Who should get tested for Gaucher disease?

If you or anyone in your family is experiencing any of the signs and symptoms of Gaucher disease

If you are of Ashkenazi Jewish descent, as Gaucher disease has a higher prevalence in this population

If a family member has been diagnosed with Gaucher disease, you and your direct relatives should get tested too

It’s not always easy to diagnose Gaucher disease type 1 because its symptoms often mimic other diseases. Many people are misdiagnosed or assume they have already been tested.

Gaucher disease is considered a rare disease but in patients of Ashkenazi Jewish descent, ~1 in 850 may be affected.1,2 Further, there is a mild variant of Gaucher disease in the Ashkenazi Jewish population that can cause significant skeletal disease despite the absence of typical disease symptoms.3

Talk to your doctor about getting tested

Many people assume they have been tested but were not. If you suspect Gaucher disease, get tested today—it’s just a simple blood test.

Testing may be available at little or no cost to you.

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Doctor speaking to a patient

Please note: a bone marrow exam is neither necessary nor sufficient for diagnosing Gaucher disease; however, your doctor may consider doing a marrow biopsy to evaluate other problems with your bone marrow or spleen.

When a doctor may suspect Gaucher disease

If you have an enlarged spleen
(called splenomegaly)4

- The spleen may swell up to 15 times
normal size- The abdomen may protrude, appearing overweight or pregnant

Your blood platelet count is low
(called thrombocytopenia)4

- Lowered ability to form clots - Increased tendency for bruising and bleeding

Your doctor rules out any
blood cancer5

(called hematologic malignancies)

Enlarged spleen and low platelet counts are some of the most common symptoms of Gaucher disease.6 However, some patients may not experience these and may even be asymptomatic.

To find out if you have Gaucher disease, your doctor can perform a simple blood test.

For more information about testing or to speak to a CareConnectPSS® PEL (Patient Education Liaison) about Gaucher disease and information about genetic counseling, please contact CareConnectPSS at 1-800-745-4447, Option 3, or visit CareConnectPSS.com. Or, you can visit the National Society of Genetic Counselors website to find a genetic counselor.

This link is provided as a resource only and does not constitute an endorsement by Sanofi Genzyme of the National Society of Genetic Counselors or its programming. Additional resources on this topic may be available and should be investigated. Sanofi Genzyme does not review or control the content of non-Sanofi Genzyme websites.

Doctor speaking to a patient

Gaucher disease can be managed5,6

Treatment options include oral therapies.5,6

Gaucher disease can be managed4,6

Treatment options include oral therapies.4,6

Gaucher disease can be managed1,2

Treatment options include oral therapies.1,2

Gaucher disease can be managed4,5

Treatment options include oral therapies.4,5

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Talk to your doctor

You and your doctor can discuss your symptoms, inheritance and more

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References:

1. Weinreb NJ. Pathophysiology, clinical features, and natural history of Gaucher disease. Clin Adv Hematol Oncol. 2012;10(6) Suppl 8:3-6

2. Memorial Sloan Kettering Cancer Center. More Ashkenazi Jews have gene defect that raises inherited breast cancer risk. The Oncologist News Bulletin. 1996;1:335

3. Lachmann RH, Grant IR, Halsall D, et al. Twin pairs showing discordance of phenotype in adult Gaucher’s disease. Q J Med. 2004;97(4):199-204.

4. Pastores GM, Hughes DA. Gaucher disease. GeneReviews®. Seattle WA: NCBI Bookshelf. https://www.ncbi.nlm.nih.gov/ books/NBK1269/?report=printable. Published July 27, 2000. Updated June 21, 2018. Accessed October 30, 2020

5. 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.

6. 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.