Diagnosing Gaucher Disease

Early diagnosis of Gaucher disease is important

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.1 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.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.

Download and review these full diagnostic case studies
Gaucher Disease Patient Case Studies Brochure
Identifying Gaucher disease in patients of Ashkenazi ancestry3

Test for Gaucher disease as a first-line investigation in any patient of Ashkenazi ancestry presenting with splenomegaly and/or thrombocytopenia.

In patients presenting with splenomegaly and thrombocytopenia, rule out malignancies. Bone marrow biopsy is usually performed to rule out bone malignancies.3

Identifying Gaucher disease in patients of Ashkenazi ancestry
Identifying Gaucher disease in patients of non-Ashkenazi ancestry3

Consider Gaucher disease in the differential diagnosis:

  • In patients presenting with splenomegaly and thrombocytopenia after ruling out malignancies3
  • In this setting, bone marrow biopsy is usually performed; it should become routine to search for Gaucher cells as well as for evidence of hematological malignancies. However, bone marrow cytohistological examinations are neither necessary nor sufficient for diagnosing Gaucher disease. A simple enzyme assay must be done to confirm diagnosis3
  • In any patient being considered for splenectomy when the cause of splenomegaly has not been established4
Identifying Gaucher disease in patients with Non-Ashkenazi ancestry

Regardless of symptoms or severity, Gaucher disease is progressive, so it is important to diagnose Gaucher disease type 1 as soon as possible and initiate timely treatment.2

Gaucher disease type 1 can be effectively managed7

Treatment options include oral therapy.7

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References: 1. Mehta A, Belmatoug N, Bembi B, et al. Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher expert physicians. Mol Gen Metab. 2017;122(3):122-129. 2. 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. 3. 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. 4. Weinreb NJ, Rosenbloom BE. Splenomegaly, hypersplenism, and hereditary disorders with splenomegaly. Open Journal of Genetics. 2013;3:24-43. 5. 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. 6. Pastores GM, Hughes DA. Gaucher disease. GeneReviews®. Seattle WA: NCBI Bookshelf. https://www.ncbi.nlm.nih.gov/books/NBK1269/?report=printable. Accessed Published 27, 2000. Updated June 21, 2018. Accessed July 2, 2018. 7. Charrow J, Andersson HC, Kaplan P, et al. The Gaucher registry. Demographics and disease characteristics of 1698 patients with Gaucher disease. Arch Intern Med. 2000;160(18):2835-2843.