What is Gaucher Disease?

Gaucher Disease is an inherited lysosomal storage disorder, meaning that it is related to an enzyme deficiency in the body which causes the accumulation of harmful materials, because the body lacks the enzyme to break these materials down. In the instance of Gaucher Disease, the relevant enzyme is glucocerebrosidase. This disease affects around one in every 50,000-100,000 people, and it tends to strike Eastern Europeans, especially Ashkenazi Jews, more than others. Generally, an incidence of Gaucher Disease in your family can suggest that you are a carrier.

This disease is named for Philippe Gaucher, a French physician who first described its symptoms in the 1800s.You may also see it called Gaucher's Disease. Using genetic testing, people can often identify whether or not they have a copy of the damaged gene which causes the condition. Genetic testing may be used on people in families with a history of Gaucher Disease, or on people who exhibit the joint pain, swollen organs, soreness, yellowish skin, and blood conditions associated with it.

This genetic disorder is an autosomal recessive, meaning that the genetic error occurs along a chromosome which is not linked with gender, and you must inherit the faulty gene from both parents. If both parents have the disease, a child has a 100% chance of inheriting, because both parents have two genes, meaning that they must pass one on. In the event that one parent has Gaucher disease and the other doesn't, the child will become a carrier, unless the non-Gaucher parent is also a carrier, in which case there is also a chance that the child will get the disease.

In patients with Gaucher Disease, the lack of the glucocerebrosidase enzyme causes a fatty material to accumulate in some organs and the bone marrow, and sometimes in the nervous system as well. The spleen, liver, and kidneys are especially at risk, and these organs may become painfully swollen. Joint swelling and lymph swelling are common complications of Gaucher Disease, along with neurological problems, anemia, and other blood conditions. Sometimes the complications are severe enough to cause death in addition to pain and discomfort.

There are three types of Gaucher Disease, with Type II being the most severe, while Type I is the most mild. Types I and III can be treated with enzyme therapy and various measures to treat the symptoms, such as splenectomy to remove the swollen and painful spleen. Type II Gaucher Disease generally appears in infants, and it is fatal by age two; treatment in these cases is focused on keeping the patient as comfortable as possible.