Gaucher disease
Gaucher disease - pronounced GO SHEY disease - is an inherited genetic disorder in which a person has a deficiency of the enzyme glucocerebrosidase.1-3 This enzyme is responsible for breaking down a fatty substance, glucocerebroside, in the body.2,3
Without sufficient glucocerebrosidase, fatty substances accumulate within the lysosomes of cells, leading to the formation of ‘Gaucher cells’. Over time, these Gaucher cells infiltrate various organs, including the spleen, liver, and bone marrow, resulting in progressive and heterogeneous disease.2,4
Gaucher disease encompasses a wide spectrum of clinical manifestations,5 which can be divided into three major clinical subtypes according to the presence or absence of neurologic involvement, the rate of disease progression, and degree of severity.6-8
Learn moreWatch the below video to hear two Gaucher specialists discuss the importance of understanding and diagnosing Gaucher disease.
Type 1 Gaucher disease is the most common form of the disease, accounting for >90% of all Gaucher patients.9 Symptoms include enlargement of the liver and/or spleen, bone involvement, and fatigue. Neurological development is normal in type 1 patients. Once diagnosed, there are various management and treatment options.2
Learn moreType 2 Gaucher disease is very rare. It has a very early onset and typically has severe neurologic involvement. Most patients only survive for up to two years.2,10
Type 3 Gaucher disease manifests with the same symptoms as type 1 Gaucher disease but has some neurological involvement.2,10
This website focuses on type 1 Gaucher disease.
