Type 1 Gaucher disease (pronounced go-SHAY) is a progressive, genetic disorder that causes many different symptoms. A person with Gaucher disease can't produce enough of an essential enzyme called glucocerebrosidase (pronounced GLOO-ko-SER-e-bro-sy-daze), which breaks down a fatty substance called glucocerebroside.
Without this enzyme, the fatty substance is not broken down, but instead builds up in the cells. These swollen cells are called Gaucher cells. Over time, as Gaucher cells build up in the bone marrow and organs, they cause increasing damage, possibly including bone pain, skeletal damage, enlarged liver and spleen, low red blood cell count, and low platelet count. However, if the disease is recognized early, treatment can begin, potentially preventing irreversible damage. Type 1 Gaucher disease affects approximately 1 in 45,000-60,000 people in the general population. It is more common among Ashkenazi Jews, affecting 1 in 850. Signs and symptoms may appear at any age.
Inheriting Gaucher Disease
Every person’s body contains tens of thousands of genes that help guide growth and development. Genes determine traits such as eye color and height. We all inherit two copies of every gene, one from each parent. One of these genes controls the production of the enzyme glucocerebrosidase.
A person develops Type 1 Gaucher disease if he or she inherits two defective copies of this gene (one from each parent). If a person only inherits one defective copy, he or she will not develop Type 1 Gaucher disease, but is considered a “carrier.” A carrier can pass the defective gene to his or her children. With each pregnancy, each carrier has a 50% chance of passing on the defective gene. If both parents are carriers, there is a 25% chance their child will inherit two defective copies and will develop Type 1 Gaucher disease.
It is treated with an enzyme that is administered intravenously every 2 weeks and replaces the enzyme that is deficient.