Gaucher’s, << goh SHAYZ, >> disease is a severe hereditary disorder that affects the spleen, liver, bones, and, in some forms of the disease, the brain and nerves. Gaucher’s disease results from the accumulation of a chemical called glucocerebroside, which forms as the body replaces worn-out tissues. In most people, this chemical is broken down by an enzyme known as glucocerebrosidase. Gaucher’s patients do not produce enough glucocerebrosidase. As a result, glucocerebroside builds up in cells called macrophages in affected organs. These swollen Gaucher cells damage the organs.
There are three major forms of Gaucher’s disease. Type 1, the most common form, can begin at any age. It is characterized by damage to certain bones and joints and by enlargement of the spleen and liver. Many type 1 patients die prematurely from such complications of the disease as pneumonia or blood disorders. Type 1 disease primarily affects Jews of central or eastern European ancestry.
Type 2 and type 3 are rarer. Type 2 generally appears during the first six months of life. It is characterized by intellectual disability, loss of muscle control, and enlargement of the spleen and liver. Most patients die by age 2. Type 2 has not been linked to any particular group of people. Type 3 begins during later childhood. It includes all the symptoms of type 1, plus intellectual disability, poor coordination, and muscle weakness. Most patients die from disease-related complications between the ages of 15 and 30. Type 3 occurs mainly among persons of northern Swedish ancestry.
A person inherits two genes—one from each parent—that control production of the enzyme glucocerebrosidase. Gaucher’s patients inherit an abnormal gene—called the Gaucher gene—from both parents. A person who inherits one normal gene and one Gaucher gene does not have Gaucher’s disease but is a carrier of the disorder. If two carriers have children, each child has 1 chance in 4 of developing the disease. Doctors can usually determine if an unborn baby has Gaucher’s disease by testing genes and enzyme levels in both the unborn baby and its parents.
A treatment called enzyme replacement therapy has been successful in treating the disorder. In this treatment, a form of glucocerebrosidase is slowly injected into the patient’s blood. The enzyme is absorbed into macrophages, where it breaks down accumulated glucocerebroside.
