The Fabry Disease


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.


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.


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.


People affected by this disorder usually dies by the age of 40-50 from
kidney failure or cerbovascular complications.


There is only treatment to relieve the pains of the symptoms.
Researchers are working towards the possibility of replacing the enzyme.


The Encyclopedia of Genetic Disorder and Birth Defects, By James
Wynbrandt and Mark D. Ludman, M.D., F.R.C.P.C.

Category: Science