Gaucher disease is a rare genetic disorder caused by the deficiency or absence of the enzyme glucocerebrosidase. This missing enzyme means that the body is unable to break down and recycle specific fatty substances called glucocerebrosides.The glucocerebrosides accumulate mainly in the spleen, liver, bone marrow, and lung. Cells that become enlarged due to the build up of glucocerebrosides are referred to as Gaucher cells.[1,2]
Gaucher disease is the most common lysosomal storage disorder and affects approximately 1 in 50,000 to 1 in 100,000 people in the general population. However, in specific populations such as Jewish populations of Eastern European (Ashkenazi) origin the disease prevalence is 1:855.
There are three types of Gaucher disease. Type 1 is the most common and accounts for more than 90% of Gaucher patients. Symptoms can vary greatly between patients and can occur at any age, although some patients may not experience symptoms until adulthood, and some may show no symptoms at all. Typical signs and symptoms may include enlarged liver and spleen, anemia, low platelet counts (thrombocytopenia), and skeletal abnormalities.
National Gaucher Foundation
An objective, independent voice of the Gaucher community, providing leadership, outreach and innovative thinking in the US.
- Grabowski GA. Phenotype, diagnosis, and treatment of Gaucher's disease. Lancet. 2008;372:1263-71.
- Mayo Clinic. Gaucher’s disease. Tests and diagnosis. http://www.mayoclinic.org/diseases-conditions/gauchers-disease/basics/tests-diagnosis/con-20031396?DSECTION=all. Accessed May 18, 2015.
- National Library of Medicine. National Institutes of Health. Gaucher disease. http://www.nlm.nih.gov/medlineplus/ency/article/000564.htm. Accessed May 18, 2015
- GuggenbuhlP, GrosboisB, ChalèsG. Gaucher disease. Joint Bone Spine. 2008;75(2):116-124.