What is Gaucher Disease?

Gaucher (pronounced go-shay) disease is a rare, progressive, inherited condition that causes a fatty substance called glucosylceramide (gloo-ko-sil-sara-mide, also called GL-1) to build up in certain organs or bones.1,2 Symptoms can begin at any age and vary in presentation. However, regardless of number or severity of symptoms, they should not be ignored as the disease is progressive, meaning it may get worse over time.3

Gaucher disease type 1 can be effectively managed once a diagnosis is made. Treatment options are available, including oral therapies.4

There are 3 types of Gaucher Disease

More than 90% of Gaucher Disease patients have Type 12

Type 1:

The most common type of Gaucher disease

Onset is in childhood or adulthood

Your doctor may call it non-neuropathic Gaucher disease, meaning it does not usually involve the brain and spinal cord (the central nervous system). It can begin at any age and symptoms can be mild, moderate, or severe.

Some of the most common symptoms include:5,6,7

  • Delayed growth in children
  • Weakness
  • Enlarged spleen or liver (splenomegaly and hepatomegaly)
  • Reduced red blood cells (anemia)
  • Tiredness and fatigue
  • Easy bruising or bleeding
  • Bone or joint pain
  • Bones breaking without reason (fractures)

Type 2:

Onset is in infancy

Also known as acute infantile neuronopathic Gaucher disease, type 2 is a more serious form of disease because it affects the central nervous system. This type of Gaucher disease could cause death before someone reaches 2 years of age.11

Some of the most common symptoms include:11

  • Early onset brain damage
  • Poor development
  • Seizures
  • Spasticity (jerking movements)
  • Poor ability to suck and swallow
  • Enlarged spleen and liver

Type 3:

Onset in childhood

Also known as chronic neuronopathic Gaucher disease, type 3 can start in childhood, but usually symptoms are seen at a later age than in type 2. Many people with Gaucher disease type 3 often reach adulthood.11

Some of the most common symptoms include:

  • Seizures
  • Skeletal problems
  • Eye movement disorders
  • Cognitive problems
  • Poor coordination
  • Enlarged spleen and liver
  • Respiratory problems
  • Blood disorders

5 Important Things To Know About Gaucher Disease


Gaucher disease type 1 can occur in all ethnic groups, affecting ~1 in 40,000 individuals in the general population. People of Ashkenazi Jewish Ancestry have a higher incidence of the disease, with approximately ~1 in 850 being affected8,9


Gaucher disease is not just a childhood disease; onset may occur at any age, including adulthood.3


Don’t ignore any symptoms. Gaucher disease is progressive and can lead to severe consequences even in asymptomatic patients.3


Testing for Gaucher disease is done with a simple blood test called an enzyme assay.6


There are 2 treatment approaches available to manage Gaucher disease: substrate reduction therapy (SRT)–an oral treatment, and enzyme replacement therapy (ERT)—an infusion.3,4,10

Woman suffering from disease symptoms

Know the signs and symptoms

Identify Gaucher disease

Lab technician with a petri dish and pipette

If you suspect Gaucher, get tested

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

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



1. Charrow J, Andersson HC, Kaplan P, et al. The Gaucher registry. Demographics and disease characteristics of 1698 patients with Gaucherdisease. Arch Intern Med. 2000;160(18):2835-2843.

2. Mistry PK, Weinthal JA, Weinreb NJ. Clinical roundtable monograph. Disease state awareness in Gaucher disease: a q&a expert roundtable discussion. Clin Adv Hematol. 2012;10(6 suppl 8):3-16.

3. 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.

4. 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.

5. 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.

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

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

10. Shayman JA. Eliglustat tartrate: glucosylceramide synthase inhibitor treatment of type 1 Gaucher disease. Drugs Future. 2010;35(8):613-620.

11. Grabowski GA, Petsko GA, Phil D, Kolodny EH. Chapter 146: Gaucher disease. In: Valle D, Beaudet AL, Vogelstein B, eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill. https://ommbid.mhmedical.com/content.aspx?bookis=971§ionid=62643884. Accessed October 30, 2020