What Is Gaucher's Disease?


Quick Answer

Gaucher's disease is a genetic condition that develops due to an accumulation of a lipid substance called glucosylceramide in different organs, such as the liver, spleen and bone marrow. The condition occurs because an enzyme that metabolizes this lipid substance functions improperly, states Mayo Clinic. There are three forms of Gaucher's disease, ranging from type 1 through 3.

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Full Answer

Gaucher's disease is an autosomal recessive disorder in which both parents carry the defect gene and pass it on to their offspring. This inherited disorder is more prevalent in people of Jewish descent who are from Eastern or Central Europe, noted WebMD. Many people with Gaucher's disease may have type 1.

Type 1 Gaucher's disease can cause symptoms, such as bruising, bone pain, and a swollen liver or spleen. In some cases, patients with this type may not manifest any symptoms or they may be mild. Usually, type 1 Gaucher's disease also may not present symptoms associated with the brain or the spinal cord. With type 2, the spinal cord and brain are affected and some symptoms can be seizures and brain damage. If this form of the disorder affects an infant, it can lead to the child's death by the age of 24 months, notes Mayo Clinic. Type 3 also involves damage to the brain and spinal cord, but the disorder manifests at a later time in a child's life.

Treatment of Gaucher's disease can include medications to control the symptoms and possible surgery to either excise the spleen or for bone marrow transplant. One treatment can be enzyme replacement therapy for type 1 and 3, notes the National Gaucher Foundation. There is no cure for this disorder.

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