This site is currently under construction. The information below is meant to serve as a general overview of Gaucher Disease Type 1. For additional information speak to a doctor or contact Sanofi Genzyme Support Services at 1-800-745-4447, Option 3 Monday through Friday, 8:00 AM to 6:00 PM EST. 

What Is Gaucher Disease?

Gaucher disease is an inherited genetic condition that causes the fatty substance glucosylceramide (GL-1) to build up in the spleen, liver, and bone. It is the accumulation of GL-1 that causes the signs and symptoms of the disease, but some patients may not have any symptoms at all. People with Gaucher disease do not have enough of the enzyme needed to break down GL-1.1,2,3

There are 3 types of Gaucher disease, types 1, 2, and 3.1 Unlike types 2 and 3, type 1 does not usually involve the brain and spinal cord (central nervous system).1,2

Gaucher Disease Type 1

More than 90% of patients diagnosed with Gaucher disease have type 1, making it the most common type. Gaucher disease type 1 is progressive (meaning it can worsen over time) and can remain undiagnosed for a long time. Gaucher disease type 1 can be effectively managed once a diagnosis is made. The goal of treatment is to reduce or prevent the buildup of GL-1. There are two treatment approaches available, including oral therapies, to help manage some of the signs and symptoms of the disease.

Symptoms of Gaucher Disease Type 1

Gaucher disease type 1 is a lifelong condition with diverse symptoms, age of onset, and disease severity, as well as an unpredictable, progressive disease course. Gaucher disease type 1 can affect the blood, organs, and bones.1,2

Symptoms can mimic other diseases; and for children or adults may include1,4

  • Bruising
  • Fatigue
  • Anemia
  • Nosebleeds
  • Bone fractures
  • Enlargement of the liver and spleen

This simple diagnostic algorithm may help doctors determine when to test for Gaucher disease.5:

Diagnosing Gaucher Disease

Adapted from Mistry PK, et al. Am J Hematol. 2011; 86(1):110-115.

Essentially, this means that if a doctor determines that a patient is experiencing spleen enlargement and/or a low amount of platelets in the blood and has ruled out blood cancer, he or she may consider testing for Gaucher disease.

Testing for Gaucher Disease Type 1

A doctor may want to test for Gaucher disease if a patient presents with signs and symptoms of it that are not explained by other causes, or if a family member has been diagnosed with it.5 A patient with Gaucher disease may experience diagnostic delays up to 10 years, which could impact disease progression.4 If Gaucher disease is suspected, diagnosis can be confirmed via a simple blood test (called an assay).1 Laboratories across the United States offer this blood test, and some provide the service free of charge.

Many people are misdiagnosed or assume they were tested. Talk to a Doctor, it’s just a simple blood test. Get tested.

Or for additional information contact Sanofi Genzyme Support Services at  
1-800-745-4447, option 3

Other testing methods can include3:

  • Demonstration of two known disease-causing copies of the GBA gene can provide additional diagnostic confirmation, but an enzyme assay may be required in certain cases to confirm the diagnosis
  • Although bone marrow biopsy specimens can rule out hematologic malignancies (blood cancers), it is not recommended because they are not reliable for establishing the presence of Gaucher cells


Monitoring Gaucher Disease

Regularly scheduled assessments are important for patients diagnosed with Gaucher Disease type 1, regardless of being on treatment or their experience with symptoms.3



References: 1. Charrow J, Esplin JA, Gribble TJ, et al. Gaucher disease: recommendations on diagnosis, evaluation, and monitoring. Arch Intern Med. 1998;158(16):1754-1760. 2.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. 3.Pastores GM, Hughes DA. Gaucher Disease. 2000 Jul 27 [Updated 2015 Feb 26]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviewsΠ[Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: Accessed April 17, 2018. 4.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. 5.Mistry PK, Cappellini MD, Lukina E, et al. Consensus conference: a reappraisal of Gaucher disease-diagnosis and disease management algorithms. Am J Hematol. 2011;86(1):110-115.