What is Gaucher disease?|
Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. In people with this condition, the body is unable to break down a certain type of fat (lipid) called glucocerebroside.
Genetic changes are related to the following types of Gaucher disease.
Gaucher disease, type 1
Gaucher disease, type 2
Gaucher disease, type 3
The signs and symptoms of Gaucher disease vary widely among affected individuals. The major features of this disorder include enlargement of the liver and spleen (hepatosplenomegal
How common is Gaucher disease?
This disease is seen in 1 in 50,000 to 100,000 people in the general population. Type 1 Gaucher disease is the most common form of the disorder, and occurs more frequently in people of Ashkenazi (eastern and central European) Jewish heritage than in those with other backgrounds. The disorder affects 1 in 500 to 1,000 people of Ashkenazi Jewish heritage. Types 2 and 3 Gaucher disease and Gaucher-like disease are uncommon, and do not occur more frequently in people of Ashkenazi Jewish descent.