People with this disease do not produce enough of an enzyme called glucocerebrosidase, which breaks down glucocerebroside, a fatty substance found in cells. Without sufficient enzyme, the fatty substance builds up in some cells and enlarges them. These enlarged cells are called Gaucher cells.
Over time, Gaucher cells collect in the liver, spleen, lungs, and bone marrow, damaging them until they can’t work the way they should. The bone-related damage can be especially painful and may eventually limit a person’s mobility. In rare cases, Gaucher cells can also collect in the brain and result in a more severe form of the disease.
Different Forms of the Disease
There are three different types of Gaucher disease.
Type 1 Gaucher disease is the most common form in the Western world and accounts for more than 90% of cases. The signs and symptoms of Type 1 can begin at any age, and usually include anemia, bruising, bleeding, abdominal pain (caused by an increase in spleen and liver size), bone pain, and growth problems. People with Type 1 Gaucher disease can often expect to have a normal life span. It occurs worldwide in all populations, but is most prevalent in the Ashkenazi Jewish population
Type 2 Gaucher disease is characterized by abnormalities of the central nervous system and is usually fatal during the first two to four years of life. It affects people worldwide, but is very rare
Type 3 Gaucher disease is very rare in the West, but more common in Asia and the Norrbotten region of Sweden. In this type of Gaucher disease, the neurologic symptoms progress slowly. Symptoms usually develop in childhood and continue through adulthood
Treatment can help with some of the non-neurologic symptoms of the disease, especially for people who receive a diagnosis and begin treatment early.