Dr Philippe Gaucher (pronounced go-SHAY) first described the symptoms of the disease that carries his name more than 125 years ago. A great deal is now known about this chronic, progressive disorder that occurs in about 1 in every 20,000 live births.
Gaucher disease results from an enzyme deficiency in the body that causes the accumulation of lipids (fats) in organs and bones. As an autosomal-recessive disease, Gaucher is transmitted through a genetic mutation from both parents. Patients may have mild to severe symptoms, such as chronic fatigue, easy bruising and bleeding, and bone infarctions or fractures, which may first begin at any time from infancy to adulthood. Because Gaucher disease is rare, it is often misdiagnosed or not diagnosed. When left untreated, irreparable damage may occur, and so patients need to be diagnosed early with a simple blood test.
In the past, patients received supportive care for Gaucher disease, meaning that their symptoms were managed by pain reduction therapies, blood transfusions, orthopedic surgery for bones and joints, and splenectomy. Today, enzyme replacement therapy and substrate reduction therapy are available to treat the disease. Still, supportive care is an important aspect for patients to help ease symptoms and improve quality of life.
Centers have been created that specialize in the diagnosis and treatment of, and research into, Gaucher disease. These centers are staffed by physicians and other medical professionals who specialize in the disease, such as biochemists, geneticists, hematologists, and genetic counselors.
As part of National Gaucher Awareness Month, the National Gaucher Foundation has set up a virtual event on its Web site where visitors can play games, watch videos, view photos, and more. The first patient-centered national registry of Gaucher disease, now accessible through the Web site, allows families to submit their personal experiences with Gaucher disease.