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Gaucher Disease

Gaucher disease is a rare, genetic disease that causes the abnormal storage of fatty substances by limiting the production of a fat-processing enzyme. These fatty substances build up in the bones, liver, lungs, spleen and occasionally the brain.

Symptoms of Gaucher Disease

In general, the later the onset of symptoms, the less severe. Symptoms vary across the 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

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

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

Tests that can help with diagnosis include:

  • Blood tests
  • Tissue biopsy
  • Urine tests

Treatment for Gaucher Disease

No treatment exists for the severe neurologic symptoms that may occur with type II and type III Gaucher.

Treatment options for type I Gaucher include:

Medications and Enzyme Replacement Therapy

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

This option exists for patients with severe neurological symptoms.

Splenectomy  

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

How to Prevent Gaucher Disease

You cannot 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. 

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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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