Find out about your own medical history.
You can learn a lot of information from genetic testing and talking with family members.
NEXT: MEDICAL HISTORYPrevalence and impact
Found in roughly 1 in 40,000 in the general population and 1 in 850 in the Ashkenazi Jewish population
Some signs and symptoms of
Gaucher disease type 1
People with Gaucher disease can experience a range of signs and symptoms, with varying degrees of severity that commonly mimic other diseases.
Spleen and liver problems
Gaucher disease causes a fatty substance, called glucosylceramide (gloo-ko-sil-sara-mide, also called GL-1), to fill up certain cells. When these Gaucher cells build up, the affected organs, especially the spleen and liver, can become enlarged. This causes the abdomen to protrude, resulting in possible discomfort and pain. This condition is called hepatosplenomegaly (meaning abnormally enlarged liver and spleen).
Bone and blood problems
Gaucher cells may crowd out (or displace) a good amount of healthy bone marrow. This can contribute to a deficiency in red blood cells (called anemia) and easy bruising and bleeding (due to low platelet, or clotting cell, counts).
Bone marrow displacement can lead to serious problems such as delayed growth, fatigue, chronic bone or joint pain, bone crisis, and bone lesions, and may result in the collapse of the bone itself.
How is Gaucher disease passed down in families?
Certain diseases can run in families and are often inherited in predictable patterns, making it easy to tell who in the family may be at risk. That’s why knowing Gaucher disease is in the family is an important diagnostic tool for doctors. Because of its inheritance pattern, not every generation will have someone affected with Gaucher disease. However, within 1 generation there may be several members who can be affected.
Inheritance of Gaucher disease
The odds of being a carrier or having Gaucher disease depend on your family’s genetic makeup.
If you have Gaucher disease and have brothers and/or sisters, one of these 3 scenarios is possible:
Only by testing will you know which scenario applies to your family.
Understanding Your Medical Family Tree
Gaucher disease affects people differently, and a Medical Family Tree can help you understand the pattern of inheritance in your family and the risk of passing on this disease. A geneticist, genetic counselor, or Sanofi Genzyme CareConnectPSS® Patient Education Liaison (PEL) can help you understand your Medical Family Tree and consider a family discussion.
PSS=Personalized Support Services.
Example of a Gaucher Disease Medical Family Tree
Make the family
connection;
support is available
Because Gaucher disease is inherited, all potentially impacted members of your family should know about your diagnosis. It may not be an easy conversation to have, but it’s an important one. Your Sanofi Genzyme CareConnectPSS Patient Education Liaison (PEL) can help you and your family by providing information on Gaucher disease, how to get tested for the disease, as well as how to talk to family members about getting tested.
Speak with a Patient Education Liaison today.
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