Definition

Gaucher disease is a rare disease. It causes the abnormal storage of fatty substances. These fatty substances build up in the bones, liver, lungs, spleen and occasionally the brain. There are 3 types of Gaucher disease:

• Type I—most common, found widely in people of Ashkenazi Jewish descent
• Type II—rare, rapidly progressive form
• Type III—rare, most cases found in Japan and Scandinavia

Causes

Gaucher disease is a genetic disease. A faulty gene limits the amount of an enzyme called glucocerebrosidase. The enzyme normally breaks down a fat called glucocerebroside. There is not enough of the enzyme to break down all of this specific fat. As a result, it builds up in the spleen, liver, lungs, bones, and brain.

Risk Factors

A family history of Gaucher is the only known factor that increases the chance of Gaucher.

Symptoms

Symptoms vary across the three types of Gaucher disease. In general, the later the onset of symptoms, the less likely that symptoms will be severe.

Type I symptoms may include:

• Fatigue
• Easy bruising
• Slow or stunted growth in children
• Intestinal problems like abdominal swelling
• Trouble breathing
• Seizures
• Vision problems
• Developmental delays

Types II and III also have additional symptoms.

In type II, rigidity and seizures may appear within the first few months of life. Dementia and intellectual disabilities may appear later. This type is usually fatal by the age of three.

In type III, the primary symptom is a slowly progressive neurologic disease. This can include seizures and mental retardation. 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

The doctor will ask about your child’s symptoms and medical history. A physical exam will be done.

Your child’s bodily fluids and tissue may be tested. This can be done with:

• Blood tests
• Tissue biopsy
• Urine tests

Treatment

There is no treatment for the severe neurologic symptoms that may occur with type II and type III Gaucher.

Treatment options for type I Gaucher include:

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. They can help determine the risk of Gaucher disease in your offspring.

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

The National Gaucher Foundation of Canada http://www.gauchercanada.ca

Gaucher disease. EBSCO DynaMed website. Available at:
http://www.ebscohost.com/dynamed/what.php
Updated March 4, 2013. Accessed August 13, 2013.

Gaucher disease. National Gaucher Foundation website. Available at:
http://www.gaucherdisease.org
Accessed August 13, 2013.

Martins AM, Valadares ER, Porta G, et al. Recommendations on the diagnosis, treatment, and monitoring of Gaucher disease. J Pediatrics. 2009;155(4 Suppl):S10-S18.

3/5/2010 DynaMed’s Systematic Literature Surveillance
http://www.ebscohost.com/dynamed:
FDA approves therapy to treat Gaucher disease. US Food and Drug Administration website. Available at: http://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm202288.htm. Accessed March 5, 2010.