Six Facts About Gaucher Disease

ABush | Feb 28th 2013 Feb 22nd 2017

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Gaucher disease is a genetic disorder that affects many of the body’s organs and tissues. Type 1 Gaucher disease is the most common form of this condition; it’s also called non-neuronopathic Gaucher disease. About 1 in 1,000 in Ashkenazi Jews are affected by this disease, and about 1 in 12 Ashkenazi Jews are carriers. This condition ranges from mild to severe and may appear anytime from childhood to adulthood.

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Type 1 Gaucher disease

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. This condition affects 1 in 500 to 1,000 people of Ashkenazi Jewish heritage.

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Autosomal recessive pattern

Type 1 Gaucher Disease is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.Mutations in the GBA gene cause Gaucher disease.

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The age varies

Many women aren’t diagnosed with Type 1 Gaucher disease until they are pregnant when hematologic issues, like anemia and low platelet count, become more apparent. Sometimes, individuals with very mild symptoms, usually with type 1, may not even be aware that they have the disease.

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Type 1 Gaucher’s Disease is the most common, accounting for 90 percent of all cases, and generally the mildest, with almost no effects on the brain. Common symptoms include osteopenia, enlarged liver, excessive fatigue, delayed puberty, and frequent nosebleeds.

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Gaucher disease is very effectively treated with infusions of enzyme replacement therapy (ERT). Prolonged treatment, over the course of two to four years, has been shown to reduce the rate of bone loss, improve bone pain and reduce bone crises. Patients may also be treated with an oral medication called substrate reduction therapy that removes the accumulated fatty substance from the body.

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Genetic testing

Genetic testing can identify approximately 95 percent of carriers. Visit a screening and counseling center for more information. It’s encouraged that prospective parents meet with a genetic counselor and get tested before conception.