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Gaucher Disease

Gaucher disease is a rare disease that causes the abnormal storage of fatty substances. These fatty substances build up in the bones, liver, lungs, spleen and occasionally the brain. There are three 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 of Gaucher Disease

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. Those with the disease do not have enough enzymes to break down all of the fat, which builds up in the spleen, liver, lungs, bones and brain.

Symptoms of Gaucher Disease

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 disabilities. 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.

Diagnosing Gaucher Disease

Your doctor will ask about you symptoms and medical history, and perform a physical exam.

Tests that can help with diagnosis include:

  • Blood tests
  • Tissue biopsy
  • Urine tests

Treatment for Gaucher Disease

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:


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 if you cannot tolerate enzyme replacement therapy.

Bone marrow transplant

A transplant is used only in patients with severe neurological symptoms.


Your doctor may need to remove an enlarged spleen as it can lead to other health problems.

How to Prevent Gaucher Disease

There is no known way to prevent Gaucher disease. If you have Gaucher disease or have a family history of the disorder, talk to a genetic counselor to help determine your at-risk family members. 


Call us at 434.243.3675.


Content was created using EBSCO’s Health Library. Edits to original content made by Rector and Visitors of the University of Virginia. This information is not a substitute for professional medical advice. 

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