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What Do You Know About Gaucher Disease?

By Chris Woolston
CONSUMER HEALTH INTERACTIVE

In the last decade or so, Gaucher (pronounced go-SHAY) disease has made the leap from a medical mystery to a huge success story. People with this disease lack a crucial enzyme that breaks down a fat called glucocerebroside. The fat then builds up in the body, causing an array of complications ranging from an enlarged liver and spleen to skeletal deformities. For many patients, these problems are all in the past because scientists have found a way to replace the missing enzyme and give patients their lives back. How much do you know about this rare and fascinating disorder? Take this short quiz to find out.


1. What are possible symptoms of Gaucher disease?

a. Fatigue
b. Distended abdomen
c. Increased bruising and bleeding
d. Bone fractures
e. All of the above

2. If a person with Gaucher disease has a child, the child will almost certainly have the disease.

True
False

3. A person with Gaucher disease may not notice symptoms until adulthood.

True
False

4. Gaucher disease takes different forms, but they all respond equally well to today's treatments.

True
False

5. Which ethnic group is especially vulnerable to Gaucher disease?

a. People of African descent
b. People of Asian descent
c. People of Eastern or Central European Jewish descent (Ashkenazi Jews)
d. People of Northern European descent



Last updated Oct 27, 2009


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