DefinitionBy Mayo Clinic Staff
Gaucher's (go-SHAYZ) disease is the result of a buildup of certain fatty substances in certain organs, particularly your spleen and liver. This causes these organs to become much larger than normal and can affect their function.
The fatty substances associated with Gaucher's disease also can build up in bone tissue. This weakens the bone and increases the risk of fractures. If the bone marrow is affected, it can interfere with your blood's ability to clot.
An enzyme that breaks down these fatty substances doesn't work properly in people who have Gaucher's disease. Treatment often includes enzyme replacement therapy.
An inherited disorder, Gaucher's disease is most common in Jewish people of Eastern and Central European descent (Ashkenazi). Symptoms can appear at any age.
July 02, 2015
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