Gaucher disease

Causes and Risks:
Gaucher disease is inherited as an autosomal recessive trait. It is common among Ashkenazi Jews (of central or eastern European descent), with a reported incidence of 1 out of 500 births. The condition may be present as an infantile, juvenile or chronic form. The chronic form is most common, and a person is often not diagnosed until his or her 20s. The juvenile form of Gaucher disease occurs in all nationalities and is also inherited as an autosomal recessive disorder.

With all forms, abnormal deposits of glucocerebroside occur in the liver, spleen, and bone marrow. In the chronic form of Gaucher, an enlarged spleen ( splenomegaly ) may be the first sign of disease. Damage to the bone marrow may cause anemia and associated problems. Death can occur from bone marrow failure.

The infantile form, in addition to spleen and bone marrow damage, causes seizures and damage to the central nervous system (CNS).

The juvenile form begins later in childhood, often the teens, and causes spleen, bone marrow, and CNS damage. Central nervous system symptoms include abnormal gait ( ataxia ), paralysis of eye muscles (ophthalmoplegia), and dementia .

Prevention:
Genetic counseling is recommended for prospective parents with a family history of Gaucher syndrome. People can also be carriers without having a family history of the disease. Testing can determine if parents carry the gene that could pass on Gaucher syndrome. A prenatal test can also tell if the fetus has Gaucher syndrome.

Symptoms:
  • family history of Gaucher syndrome



Signs and Tests:

Signs of the infantile and juvenile form (CNS signs) include:

Tests:



Treatment:
A splenectomy (removal of the spleen) may help the anemia and thrombocytopenia . There is no specific treatment for Gaucher syndrome, although experimental treatments are being tested.

Prognosis:

  • the infantile form of Gaucher disease may lead to early death; most affected children die before age 5 years.



Complications:



Call Your Healthcare Provider:
Call your health care provider if you have, or there is a history of Gaucher disease or a history of it in your family, and you are considering having children. If you have or your child has the disease and begin to show symptoms or complications, call your health care provider.

Additional Information:

  • National Institutes of Health


    A small amount of bone marrow is removed during a bone marrow aspiration. The procedure is uncomfortable, but can be tolerated by both children and adults. The marrow can be studied to determine the cause of anemia, the presence of leukemia or other malignancy, or the presence of some "storage diseases" in which abnormal metabolic products are stored in certain bone marrow cells.



    Gaucher's disease is called a "lipid storage disease" where abnormal amounts of lipids called "glycosphingolipids" are stored in special cells called reticuloendothelial cells. Classically, the nucleus is pushed off to the side and the remainder of the cell is filled with abnormal lipids.



    Gaucher's disease is called a "lipid storage disease" where abnormal amounts of lipids called "glycosphingolipids" are stored in special cells called reticuloendothelial cells. Classically, the nucleus is pushed off to the side and the remainder of the cell is filled with abnormal lipids.