What is Gaucher's disease? L.H.

Gaucher's disease is a very rare genetic disease in which the body lacks an enzyme needed to break down certain waste substances within cells. As a result, these byproducts tend to build up in various organs, impairing their function.

Gaucher's disease affects the digestive system because a certain waste substance (called glucosylceramide) accumulates in the liver and spleen. Over many years, this build-up leads to scarring and cirrhosis in the liver. Other complications may include bleeding from abnormal blood vessels in the esophagus, accumulation of excess fluid in the abdomen and extremities, and mental changes because of the liver's inability to detoxify substances. In addition, the spleen may expand to a very large size, ultimately resulting in rupture and severe intraabdominal bleeding.

Gaucher's disease also commonly involves the skeletal system, leading to bone deformities and a predisposition to fractures. Over the last 10 years much has been learned about Gaucher's. Using genetic engineering, it is now possible to produce the missing enzyme in the lab. When this lab-produced enzyme is given to patients with Gaucher's, it can lead to improvement. Unfortunately, this enzyme-replacement therapy is extremely expensive. Patients with Gaucher's should definitely be treated and followed by a doctor who has a great deal of experience in the management of this very rare and potentially fatal disease.