Gaucher disease

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Gaucher disease, also called Gaucher's disease, is an inherited condition that causes harmful fatty substances, called glucocerebrosides, to build up in the liver, spleen, bone marrow, lungs, and sometimes the brain. Glucocerebrosides are fatty carbohydrates that are found in the brain and nervous system.
Glucocerebrosides accumulate in the body because people with Gaucher disease are missing an enzyme called glucocerebrosidase, which normally breaks down glucocerebrosides. When glucocerebrosides accumulate in the body, organ enlargement and dysfunction and bone pain may occur.
Gaucher disease is most common among people of Eastern and Central European (Ashkenazi) descent.
There are three major types of Gaucher disease that are based on the age at diagnosis and whether or not the brain and central nervous system (CNS) are involved.
Type 1, is the most common form, accounting for 95% of all Gaucher disease cases. Type 1 Gaucher disease causes liver and spleen enlargement, bone pain, broken bones, and, sometimes, lung and kidney problems. It does not involve the brain. Although symptoms may develop at any age, most people are diagnosed when they are 20 years old.
Type 2 Gaucher disease develops during infancy and primarily affects the brain and spinal cord. It causes severe brain damage. Most children who have this form of Gaucher disease die by age two.
Type 3 Gaucher disease may cause the spleen and liver to become enlarged and signs of brain involvement develop gradually. Symptoms of type 3 Gaucher disease typically develop during childhood or adolescence.
There is currently no cure for Gaucher disease. People with types 1 and 3 Gaucher disease typically receive enzyme replacement therapy, which helps reduce the buildup of glucocerebrosides in the body. This lifelong therapy has been shown to effectively reduce symptoms, and if properly managed, people have normal life expectancies. However, there is no effective treatment for type 2 Gaucher disease because brain damage is so severe.

Related Terms

Autosomal recessive, bone marrow transplant, cognitive dysfunction, enzyme replacement therapy, Gaucher's disease, glucocerebrosidase, glucocerebrosidase deficiency, glucocerebrosides, osteopenia.