How is Gaucher disease diagnosed?


Making a diagnosis of Gaucher disease is not difficult. However, since possible symptoms of Gaucher disease are often associated with other, more common diseases, a person suffering from the disease may initially be misdiagnosed. For example, joint pain can be attributed to arthritis or "growing pains" instead of Gaucher disease. If there is a high white blood cell count or a low red blood cell count or platelet count, you may first think of leukemia. An accurate and definitive diagnosis of Gaucher's disease is made with a blood test (or analysis) in which the enzyme activity is measured. The blood sample can be taken in the doctor's practice but must be sent to a specialized medical laboratory for analysis. In healthy individuals, the test demonstrates a normal enzyme activity; in people suffering from Gaucher disease, enzyme activity is clearly reduced.



Enzyme analysis: the accurate test to diagnose Gaucher's disease

A general laboratory examination may include a basic blood test to count the white and red blood cells as well as platelets. However, an enzyme analysis is a much more precise and specialized test. It detects and measures the activity of certain substances, for example a certain enzyme, in the blood. An analysis of glucocerebrosidase in blood cells gives a definitive diagnosis for Gaucher disease.

Sometimes people try to diagnose Gaucher's disease by looking for Gaucher cells in samples of bone marrow (a so-called bone marrow biopsy or aspirate). However, this method does not always provide complete information. An incorrect diagnosis can be made by cells that resemble the Gaucher cells (pseudo Gaucher cells) or because the cells were no present in the specific sample. Enzyme analysis is the only method that is specific to Gaucher disease. In addition, the patient can also undergo a DNA analysis to obtain more information about his or her specific genetic Gaucher code. This DNA analysis is called "genotyping".




In addition to the diagnostic procedures, a physician can also recommend the following tests to better understand the condition of an individual:

  • Abnormal blood levels
    such as elevated phosphate acid levels and "angiotensin converting enzyme" (ACE) in the blood serum, low blood platelet levels, or numbers of red blood cells;
  •  X-rays,
    MRI scans or CT or CAT scans to show defects in the bone;
  • MRI or CT scans
    to accurately measure the extent to which organs such as the liver and spleen are enlarged;
  • Evaluations
    of the quality of life;
  • Special tests
    may also be required to evaluate the extent of the neurological impact in type 3 Gaucher disease.