The Fabry Disease Essay, Research Paper

The Fabry Disease

Classification

The Fabry Disease is a hereditary disorder, caused by the lack of

alphagalactosidase A. 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 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 of 40,000 people.

Descriptions

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 hand 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 intra-

epidermal (intra – within, epidermal – outer layer) 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

They firsts take a urine sample, which is the first place where they

would find anything. Then they would take a blood, bone marrow and

ophthalmologic examination. Prenatal diagnosis by way of Amniocentesis or

Chronic Villus Sampling is also available.

Prognosis

People affected by this disorder usually dies by the age of 40-50 from

kidney failure or cerbovascular complications.

Treatment

There is only treatment to relieve the pains of the symptoms.

Researchers are working towards the possibility of replacing the enzyme.

Bibliography

The Encyclopedia of Genetic Disorder and Birth Defects, By James

Wynbrandt and Mark D. Ludman, M.D., F.R.C.P.C.