Do I Have Gaucher Disease?

Do you have a family history of Gaucher disease?

Have any children in your extended family died before the age of 2 years?

Do you have swollen abdomen?

Do you feel pain in your abdomen or bones?

Do you have a diagnosis of anemia (a low number of red blood cells)?

Do you have severe fatigue?

Do you bruise easily?

Do you often have nosebleeds?

Do you have weakened bones that can break easily?

Do you have abnormal eye movements, muscle rigidity, swallowing difficulties and seizures?

Based on your answers it is unlikely that you have Gaucher disease. Gaucher disease is an inherited disorder characterized by the insufficient level of an enzyme called glucocerebrosidase, which leads to the accumulation of harmful amounts of certain fats throughout the body, especially in the bone marrow, spleen and liver. The organs in which these harmful substances accumulate cannot function properly, and the liver and spleen usually become enlarged. In order for a child to inherit this disorder, both parents must carry the mutated (Gaucher) gene. Gaucher disease is rare and affects up to 1 in 40,000 people in the general population.

Based on your answers there is a possibility that you have Gaucher disease. Gaucher disease is a rare genetic disorder. People with Gaucher disease have an insufficient amount of an enzyme called glucocerebrosidase, which leads to the formation of so-called Gaucher cells. Gaucher cells which are filled with fats (lipids) accumulate in various organs in the body, interfering with their functioning. There are three different types of Gaucher disease. Gaucher disease type 1 is the most common type of the disease. The symptoms include liver, spleen and bone problems, but the brain development is normal. Gaucher disease type 2 and 3 involves severe brain abnormalities.

Based on your answers there is a high possibility that you have Gaucher disease. Gaucher disease is an inherited disorder also known as lipid storage disease. Lipids are fatty substances. People with Gaucher disease do not produce an adequate amount of enzymes needed to break down lipids or do not have enzymes that work properly, which leads to the accumulation of lipids in the brain and other organs. A diagnosis is based on a physical examination, blood and imaging tests and genetic analysis. There is no cure for Gaucher disease. The treatment goal is to control symptoms. It involves enzyme replacement therapy (ERT), oral medications and surgery.