Know that you are not alone if you or a loved one has been diagnosed with Gaucher disease (pronounced go-SHAY). In the general population, Gaucher disease affects up to 1 in every 40,000 live births.
What Is Gaucher Disease and How Does It Affect You?
Gaucher disease is a hereditary illness characterized by the accumulation of fat-laden Gaucher cells in organs such as the spleen, liver, and bone marrow. If both parents are carriers of Gaucher Disease, a child will develop the disease. It’s a lysosomal storage disorder that affects a lot of people.
What Causes It?
Low levels of glucocerebrosidase (GCase), an enzyme that breaks down a fatty molecule called glucocerebroside in the body, cause Gaucher disease. Gaucher cells are macrophages, which are normally scavenger cells that get overburdened with unprocessed glucocerebroside. Gaucher cells build up in the spleen, liver, and bone marrow, causing inflammation and dysfunction in the organs.
Gaucher Disease Prevalence:
Gaucher disease can affect anyone, with 1 in every 40,000 live births in the general population being affected.
Gaucher disease is more common among Jews of Ashkenazi (Eastern European) heritage, with 1 in 450 people suffering from it. One in ten people may have the defective gene that causes Gaucher disease. To learn more about lysosomal storage diseases, go here (LSDs).
What Is a Carrier of Gaucher Disease?
If you have Gaucher disease, you have a single gene mutation that causes the ailment. You must have two mutations in the GCase gene, one from your mother and one from your father, to develop the disease. Learn more about Gaucher disease genetics and heredity, as well as which mutations are the most dangerous.
When both parents are carriers, the baby has a one-in-four chance of being born with the disease. There are no indications or symptoms in people who are Gaucher disease carriers.