Gauchers Disease

Gaucher disease is an inherited metabolic disorder in which harmful quantities of a

fatty substance called glucocerebroside accumulate in the spleen, liver, lungs, bone marrow,
and sometimes in the brain. There are three types of Gaucher disease. The first category,
called type 1, is by far the most common. Patients in this group usually bruise easily and
experience fatigue due to anemia and low blood platelets. They also have an enlarged liver
and spleen, skeletal disorders, and, in some instances, lung and kidney impairment. There
are no signs of brain involvement. Symptoms can appear at any age. In type 2 Gaucher
disease, liver and spleen enlargement are apparent by 3 months of age. Patients have
extensive and progressive brain damage and usually die by 2 years of age. In the third
category, called type 3, liver and spleen enlargement is variable, and signs of brain
involvement such as seizures gradually become apparent. All Gaucher patients exhibit a
deficiency of an enzyme called glucocerebrosidase that is involved in the breakdown and
recycling of glucocerebroside. The buildup of this fatty material within cells prevents the
cells and organs from functioning properly. Gaucher disease is one of several lipid storage
diseases.

Symptoms:

Signs and symptoms of Gaucher's disease can vary widely from one person to another. Bone
pain or a bone fracture is often the first symptom. Gaucher's disease symptoms may
include:
Skeletal abnormalities, including thinning of your bones (osteopenia), bone pain and
bone fractures
Enlarged liver (hepatomegaly) or spleen (splenomegaly), or both
Anemia, due to fewer healthy red blood cells
Excessive fatigue
A greater susceptibility to bruising, which may mean you have a low blood platelet level
(thrombocytopenia)
Cognitive deterioration, including mental retardation or dementia
Yellow spots in your eyes (pingueculae)
Abnormal eye movements
Impaired function of your lungs and kidneys
Brownish coloring of your skin

Treatment:

Highly effective enzyme replacement therapy is available for most patients with types 1
and 3 Gaucher disease. This therapy decreases liver and spleen size, reduces skeletal
anomalies, and successfully reverses other symptoms of the disorder, including abnormal
blood counts. Bone marrow transplantation (a procedure to replace damaged or destroyed
blood-forming cells) can reverse the non-neurological effects of type 1 Gaucher disease, but
it carries a high mortality rate due to imperfect donor matches. This procedure has been
replaced by enzyme replacement therapy. There is no effective treatment for severe brain
damage that may occur in patients with types 2 and 3 Gaucher disease.

Reference:

http://www.ninds.nih.gov/disorders/gauchers/gauchers.htm

http://www.cnn.com/HEALTH/library/gauchers-disease/DS00972.html