Gaucher's Disease

Gaucher’s (pronounced go-SHAYS) Disease or Gaucher Disease is a genetic disorder characterized by swollen belly, fragile bones, bone pain, fatigue, anemia, bruising problems, and bleeding problems. Other symptoms may include liver malfunction, neurological complications, swelling of lymph nodes, susceptibility to infection, and yellow fatty deposits on the white of the eye. This is caused by not having enough of an enzyme called glucocerebrosidase which breaks down fatty chemicals called glucocerebrosides. These fatty cells then build up in the liver, spleen, kidneys, brain, lungs, and bone marrow. Gaucher disease is most common among Jews of Eastern European descent; as many as one out of ten are genetic carriers. It is named after Philippe Gaucher, the French physician who first described the disease in 1882.

There are three types of Gaucher Disease.

* Type 1 is treatable, and it is the most common in western countries; 95% of the patients have this type. The symptoms include bone problems, fatigue, and enlargement of the liver and spleen. * Type 2 is untreatable due to the severe brain damage; it is often fatal within the first two years. * Type 3 is rare in western countries, but it is the most common form in the world. Its symptoms are usually a combination of those in Type 1 and 2. Those who are affected usually have a limited lifespan though some, with appropriate treatment, can live into their 50s. The common treatments include enzyme replacement therapy and substrate reduction therapy.