Symptoms are diverse, unpredictable, and variable1

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

Know the Signs and Symptoms

Make sure to talk to your doctor about testing if you are experiencing any of the signs or symptoms listed below.

Organs

diagram of the human body showing the location of the spleen and liver

The spleen can swell to 15x its normal size or more4

Normal spleen function is disrupted, potentially leading to anemia, fatigue, easy bleeding. Physicians may refer to this as spleen enlargement.

The liver can enlarge up to 2.5x its normal size4

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.

Blood

diagram of the human body showing the heart and major arteries and veins

Accumulation of Gaucher cells4

Accumulation of Gaucher cells in the bones and spleen can interfere with the production of blood cells:

Reduction of red blood cells4

Reduction of red blood cells—may lead to anemia and fatigue

Reducing blood clotting cells (platelets)4

Reducing blood clotting cells (platelets)—which makes it harder for your blood to clot and may result in easy bruising and bleeding

Bones

diagram of the human body showing the skeleton

Gaucher cells can build up in bone marrow, crowding out the cells that build up bone mass. This makes it hard for essential bone minerals, such as calcium and phosphorus, to strengthen bones and keep them in good shape. With Gaucher disease, bones may become thinner and weaker than usual, causing pain, and may break or fracture easily.

94% of patients with Gaucher disease type 1 have clinical or radiologic evidence of bone disease, including:4,8

  • Reduction of red blood cells - may lead to anemia and fatigue
  • Bone pain
  • Osteopenia and osteoporosis: Loss of calcium and mineral content can weaken bones, increasing your risk for a bone to break.
  • Spontaneous fractures
  • Joint pain, arthritis, joint deformity (Erlenmeyer flask), and joint damage

Your bones may be affected even if you are not feeling bone pain

Gaucher disease symptoms most often appear during childhood, but may also progress without obvious signs in people with more mild variants of the disease, which can cause irreversible damage if not diagnosed.2,5

approximately 2 in 3

people with Gaucher disease type 1 develop symptoms during childhood

49%

are diagnosed before 10 years of age

17%

are diagnosed between 11 and 20

Consequences of delayed diagnosis and treatment

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

  • Continued spleen and liver enlargement
  • Increased bleeding
  • Bone crisis and fractures
  • Delayed growth and failure to grow in children
  • Reduced quality of life
  • Shortened life and increased cancer risk
  • Inflammation throughout the body
  • Fatigue caused by anemia, resulting form a lack of red blood cells
patient being comforted

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.

Lab technician with a petri dish and pipette

If you suspect Gaucher, get tested

Talk to your doctor -it’s a simple blood test

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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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Doctor speaking to a patient

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References:

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.