Gaucher disease: treatment, types, symptoms, complications, risks, long-term outlook



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What is Gaucher Disease?

Gaucher (pronounced Go-Shay) disease is an inherited metabolic disorder in which harmful quantities of a fatty substance called glucocerebroside accumulate in the spleen, liver, lungs, bone marrow, and, in rare cases, the brain.

Gaucher disease was first described In 1882 by a French physician named Philippe Charles Ernest Gaucher.

Symptoms of Gaucher Disease

The most common symptoms of Gaucher disease are:

bone pain
easily brusing
unexplained fractures
enlarged spleen or liver
frequent nosebleeds
anemia

Types of Gaucher Disease

There are three main forms of Gaucher disease.

Type 1
- The most common type.
- Patients bruise easily and experience fatigue due to anemia, low blood platelets, enlargement of the liver and spleen, weakening of the skeleton, and in some instances, lung and kidney impairment.
- Type 1 may develop early in life or in adulthood.
Type 2
- In this form, liver and spleen enlargement are apparent by 3 months of age. In addition, there is extensive and progressive brain damage.
- Patients usually die before reaching 2 years of age.
Type 3
- Liver and spleen enlargement is variable, and signs of brain involvement such as seizures gradually become apparent.
- All of these patients exhibit a deficiency of an enzyme called glucocerebrosidase that catalyzes the first step in the biodegradation of glucocerebroside. Except for the brain, glucocerebroside arises mainly from the biodegradation of old red and white blood cells.
- In the brain, glucocerebroside arises from the turnover of complex lipids during brain development and the formation of the myelin sheath of nerves.

Can Gaucher Disease be Treated?

There is no permanent cure for Gaucher disease. However, effective enzyme replacement therapy is available for patients with type 1 and type 3 Gaucher disease. This therapy decreases liver and spleen size, reduces skeletal abnormalities.

Unfortunately, there is currently no effective treatment for severe brain damage that may occur in patients with types 2 and 3.

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