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
Your Results
1. What are possible symptoms of Gaucher disease?
The correct answer is: e. All of the above
Patients with type 1, the most common form of the disease, may experience an enlarged liver or spleen, weakening of the skeleton that can cause bones to break, or fatigue due to anemia. They may also bruise easily or bleed excessively.
2. If a person with Gaucher disease has a child, the child will almost certainly have the disease.
The correct answer is: False
People with Gaucher disease have two defective copies of a certain gene. They inherited one of the bad copies from their mother and one from their father. A parent with Gaucher disease will pass one defective copy to each child. But as long as the other parent has two normal copies of the gene — as almost everyone does — there’s no chance that the children will have the disease. However, if the other parent is a Gaucher “carrier” — meaning they have one copy of the defective gene — there’s a 50-50 chance that a child will be affected. If both parents have Gaucher disease, the children will definitely have the disease. Potential parents may seek genetic counseling before they decide to have a baby; after they conceive they could opt for a prenatal screening test such as amniocentesis or chorionic villus sampling to determine whether their child has the disease.
3. A person with Gaucher disease may not notice symptoms until adulthood.
The correct answer is: True
Gaucher disease takes three basic forms. Type 1 Gaucher disease, by far the most common variety, can start early in life but may not become apparent until adulthood. Type 2 Gaucher disease causes extensive brain damage and is usually fatal before the age of two. Type 3 Gaucher disease, a condition that causes mild brain damage, appears in childhood or adolescence.
4. Gaucher disease takes different forms, but they all respond equally well to today’s treatments.
The correct answer is: False
Treatment with Cerezyme or its close cousin Ceredase can dramatically improve the health of all patients with type 1 Gaucher disease and many patients with type 3. At this time, there is no treatment that slows down type 2 Gaucher disease.
5. Which ethnic group is especially vulnerable to Gaucher disease?
The correct answer is: c. People of Eastern or Central European Jewish descent (Ashkenazi Jews)
According to the National Institutes of Health, roughly one in every 18 people of Ashkenazi Jewish ancestry carries a faulty copy of the gene that causes Gaucher disease.
References
National Library of Medicine. National Institutes of Health. Genetics Home Reference. Gaucher disease, type 1. June 13, 2003.
National Center for Biotechnology Information. National Institute of Health. Genes and Disease: Gaucher disease. No date given.
Massachusetts General Hospital. Questions and answers about Cerezyme: A guide for individuals with Gaucher disease. 1997.
National Institute of Neurological Disorders and Stroke. National Institutes of Health. NINDS Gaucher’s disease information page. February 2003.
Mount Sinai School of Medicine. Gaucher disease treatment program. 2003.
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