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
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.
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.