Gaucher disease (pronounced
go-shay
) is a rare genetic disorder that includes symptoms such as easy bleeding, excessive bruising, severe tiredness, anaemia, bone or joint pains, a protruding belly (due to enlarged liver and spleen) and so called growing pains in children. Gaucher disease can affect all races but has a higher incidence amoung the Ashkenazi Jewish decent population.
Gaucher Disease Overview, Symptoms and Diagnosis
Disease Overview
Gaucher disease (pronounced go-shay) is the most common lysosomal storage disorder. It is caused by a deficiency of an enzyme (glucocerebrosidase). Too little enzyme activity results in accumulation of a lipid (glucocerebroside) in cells primarily in the bone marrow, liver, spleen, and sometimes in the lungs.
Symptoms arise due to these lipid-engorged cells (Gaucher cells) replacing normal healthy cells.
Gaucher disease symptoms include fatigue, excessive bruising and easy bleeding, bone pain, protruding belly due to the enlarged liver and spleen, and pathological fractures.
Major Signs and Symptoms May Include:
- Low haemaglobin count
- Low platelet count
- Enlarged liver and spleen
- Bone pain/bone crises
- Growth retardation
- Pathologic fractures
- Osteopenia (low bone density)
- Avascular necrosis (bone death)
Other Diseases With Similar Symptoms
Diagnosis may be delayed since signs and symptoms may be shared with other disorders. However, early diagnosis and treatment are critical to optimizing outcomes. Some common differential diagnosis includes:
- Chronic Granulocytic leukemia
- Acute lymphocytic leukemia
- Multiple myeloma
- Hodgkin disease
- Lymphomas
- Arthritis
Diagnosis
The diagnosis of Gaucher disease can be made by doing a blood test that measures the enzyme activity in the blood. Genetic testing can also be done.
For more information on how to be tested for Gaucher disease or for genetic counselling please contact:
Division of Human Genetics
National health Laboratory Service
+21 11 489 9223/4
or
Division of Human Genetics
University of Cape Town
+27 21 406 6304
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