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]}

References:

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. 8^th 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.