How is Gaucher disease
diagnosed?

Diagnosing Gaucher disease can sometimes be a challenge. Some people may have symptoms for many years without knowing they have the condition. When symptoms develop, they can often be confused with other conditions. For these reasons, it can sometimes take time before a diagnosis is made.7

Enzyme Testing

A test called an enzyme assay measures glucocerebrosidase activity in the blood or urine. People with Gaucher disease will have very low levels of enzyme activity.7

Genetic Testing

Testing can be done to identify carriers of Gaucher disease. Genetic testing may also help identify specific gene mutations to determine which type of Gaucher disease a person has.7,8

Additional Testing

Some other tests are related to diagnosing or monitoring Gaucher disease:

  • Magnetic resonance imaging (MRI) may help show extent of disease.
  • Computed tomography (CT) scan may show disease in the bone and soft tissue.
  • Quantitative chemical shift imaging (QCSI) evaluates the extent of bone marrow involvement and disease severity.
  • Dual-energy X-ray absorptiometry (DEXA) measures bone density.
  • Bone marrow biopsy may be performed to help rule out other serious conditions.
  • Blood tests to measure the haemoglobin level and platelet count.

Monitoring

Your doctor will carry out additional tests over time to track any progression of your condition. This will include blood tests and also tests to assess the size of your liver and spleen, the strength of your bones and your heart.8

Why is early diagnosis
important?

Gaucher disease is a progressive condition.9 Left untreated, it can become debilitating and even lead to death. Some serious symptoms may become irreversible if treatment is delayed. That is why an early diagnosis is important.7

  • Family history
  • Enlarged spleen
  • Enlarged liver
  • Bone abnormalities
  • Low haemoglobin
  • Low platelet count