Gaucher's (also known as Gaucher) disease is a lysosomal storage disease in which glucocerebroside (a sphingolipid, also known as glucosylceramide) accumulates in cells and certain organs.
The overall prevalance of Gaucher disease is 1 in 40,000 to 1 in 50.000 live births however prevalance increases in certain populations (e.g. Type 1 may affect 1 in 850 Ashkenazi Jews).
There are 3 forms of Gaucher disease with Type 1 accounting for 92% of diagnosed cases. Type 1 Gaucher may present in childhood or adulthood with clinical signs/symptoms including:
Thrombocytopenia and anaemia
Chronic bone / joint pain
Splenomegaly / hepatosplenomegaly
Easy bruising, fatigue and growth retardation
Type 3 is the most mild form of the disease which may present with CNS involvement. Type 2 is the most severe which is rapidly progressive in infancy.
Differential diagnosis includes leukaemia, Immune thrombocytopenic purpura, autoimmune diease, viral disease, multiple myeloma, lymphoma and idiopathic avascular necrosis.
Biochemical diagnosis is via measurement of the enzyme glucocerebrosidase (also known as acid beta glucosidase / leucocyte β-glucosidase).
Consent for genetic testing must be obtained and indicated on the request form that accompanies the blood samples
If possible please avoid collecting samples on a Friday - delays in sending them onto the referral laboratory may compromise sample integrity making them unsuitable for analysis.
Samples received in the laboratory without consent indicated on the form will be sent for the enzyme level only.
Provided by reference laboratory
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