Gaucher disease
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Gaucher (go-SHAY) disease is the result of a buildup of certain fatty substances in certain organs, particularly your spleen and liver. This causes these organs to enlarge and can affect their function.
The fatty substances also can build up in bone tissue, weakening the bone and increasing 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 with Gaucher disease. Treatment often includes enzyme replacement therapy.
An inherited disorder, Gaucher disease is most common in Jewish people of Eastern and Central European descent (Ashkenazi). Symptoms can appear at any age.
There are different types of Gaucher disease, and signs and symptoms of disease vary widely, even within the same type. Type 1 is by far the most common.
Siblings, even identical twins, with the disease can have different levels of severity. Some people who have Gaucher disease have only mild or no symptoms.
Most people who have Gaucher disease have varying degrees of the following problems:
More rarely, Gaucher disease affects the brain, which can cause abnormal eye movements, muscle rigidity, swallowing difficulties and seizures. One rare subtype of Gaucher disease begins in infancy and typically results in death by 2 years of age.
If you or your child has the signs and symptoms associated with Gaucher disease, make an appointment with your doctor.
To have an autosomal recessive disorder, you inherit two mutated genes, one from each parent. These disorders are usually passed on by two carriers. Their health is rarely affected, but they have one mutated gene (recessive gene) and one normal gene (dominant gene) for the condition. With each pregnancy, two carriers have a 25 percent chance of having an unaffected child with two normal genes (left), a 50 percent chance of having an unaffected child who is also a carrier (middle), and a 25 percent chance of having an affected child with two recessive genes (right).
Gaucher disease is passed along in an inheritance pattern called autosomal recessive. Both parents must be carriers of a Gaucher changed (mutated) gene for their child to inherit the condition.
People of Eastern and Central European Jewish (Ashkenazi) ancestry are at higher risk of developing the most common variety of Gaucher disease.
Gaucher disease can result in:
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Gaucher disease
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