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Gaucher’s disease is a genetically inherited disorder that causes a deficiency in the enzyme glucocerebrosidase. This enzyme is required to break down the fatty substance glucocerebroside.
When this enzyme is deficient, glucocerebroside accumulates in certain cells, particularly macrophages. The macrophages become swollen and dysfunctional and form deposits in various important organs and tissues. Gaucher's disease is one of the most common forms of lysosomal storage disease.
Diagnosis is usually made based on a combination of physical assessment and laboratory testing. The blood is tested to check the level of glucocerebrosidase and genetic testing can be used to confirm the diagnosis. Individuals planning a family may want to undergo genetic screening if there is a genetic risk factor such as Ashkenazi Jewish heritage or a family history of the condition.
Other clinical features that are suggestive of Gaucher’s disease include the following:
Some of the symptoms that may feature in Gaucher’s disease include: