Gaucher disease is characterized by variable onset and severity along with symptoms that overlap with other conditions. This may obscure clinical suspicion of the disease. Symptoms should not be ignored, as this progressive condition may lead to future medical complications. Early diagnosis of Gaucher disease may help reduce irreversible complications.1,2
Case studies can underscore diagnostic difficulties of Gaucher disease. Examine the heterogeneous presentation of Gaucher disease.
Because Gaucher type 1 prevalence differs among populations, diagnostic approaches should differ as well. These simple diagnostic algorithms may help you identify when to test for Gaucher disease.
Test for Gaucher disease as a first-line investigation in any patient of Ashkenazi ancestry presenting with splenomegaly and/or thrombocytopenia.
Consider Gaucher disease in the differential diagnosis:
1. Mistry PK, Sadan S, Yang R, et al. Consequences of diagnostic delays in type 1 Gaucher disease: the need for greater awareness among hematologists–oncologists and an opportunity for early diagnosis and intervention. Am J Hematol. 2007;82(8):697-701.
2. Mistry PK, Cappellini MD, Lukina E, et al. A reappraisal of Gaucher disease-diagnosis and disease management algorithms. Am J Hematol. 2011;86(1):110-115.
3. Weinreb NJ, Rosenbloom BE. Splenomegaly, hypersplenism, and hereditary disorders with splenomegaly. Open Journal of Genetics. 2013;3:24-43.
4. Stirnemann J, Belmatoug N, Camou F, et al. A review of Gaucher disease pathophysiology, clinical presentation and treatments. Int J Mol Sci. 2017;18(2):ii, E441.