Gaucher Disease By: Mihir Lovalekar
Gaucher Disease was first discovered by Phillippe Gaucher in 1882. He saw large cells in a extremely enlarged spleen. Glucocerebroside was discovered to affect Gaucher disease in 1934 by a French chemist named A. Aghion, and in the 1960's, Dr. Brady Roscoe found that people with Gaucher disease made the lipid normally but did not make enough of the enzyme glucocerebrosidase to break it down. In 1987, Dr. Shoji Tsuji found the first gene mutation that causes Gaucher disease.
Those who have Gaucher Disease usually have a swollen belly, spleen and liver enlargement, bleeding and bruising problems, bone pain, easily fractured bones, anemia and fatigue. Doctors use a blood test called a BGL test to check enzyme activity and diagnose Gaucher Disease. However, any patients undergo invasive bone marrow testing before receiving a diagnosis as doctors try to rule out leukemia and blood cancers. Gaucher Disease can be treated by two different therapies, enzyme replacement therapy (ERT) and substrate reduction therapy (SRT). In ERT, enzymes are added to balance the lysosomes, and less glucocerebroside is produced in SRT.
Gaucher Disease, when well managed, can allow for a healthy and active life. Although Gaucher Disease cannot be cured, treatment can prevent or improve signs and symptoms, also reducing the risk of irreversible tissue and organ damage. Recent advancements have shown promise to cure Gaucher, but no drug has been approved.
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The chart below shows how parents pass the Gaucher gene to their children. Gaucher Disease Inheritance and Genetics, National Gaucher Foundation, www.gaucherdisease.org/about-gaucher-disease/genetics/.
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