Gaucher Disease (GD)

What is Gaucher disease (GD)?

Gaucher disease (GD) is an inherited, metabolic disorder that affects lipid storage. It is classified as a lysosomal storage disorder (LSD). It is a rare disease. People with Gaucher disease have a deficiency of the gluococerebrosidase enzyme, that usually plays a role in breaking down fatty substances (lipids) in the body. This causes harmful amounts of lipids to build up in certain parts of the body such as the spleen, liver, and bone tissue. The buildup of lipids in these organs causes them to enlarge and can affect how they function. When lipids accumulate in the bone tissue, they can weaken the bone and increase one’s risk for injuries such as fractures. When lipids accumulate in the bone marrow, they can alter the blood’s ability to clot. Symptoms of this disease can develop at any age and can vary from person to person. In some cases, people may have no symptoms, while others may suffer serious and severe symptoms and complications. 
There are three forms of Gaucher disease that are all characterized based on the presence or lack of neurological complications:
  • Type 1- Nonneuronopathic form: This is the most common form. There are no neurological complications in people with type 1 Gaucher disease. 
  • Type 2- Acute neuronopathic form: This type occurs in newborns/infants. People with type 2 Gaucher disease suffer from severe neurological complications due to accumulation of glucocerebroside (a type of lipid) in the brain. People affected by this type of the disease normally don’t live past two years of age.
  • Type 3- Chronic neuronopathic form: This type occurs in people during the first 10 years of life. It is rare in the U.S., but it is the most common form of Gaucher disease worldwide. People with type 3 Gaucher disease get neurological complications just like in type 2, but these complications develop/progress slower than in type 2. People with this type of the disease typically have a shortened lifespan, but some can live into their 50s. 
Risk factors
  • People of Eastern and Central European Jewish (Ashkenazi) decent 
  • Heredity: Gaucher disease is inherited in an autosomal recessive pattern
When diagnosing Gaucher disease, a doctor will likely do a complete medical history and physical exam. He/she will play close attention to any symptoms one may be having and likely ask about family history. The doctor will also press on the abdomen in order to look for potential enlargement of the spleen and liver, which is a common finding in Gaucher disease. 
Some tests that may be done to diagnose Gaucher disease include:
  • Lab tests such as blood samples may be done in order to look at levels of the glucocerebrosidase enzyme. Genetic analysis can show whether one has the disease. 
  • Imaging tests such as magnetic resonance imaging (MRI) may be done to periodically look at the progression of the disease. Dual energy X-ray absorptiometry (DXA) is done to measure bone density. 
  • Preconception genetic screening and prenatal testing should be considered in people of Ashkenazi Jewish heritage or if there is a known family history of the disease. Prenatal diagnosis of Gaucher disease is possible through amniocentesis or chronic villus sampling
There is no cure for Gaucher disease. Treatment is aimed at relieving symptoms, improving quality of life, and preventing any irreversible damage. 
Potential treatments for Gaucher disease include:
  • Enzyme replacement therapy
  • Spleen removal 
  • Bone marrow transplant 
  • Substrate reduction therapy
  • 1 in every 450 people of Ashkenazi Jewish decent are affected by Gaucher disease 
  • Approximately 1 in 10 people of Ashkenazi Jewish decent are carriers of the genetic mutation that causes Gaucher disease. 
  • Gaucher disease is one of the most common lysosomal storage disorders
  • Gaucher disease affects about 1 in 40,000 live births
about Gaucher disease (GD)

  • "Gaucher disease." Mayo Clinic. Mayo Foundation for Medical Education and Research, 24 May. 2017. Web. 30 Sep. 2017.
  • “Gaucher Disease.” WebMD. Medscape, 18 Aug. 2016. Web. 30 Sep. 2017. 
  • “Gaucher disease.” National Institutes of Health U.S. National Library of Medicine. Genetics Home Reference, 26 Sep. 2017. Web. 30 Sep. 2017. 
  • “What Is Gaucher Disease?” The National Gaucher Foundation, n.d. Web. 30 Sep. 2017. 
  • “Gaucher Disease.” National Organization for Rare Disorders. NORD, 05 Jul. 2013. Web. 30 Sep. 2017. 
  • “Gaucher’s Disease.” WebMD, n.d. Web. 30 Sep. 2017. 



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