Gaucher disease is a rare, autosomal recessive inherited disorder, equally affecting both males and females. The course of the disorder can vary greatly, from asymptomatic to fatal and is characterized either as a spectrum or by various types. The non-neuronopathic form, or type 1, may be evidenced by liver or spleen enlargement, anemia, bone and joint problems, and bleeding. Neuronopathic Gaucher includes types 2 and 3, which have the addition of neurological complications ranging from mild to fatal, often in early childhood. Although type 1 is more common in northern European Jews, Gaucher is pan-ethnic and affects individuals in every country and ethnicity.
Gaucher disease can be definitively diagnosed by a simple blood test. Multiple treatment options exist for the symptoms of type 1 Gaucher disease, but to date there are no approved treatments in the United States that cross the blood-brain-barrier and treat the neuronopathic symptoms of types 2 and 3 Gaucher disease. New treatment options for Gaucher disease are in development which are anticipated to treat the neurological manifestations. The Gaucher Community Alliance provides education and support for persons and families affected by all types of Gaucher disease.
If you would like more in-depth descriptions of Gaucher disease provided by the National Institutes of Health (NIH), please refer to the expert websites here: