Gaucher Disease

What causes Gaucher disease?
Gaucher disease is a rare genetic condition that results in reduced activity of an enzyme in the body called acid beta-glucosidase. The function of this enzyme is to break down a fatty substance called glucocerebroside into a sugar (glucose), which is present as a building block in all cells of the body, and a simpler fat (ceramide). Therefore, in Gaucher disease, the fatty material (beta-glucosidase) collects in the cells of the body called macrophages; these cells are now called Gaucher cells. As time goes by, cells become overloaded with the fat and are injured resulting in damage to tissues and organs throughout the body; this build-up causes the characteristic features of Gaucher disease.

What are the symptoms?
Several types of Gaucher disease have been described based on their signs and symptoms. The most common form, type 1 Gaucher disease, ranges from a very mild (essentially no symptoms) to severe disease, which can begin any time from childhood to adulthood. Over time, people with Gaucher disease may develop an enlarged liver and/or spleen, low bone density or bone/joint pain, and blood problems including a tendency to bleed and anemia. Children may have delayed growth. The brain and spinal cord (central nervous system; CNS) are not typically affected in this type.

Patients with type 2 Gaucher disease have severe, progressive brain involvement that can include abnormal eye movement and brain damage, in addition to the liver, spleen, and bone symptoms in type 1. Patients with type 3 Gaucher disease also have involvement of the brain, but it is not as severe, and may progress slower than type 2.

Is there treatment?
Yes. There is FDA-approved treatment for Gaucher disease. Many patients with type 1 Gaucher disease receive enzyme replacement therapy (ERT), which replaces the missing glucocerebrosidase enzyme. ERT can decrease the size of the liver and spleen, stabilize or reverse bone disease, and improve blood counts. It is given by intravenous (IV) approximately every two weeks for life. There is no approved treatment for type 2 Gaucher disease.

What is the prognosis?
Patients with type 1 Gaucher disease who receive treatment have an excellent prognosis, especially if the treatment is started before they develop significant symptoms. Patients with type 3 disease may also do well with treatment. Patients with type two Gaucher disease typically die from the disease when they are infants.

How is it inherited?
It is an autosomal recessive disease. This means that the mother and father must both pass one abnormal copy of the gene to the child in order for the child to develop the disease.

For more information, see: Genetics Home Reference; MedlinePlus


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