Disease: Gaucher disease


    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.

    Source: http://www.mayoclinic.com


    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:

    • Abdominal complaints. Because the liver and especially the spleen can enlarge dramatically, the abdomen can become painfully distended.
    • Skeletal abnormalities. Gaucher disease can weaken bone, increasing the risk of painful fractures. It can also interfere with the blood supply to your bones, which can cause portions of the bone to die.
    • Blood disorders. A decrease in healthy red blood cells (anemia) can result in severe fatigue. Gaucher disease also affects the cells responsible for clotting, which can cause easy bruising and nosebleeds.

    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.

    When to see a doctor

    If you or your child has the signs and symptoms associated with Gaucher disease, make an appointment with your doctor.

    Source: http://www.mayoclinic.com


    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.

    Source: http://www.mayoclinic.com


    During a physical exam, your doctor will press on your or your child's abdomen to check the size of the spleen and liver. To determine if your child has Gaucher disease, the doctor will compare your child's height and weight to standardized growth charts.

    He or she might also recommend certain lab tests, imaging scans and genetic counseling.

    Lab tests

    Blood samples can be checked for levels of the enzyme associated with Gaucher disease. Genetic analysis can reveal whether you have the disease.

    Imaging Tests

    People diagnosed with Gaucher disease typically require periodic tests to track its progression, including:

    • Dual energy X-ray absorptiometry (DXA). This test uses low-level X-rays to measure bone density.
    • MRI. Using radio waves and a strong magnetic field, an MRI can show whether the spleen or liver is enlarged and if bone marrow has been affected.

    Preconception screening and prenatal testing

    You might want to consider genetic screening before starting a family if you or your partner is of Ashkenazi Jewish heritage or if either of you have a family history of Gaucher disease. In some cases, doctors recommend prenatal testing to see if the fetus is at risk of Gaucher disease.

    Source: http://www.mayoclinic.com


    Gaucher disease can result in:

    • Delays in growth and puberty in children
    • Gynecological and obstetric problems
    • Parkinson's disease
    • Cancers such as myeloma, leukemia and lymphoma

    Source: http://www.mayoclinic.com

    Coping and support

    Having any chronic illness can be difficult, but having a rare disease like Gaucher can be even harder. Few people know about the disease, and even fewer understand the challenges you face. You might find it helpful to talk to someone else who has the Gaucher disease or someone who has a child with the disease. Talk to your doctor about support groups in your area.

    Source: http://www.mayoclinic.com

    Risk factors

    People of Eastern and Central European Jewish (Ashkenazi) ancestry are at higher risk of developing the most common variety of Gaucher disease.

    Source: http://www.mayoclinic.com

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