Onset may occur at any age
Some patients may be asymptomatic while others may experience one or more symptoms
The nature and severity of some symptoms may fluctuate as the disease progresses.
Symptoms often mimic other diseases, and many people are misdiagnosed or assume they have already been tested.2,3
Make sure to talk to your doctor about testing if you are experiencing any of the signs or symptoms listed below.
Normal spleen function is disrupted, potentially leading to anemia, fatigue, easy bleeding. Physicians may refer to this as spleen enlargement.
Normal liver function is disrupted, potentially leading to fibrosis (scarring) of the liver. Physicians may refer to this liver enlargement as hepatomegaly.
People feel bloated, and look overweight or pregnant, because their abdomen protrudes.
Accumulation of Gaucher cells in the bones and spleen can interfere with the production of blood cells:
Reduction of red blood cells—may lead to anemia and fatigue
Reducing blood clotting cells (platelets)—which makes it harder for your blood to clot and may result in easy bruising and bleeding
94% of patients with Gaucher disease type 1 have clinical or radiologic evidence of bone disease, including:4,8
Your bones may be affected even if you are not feeling bone pain
people with Gaucher disease type 1 develop symptoms during childhood
are diagnosed before 10 years of age
are diagnosed between 11 and 20
Ignoring the signs and symptoms of Gaucher disease can lead to a diagnostic delay of up to 10 years.2 Gaucher disease is progressive and may lead to:2,6,7
Early diagnosis and timely treatment remain important, as damage caused by Gaucher disease may be irreversible. Talk to your doctor; it’s just a simple blood test.
Treatment options include oral therapies.5,6
Treatment options include oral therapies.4,6
Treatment options include oral therapies.1,2
Treatment options include oral therapies.4,5LEARN MORE
1. Pastores GM, Weinreb NJ, Aerts H, et al. Therapeutic goals in the treatment of Gaucher disease. Semin Hematol. 2004;41(suppl 5):4-14.\
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, Weinthal JA, Weinreb NJ. Disease state awareness in Gaucher disease: a Q&A expert roundtable discussion. Clin Adv Hematol Onc. 2012;10(6):1-16.
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. 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). pii: E441.
6. 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
7. Cox TM. Gaucher disease: clinical profile and therapeutic developments. Biol Targets Ther. 2010;4:299-313
8. 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.