The signs and symptoms of Gaucher disease may not be obvious and commonly mimic the signs and symptoms of many hematological malignancies.1 When Gaucher disease is misdiagnosed, patients may experience delays in diagnosis for up to 10 years.1
Gaucher disease is a rare genetic disease that causes the accumulation of glucosylceramide (GL-1), resulting in progressive, multiorgan dysfunction. This progressive, lifelong disease can go undiagnosed—on average for 4 years.1-4 The earlier patients are tested for Gaucher disease, the sooner they can be diagnosed and treated.1
References: 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. Pastores GM, Weinreb NJ, Aerts H, et al. Therapeutic goals in the treatment of Gaucher disease. Semin Hematol. 2004;41(suppl 5):4-14. 3. 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. 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.