Gaucher Disease

Symptoms of Gaucher Disease

Symptoms of Gaucher disease can appear at any time from early childhood to adulthood. When Gaucher cells build up in the liver, spleen, bone marrow and other organs such as the lungs, it can cause symptoms such as:

  • Bone pain, bone crisis
  • Weak bones that fracture easily
  • Anemia (low red blood cell count, which causes fatigue, easy bruising and bleeding)
  • An enlarged spleen and liver
  • Breathing problems

The type and severity of symptoms varies from patient to patient. Some patients do not experience any symptoms until older adulthood, while others develop the condition during childhood. Gaucher is progressive and if left untreated usually becomes worse over time. The symptoms of Gaucher disease can be very painful. The disease makes it hard for patients to move around; can damage joints and cause bones to break.

How is Gaucher disease diagnosed?

Gaucher disease is usually diagnosed with a blood test that measures glucocerebrosidase enzyme activity. In individuals with Gaucher disease, enzyme activity is much lower than usual. Glucocerbrosidase activity may also be tested using a skin sample or bone marrow biopsy.

Who should be tested?

Anyone with Gaucher symptoms, especially delayed growth, general weakness, enlarged spleen or liver, anemia, bone pain or spontaneous fractures should consult with their doctor and be tested.

Because Gaucher disease is inherited, if you are diagnosed with Gaucher disease your close family members should also be considered for testing.