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:

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