Definition | Causes | Risk Factors | Symptoms | Diagnosis | Treatment | Prevention

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 based on how the brain is affected:

  • Type 1—most common, found widely in people of Ashkenazi Jewish descent. Brain is not affected.
  • Type 2—rare, rapidly progressive form. Severe brain damage.
  • Type 3—rare, most cases found in Japan and Scandinavia. Does affect the brain but extent can vary.

Spleen

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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. The faulty gene decreases this enzyme and some of this fat is not broken down properly. As a result, the fat 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 from person to person and across the three types of Gaucher disease. Common symptoms across all types include:

  • Abdominal swelling due to liver or spleen enlargement
  • Easy bruising—an enlarged spleen can damage blood cells that help stop bleeding
  • Fatigue
  • Bone pain—including bone crisis, episodes of severe pain
  • Damaged bones such as arthritis or osteoporosis
  • Anemia—low levels of red blood cells
  • Breathing problems—if there is a build up of fats in lungs

Neurological symptoms are only present in types 2 and 3 and may include:

  • Seizures
  • Intellectual and developmental disabilities
  • Muscle spasticity or rigidity
  • Dementia
  • Severe brain damage

In general, the later the age at the start of symptoms, the less likely that symptoms will be severe. People with type 1 Gaucher may have very mild symptoms and is treatable. This type does not affect the growth of the brain.

Type 2 appear within the first few months of life and may also be called acute infantile neuronopathic Gaucher disease. Symptoms are generally all neurological including severe brain damage, seizures, and jerky muscle movements. It is usually fatal by 2 years of age.

Type 3 tends to appear later in childhood. There are neurological symptoms but they are often not as severe as type 2. Symptoms also develop gradually over time. Children with type 3 can survive into adulthood.

Diagnosis

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. Blood tests may be used to:

  • Confirm abnormal enzyme levels
  • Determine red blood cell count—low levels means anemia
  • Determine platelet count—low levels leads to easy bruising
  • Rule out other conditions that can cause similar symptoms

Genetic testing may be needed if changes in enzyme levels are unclear.

Treatment

There is no cure for Gaucher disease. Type 1 can be managed by replacing the missing enzyme. However, this treatment does not affect neurological symptoms found with type 2 and type 3. Supportive care is often only option for severe neurologic symptoms.

Treatment options include:

Medications

Enzyme replacement therapy is delivered through infusions given at a care center. This infusion brings enzymes up to normal levels to prevent fat build up. This may reduce abnormalities in the bone, liver, and spleen. It can also improve or prevent anemia and bleeding problems. It is most effective for people with type 1 Gaucher and may help people with type 3 control non-neurological symptoms. This medication can not pass into the brain so ti is not effective for build up in the brain.

Substrate reduction therapy is a medication that lowers the amount of glucocerebroside (part of fat) the body makes. This therapy is not appropriate for everyone.

Medication for supportive care may include pain medication or medication to help maintain bones.

Surgery

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

Joint replacements may be needed if bone damage has led to severe mobility limitations.

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.