Community Advisor Search Send to a friend Home Diseases, Conditions and Injuries Gaucher Disease Pronounced: go-shay disease by Michelle Badash, MS Definition Causes Risk Factors ... Organizations Definition Gaucher disease is a rare, inherited disease that causes the abnormal storage of fatty substances. There are three types of Gaucher disease: Type I the most common type. It is found widely in people of Ashkenazi Jewish descent. Type II very rare, but rapidly progressive form of Gaucher disease. Type III very rare form. Most cases have been found in Sweden, Scandinavia, and Japan. Causes Gaucher disease is caused by a deficiency of the enzyme glucocerebrosidase. Instead of degrading naturally, glucocerebroside builds up in the spleen, liver, lungs, and bone marrow. In rare cases, it may also accumulate in the brain. Risk Factors A risk factor is something that increases your chances of getting a disease or condition. The primary risk factor for Gaucher disease is having family members with the disease. Symptoms The three types of Gaucher disease vary in the onset and severity of symptoms. In general, the later the onset of symptoms, the less likely that symptoms will be severe. | |
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