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GAUCHER (pronounced "go-SHAY") disease is
an inherited illness caused by a
gene mutation. Normally, this gene is responsible for an enzyme called
glucocerebrosidase that the body needs to break down a particular kind of fat
called glucocerebroside. In people with Gaucher disease, the body is not able to
properly produce this enzyme and the fat cannot be broken down. It then
accumulates, mostly in the liver, spleen and bone marrow. Gaucher disease
can result in pain, fatigue, jaundice, bone damage, anemia and even death.
Gaucher disease is considerably more common in the descendants of Jewish
people from eastern Europe (Ashkenazi), although individuals from any ethnic
group may be affected. Among the Ashkenazi Jewish population, Gaucher
disease is the most common genetic disorder, with an incidence of
approximately 1 in 450 persons. In the general public, Gaucher disease affects
approximately 1 in 100,000 persons. According to the National Gaucher
Foundation, 2,500 Americans suffer from Gaucher disease.
In 1991, enzyme replacement therapy became available as the first effective
treatment for Gaucher disease. The treatment consists of a modified form of
the glucocerebrosidase enzyme given intravenously. Performed on an
outpatient basis, the treatment takes about 1-2 hours and is given every 2
weeks. Enzyme replacement therapy can stop and often reverse the symptoms
of Gaucher disease, allowing patients to enjoy a better quality of life.