angiokeratomas, which are clusters of raised, dot-like lesions. Appearing during childhood or puberty in the genital and thigh areas, these angiokeratomas increase in size and number. Other symptoms of this disease are burning pains in hands or feet, nausea, vomiting, abdominal pains, dizziness, headaches and generalized weakness. Swelling of the legs, caused by the gathering of lymph, a yellowish body fluid, under the skin may also occur. Skin will show telangiectasis, inflated intraepidermal spaces filled with blood. Places (vessel wall) where there is no telangiectasis are filled with deposits of glycolipids. These deposits are also found in the heart, muscles, renal tubules and glomeruli, central nervous system, spleen, liver, bone marrow, lymph nodes and cornea. Retarded growth, delayed puberty and ocular abnormalities are also common symptoms. These symptoms are mostly fond in males because they display full-blown syndrome, while females displays a partial form. Diagnosis can be made in males by testing for deficient a-galactosidase A enzyme. After being diagnosis with
Cited: Desnick RJ, Y. I. (2012). The Metabolic and Molecular Bases of Inherited Disease. Retrieved April 20, 2013, from α-galactosidase A deficiency: Fabry disease: http://www.fabrycommunity.com/Healthcare/About/Diagnosing.aspx What is Fabry Disease . (2008). Retrieved April 20, 2013, from http://www.fabry.org/fsig.nsf/pages/fabry