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Often, the patient initially visits their doctor for another problem such as the flu, for non-specific pain, or for a routine check-up. Although making a diagnosis of Gaucher disease is not difficult, some symptoms may resemble other diseases.  The doctor may first perform other tests to eliminate more common disorders.


For example, in cases where patients have low platelet counts, doctors may first test for leukaemia. If a patient complains of joint pain, the doctor may first suspect arthritis. Sometimes specialists at a genetics unit, a haematologist or a metabolic physician, may be helpful in distinguishing the symptoms of Gaucher disease from other diseases with similar symptoms.


Gaucher disease can be diagnosed by a simple blood test – by measuring the amount of enzyme in your blood and checking for mutations in the glucocrebrosidase gene.


Other tests used to make the diagnosis can include biopsy of bone marrow or liver and may be helpful if there are multiple potential causes for a person’s symptoms.  Sometimes testing for Gaucher disease can be recommended if members of the family are known to have Gaucher disease.


Gaucher disease might be suspected in a person who has an unexplained enlargement of the spleen, tendency toward bleeding, bone or joint pains or spontaneous fractures.


A PAEDIATRICIAN might make the diagnosis in a child complaining of abdominal discomfort or of frequent nosebleeds.


A HAEMATOLOGIST might make the diagnosis in a person with low blood or platelet counts.

AN ORTHOPAEDIC DOCTOR might diagnose Gaucher disease in the course of treating someone suffering with frequent unexplained fractures.


Gaucher disease would be particularly suspected in people with family members who are known to have the disease.