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Gaucher Disease

What Are the Symptoms of Gaucher Disease?

The symptoms of Gaucher disease depend on what type you have. Here are specific symptoms for each type of Gaucher disease:

Type 1.  Symptoms of type 1 may appear any time in your life but usually occur by the teen years. Sometimes the disease is mild and you will not notice any symptoms. The symptoms include:

  • Bone pain
  • Easy bruising
  • Fatigue
  • Enlarged spleen
  • Enlarged liver
  • Bone abnormalities

Type 2. The symptoms of type 2 occur in infants and are life-threatening. Babies with this form usually die before age 2 to 3. The symptoms include:

  • Abnormal eye movements
  • Brain damage, especially to brain stem
  • Failure to thrive
  • High-pitched sound when breathing (stridor)
  • Seizures
  • Enlarged liver
  • Enlarged spleen

Type 3. The symptoms for this type are similar to type 2 but typically occur later in childhood and progress more slowly.

Perinatal Lethal Gaucher disease. The symptoms for this type are extremely severe. Babies usually only live a few days. Symptoms include:

  • Abnormal buildup of fluid in the baby before or soon after birth (hydrops fetalis)
  • Dry, scaly skin and other skin problems
  • Enlarged liver and spleen
  • Severe brain and spinal cord problems

Gaucher disease -- cardiovascular type. The symptoms include:

  • Bone disease
  • Eye problems
  • Hardening of the heart valves
  • Spleen enlargement

Tests for Gaucher Disease

Blood or saliva tests may be done to determine if you are a carrier. If you have a family history of Gaucher disease and are considering getting pregnant, you might talk to your health care provider about genetic testing.

A blood test can be done to diagnose Gaucher disease.

How Is Gaucher Disease Treated?

Treatment depends on what type of Gaucher disease you have.

Enzyme replacement therapy is recommended for all patients with type 1 and those with type 3 that do not have brain damage. This therapy helps to improve abnormal blood counts and reduces spleen and liver enlargement.

There is no effective treatment for type 2 or for people with type 3 that have severe brain damage.

Other treatments may include:

  • Bone marrow transplant to reverse type 1 symptoms (rarely done)
  • Blood transfusions to help with anemia
  • Joint replacement surgery to help you move better
  • Surgery to remove a swollen spleen
1 | 2

WebMD Medical Reference

Reviewed by Louise Chang, MD on August 06, 2012

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