Gaucher disease is a rare, inherited disease that causes the abnormal storage of fatty substances. There are three types of Gaucher disease:

Type I – the most common type. It is found widely in people of Ashkenazi Jewish descent.

Type II – very rare, but rapidly progressive form of Gaucher disease

Type III – very rare form. Most cases have been found in Sweden, Scandinavia, and Japan.

Causes

Gaucher disease is caused by a deficiency of the enzyme glucocerebrosidase. Instead of degrading naturally, glucocerebroside builds up in the spleen, liver, lungs, and bone marrow. In rare cases, it may also accumulate in the brain.

Risk Factors

A risk factor is something that increases your chance of getting a disease or condition. The primary risk factor for Gaucher disease is having family members with the disease.

Symptoms

The three types of Gaucher disease vary in onset and severity of symptoms. In general, the later the onset of symptoms, the less likely that symptoms will be severe.

Type I symptoms may include:

• Enlargement of the spleen or liver

• Fatigue due to anemia

• “Erlenmeyer flask deformity,” which is deformity of the thigh bones

• Compression of the lungs

• Slow or stunted growth in children

• Bone and joint problems

• Blood abnormalities

• Intestinal problems

• Poor lung and brain function

• Seizures

In type II, neurologic symptoms appear within the first few months of life and are fatal by the age of three.

In type III, the primary symptom is a slowly progressive neurologic disease. Other symptoms are similar to type I and may appear in early childhood. People with type III Gaucher who survive through adolescence may survive until their 30s or 40s.

Diagnosis

Your doctor will ask about symptoms and medical history and perform a physical exam. Diagnosis of Gaucher disease is confirmed with DNA tests or tests that measure glucocerebrosidase activity. These include blood, tissue, or urine tests.

Treatment

There is no treatment for the severe neurologic symptoms that may occur with type II and type III Gaucher. However, new treatment options for type I Gaucher include:

Enzyme Replacement Therapy – the regular infusion of a chemically-modified enzyme, cerezyme. This treatment can help reduce liver and spleen size and skeletal abnormalities and reverse some abnormal blood counts. Zavesca has been approved by the US Food and Drud Administration for treatment of type I Gaucher disease in adults who cannot receive hormone replacement therapy.

Bone Marrow Transplant – This is used only in patients with severe clinical symptoms and bone abnormalities. If it is successful, it provides a lifelong cure.

Splenectomy – the surgical removal of the spleen. It may be done if enzyme replacement therapy is not available.

Prevention

There is no known way to prevent Gaucher disease. If you have Gaucher disease or have a family history of the disorder, you can talk to a genetic counselor when deciding whether or not to have children.

RESOURCES:

Center for Jewish Genetic Diseases
http://www.nfjgd.org

Gauchers Association
http://www.gaucher.org.uk

National Gaucher Foundation
http://www.gaucherdisease.org

National Institute of Neurological Disorders and Stroke
http://www.ninds.nih.gov

National Tay-Sachs and Allied Diseases Association, Inc.
http://www.ntsad.org

References:

Gauchers Association website. Available at: http://www.gaucher.org.uk.

National Gaucher Foundation website. Available at: http://www.gaucherdisease.org.

US Federal Drug Administration website. Available at: http://www.fda.gov.