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Gauchers Disease

Gauchers Disease

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Published by: KBS on Mar 19, 2010
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10/23/2012

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Gauchers Disease 
Gaucher disease is an inherited metabolic disorder in which harmful quantities of afatty 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 andexperience fatigue due to anemia and low blood platelets. They also have an enlarged liverand spleen, skeletal disorders, and, in some instances, lung and kidney impairment. Thereare no signs of brain involvement. Symptoms can appear at any age. In
type 2
Gaucherdisease, liver and spleen enlargement are apparent by 3 months of age. Patients haveextensive and progressive brain damage and usually die by 2 years of age. In the thirdcategory, called
type 3
, liver and spleen enlargement is variable, and signs of braininvolvement such as seizures gradually become apparent. All Gaucher patients exhibit adeficiency of an enzyme called
glucocerebrosidase
that is involved in the breakdown andrecycling of glucocerebroside. The buildup of this fatty material within cells prevents thecells and organs from functioning properly. Gaucher disease is one of several lipid storagediseases.
Symptoms: 
Signs and symptoms of Gaucher's disease can vary widely from one person to another. Bonepain or a bone fracture is often the first symptom. Gaucher's disease symptoms mayinclude:Skeletal abnormalities, including thinning of your bones (osteopenia), bone pain andbone fracturesEnlarged liver (hepatomegaly) or spleen (splenomegaly), or bothAnemia, due to fewer healthy red blood cellsExcessive fatigueA 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 movementsImpaired function of your lungs and kidneysBrownish 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 skeletalanomalies, and successfully reverses other symptoms of the disorder, including abnormalblood counts. Bone marrow transplantation (a procedure to replace damaged or destroyedblood-forming cells) can reverse the non-neurological effects of 
type 1
Gaucher disease, butit carries a high mortality rate due to imperfect donor matches. This procedure has beenreplaced by enzyme replacement therapy. There is no effective treatment for severe braindamage that may occur in patients with
types 2
and
3
Gaucher disease.Reference: 
http://www.ninds.nih.gov/disorders/gauchers/gauchers.htmhttp://www.cnn.com/HEALTH/library/gauchers-disease/DS00972.html

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