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Gaucher Disease

Pronounced: go-shay disease

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    TOP

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    TOP

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

Symptoms    TOP

Symptoms vary across the 3 types of Gaucher disease. In general, the later the onset of symptoms, the less likely that symptoms will be severe.

Spleen

Nucleus Image
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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 3.

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    TOP

You will be asked 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    TOP

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:

Medications

Certain medications can be used to replace the missing enzyme. This enzyme replacement therapy will be given through regular infusions. This therapy can help reduce abnormalities in the bone, decrease liver and spleen size, and reverse some abnormal blood counts.

Medications that reduce the amount of fatty acids in the blood may be effective for people who cannot tolerate enzyme replacement therapy.

Medications may also be given for bone pain and to relieve bone crises.

Bone Marrow Transplant

A bone marrow transplant is used only in those with severe neurological symptoms.

Bone Marrow Harvest

Bone biopsy
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Splenectomy    TOP

A splenectomy is the surgical removal of the spleen. An enlarged spleen may need to be removed because it can lead to other health problems.

Prevention    TOP

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.

RESOURCES:

Gauchers Association
http://www.gaucher.org.uk
National Gaucher Foundation
http://www.gaucherdisease.org

CANADIAN RESOURCES:

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

References:

About Gaucher. Gauchers Association website. Available at:
...(Click grey area to select URL)
Accessed June 6, 2016.
Gaucher disease. EBSCO DynaMed Plus website. Available at: http://www.dynamed.com/topics/dmp~AN~T114844/Gaucher-disease. Updated April 15, 2015. Accessed June 6, 2016.
Gaucher disease. National Gaucher Foundation website. Available at:
...(Click grey area to select URL)
Accessed June 6, 2016.
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 Plus Systematic Literature Surveillance http://www.dynamed...: FDA approves therapy to treat Gaucher disease. US Food and Drug Administration website. Available at:
...(Click grey area to select URL)
Accessed June 6, 2016.
Last reviewed June 2016 by Kari Kassir, MD
Last Updated: 5/11/2013

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