Gaucher 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 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

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 your risk 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
Spleen
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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

Your doctor will ask about symptoms and medical history. A physical exam will be done.

Your 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:

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 transplant is used only in patients with severe neurological symptoms.

Bone Marrow Harvest
Bone biopsy
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Splenectomy

An enlarged spleen may need to be removed. It can lead to other health problems if it is enlarged and not removed.

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.

Revisions

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