Gaucher disease

Glucocerebrosidase deficiency; Glucosylceramidase deficiency

Gaucher disease is a rare genetic disorder in which a person lacks an enzyme called glucocerebrosidase.

Bone marrow aspiration

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 cell, photomicrograph

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 cell, photomicrograph #2

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.

Hepatosplenomegaly

Liver and spleen enlargement (hepatosplenomegaly) can occur as the result of an inherited disorder in which the liver cannot process glucocerebroside. The buildup of this substance in body tissues can cause severe damage to the central nervous system in infants.

Causes

Symptoms

Exams and Tests

Treatment

Support Groups

Outlook (Prognosis)

Possible Complications

Prevention