Gaucher Disease

Gaucher disease is a rare genetic disorder when a person does not have enough of an enzyme, glucocerebrosidase, that breaks down the fat glucocerebroside. People who have the disease do not have enough glucocerebrosidase, so it builds up in the liver, the spleen, bone marrow, and nervous system, that prevents the body from functioning normally. Gaucher disease is an autosomal recessive disease, meaning it is inherited when both parents have the disease. It it caused by mutations in a single gene called GBA, which lead to low levels of glucocerebrosidase. So, someone who has Gaucher disease inherits a mutated copy of GBA from both of their parents. The disease happens in about 1 in 50,000 to 1 in 100,000 people in the general population. The people at highest risk for the disease are people of Ashkenazi Jewish ethnicity. There are three types of Gaucher disease- type 1, type 2, and type 3. Type 1 is the most common, and the effects are bone disease, anemia, and a bigger spleen. Type 2 happens to babies and can result in an early death. Type 3 can cause spleen, liver, and brain problems, and the life span is to adulthood. The signs and symptoms of the disorder are bone pain and fractures, cognitive impairment, easy bruising, a bigger spleen, a bigger liver, fatigue, heart problems, lung disease, seizures, severe swelling, and skin changes. Gaucher disease is diagnosed by a variety of tests- blood test, MRI, CT, X-ray of the skeleton, and genetic testing. Enzyme replacement therapy is available as treatment, and so is bone marrow transplants. Adults with type 1 disease usually live a normal life expectancy, but most diagnosed children die before the age of five.