Diagnosing and testing for Gaucher disease

Diagnosing Gaucher disease can pose a challenge. Despite the availability of accurate, non-invasive diagnostic tests (enzyme activity assays and DNA analysis), the initial diagnosis may be challenging and considerable diagnostic delays are not unusual.

The difficulty arises in part because of the relative rarity of the disease--some practitioners may not even consider testing specifically for Gaucher disease, since clinical signs and symptoms may suggest other diseases.[1] [2] Moreover, Gaucher disease's clinical course can be unpredictable: signs and symptoms may take years to emerge, it may span involve multiple anatomical sites, and it may progress at varying rates.[1], [2]


1. Beutler E, Grabowski G. Gaucher disease. In:Scriber CR, Beaudet AL, Sly WS, et al, eds. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York, NY: McGraw-Hill; 2001; 2:3635-3668.

2. Cox TM, Schofield JP. Gaucher's disease: clinical features and natural history. Bailliere's Clinical Haematology. 1997;10(4):657-689.

Gaucher Registry

For more than a decade, the Gaucher Registry has been a global resource to the medical and patient communities, helping to improve outcomes in patients with Gaucher disease. Learn more about participating in the Gaucher Registry ยป