Gaucher disease is a rare, progressive, genetic disorder that results in multi-organ dysfunction
Over 90% of patients are type 1, which can be effectively managed once diagnosed.1,2
Gaucher disease type 1 is more prevalent than you think
More than 90% of patients with Gaucher disease have type 1.2 Although Gaucher disease type 1 is a rare genetic condition, it’s important to understand its occurrence in different patient populations.
Estimated prevalence of Gaucher disease type 13,4
~1 in 50,000 to 1 in 100,000
Panethnic and occurs in ~1 in 50,000 to 1 in 100,000 in the general population
~1 in 500 to 1 in 1,000
More common in people of Ashkenazi Jewish heritage
~90%
of Jewish Americans are of Ashkenazi Jewish heritage
- In patients of Ashkenazi Jewish heritage, the frequency of Gaucher disease has a higher incidence (~1 in 500 to 1 in 1,000) than hematologic malignancies (~1 in 2,500)2
- In patients of Ashkenazi Jewish heritage, ~1 in 12 is a carrier5
- Despite the high frequency of Gaucher disease among patients of Ashkenazi Jewish heritage, Gaucher disease type 1 is panethnic2
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ERT=enzyme replacement therapy.
Indication
References: 1. Mistry PK, Sadan S, Yang R, Yee J, Yang M. 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. Nalysnyk L et al. Hematology. 2017;22(2):65-73. 4. National Human Genome Institute. About Gaucher disease. National Institutes of Health. Updated January 4, 2012. Accessed August 2, 2025. www.genome.gov/Genetic-Disorders/Gaucher-Disease 5. Mistry PK, Weinthal JA, Weinreb NJ. Disease state awareness in Gaucher disease: a Q&A expert roundtable discussion. Clin Adv Hematol Oncol. 2012;10(6 Suppl 8):1-16.
