Description: Gaucher disease Type 1 is the most prevalent Jewish genetic disease, occurring in one in every 1,000 Ashkenazi Jews. Gaucher Type 1 disease is an inherited disorder in which the body cannot break down a lipid called glucocerebroside.
Symptoms: Symptoms range from mild to severe and can appear at any time, from infancy to old age. Gaucher symptons may include anemia, fatigue, easy bruising and a tendency to bleed. An enlarged spleen and liver may also occur in Gaucher disease as well as bone pain, degeneration and fractures. Bone disease may lead to neurologic problems such as compression of the spinal cord. Brown spots at the edges of the cornea (the front surface of the eye) are also a feature of type 1 Gaucher disease.
Cause: Gaucher Type 1 disease is inherited in an autosomal recessive pattern, which means two copies of the gene must be altered for a person to be affected by the disorder. Mutation of the GBA gene leads to deficiency of an enzyme, glucocerebrosidase, which is needed to break down a lipid called glucocerebroside. This fatty substance then accumulates in "Gaucher cells" which are found particularly in the liver, spleen, and bone marrow. Damage in these organs cause the symptoms of the disease.
Treatment: Enzyme replacement therapy has recently been shown to safely and effectively reverse most of the clinical manifestations in people affected by Gaucher Type 1 disease. It is important to begin treatment before there is significant organ or bone damage.
Disease Frequency: This disease is seen in 1 in 50,000 to 100,000 people in the general population. Type 1 Gaucher disease is more common in people of Ashkenazi (eastern and central European) Jewish heritage than those with other backgrounds. The disorder affects in 1 in 500 to 1,000 people of Ashkenazi Jewish heritage.
Carrier Frequency: The carrier rate for the mutations which cause Gaucher Disease may be as high as 1 in 14 Jewish people of Eastern European ancestry, and 1 in 500 of the general population.
Diagnosis: Gaucher Disease can be detected through a simple blood test. The testing process can be done at a hospital, Gaucher specialist’s office, or through your family physician. Your physician can draw blood that would then be sent to a specific laboratory for DNA based diagnosis testing.
Screening: Carrier status can be detected through a simple blood test.
History: In 1882, a French physician named Philippe Charles Ernest Gaucher (pronounced: go-SHAY) first described a clinical syndrome in a 32-year-old woman whose liver and spleen were enlarged.
Future: The future offers much promise for Gauchers patients and their families.
Currently, enzyme replacement therapy has replaced the bone marrow transplantations as the preferred method of treatment. The enzyme is regularly, frequently and chronically infused into the bloodstream intravenously at significant expense.
Future treatments might include replacement therapy with manufactured longer-acting enzymes that could be given by injection into the fat layer of the skin instead of into the veins. Another future possibility is gene transfer therapy, whereby the immune cells of a patient are removed and corrected in the laboratory into cells with normal functioning enzyme-producing genes, are transplanted back into the patient.
Currently, enzyme replacement therapy has replaced the bone marrow transplantations as the preferred method of treatment. The enzyme is regularly, frequently and chronically infused into the bloodstream intravenously at significant expense.
Future treatments might include replacement therapy with manufactured longer-acting enzymes that could be given by injection into the fat layer of the skin instead of into the veins. Another future possibility is gene transfer therapy, whereby the immune cells of a patient are removed and corrected in the laboratory into cells with normal functioning enzyme-producing genes, are transplanted back into the patient.