What is Gaucher disease?
Gaucher (pronounced go-SHAY) disease is a rare, inherited condition. And it’s most common among people of Ashkenazi Jewish heritage.
Among the general population, Gaucher disease occurs in roughly 1 in 50,000 to 1 in 100,000 people. In people of Ashkenazi Jewish heritage, it occurs in roughly 1 in 600 people.
But what is it exactly? It’s a lysosomal storage disorder that is inherited from a person’s parents. Lysosomes are parts of a cell that make enzymes. And when someone has a lysosomal storage disorder, like Gaucher disease, the cells that make a certain enzyme don’t work as they’re supposed to.
In a person with Gaucher disease, cells do not produce enough of an enzyme called glucocerebrosidase (pronounced GLOO-ko-SER-e-bro-sy-daze). This enzyme is needed to break down a fatty substance called glucocerebroside (pronounced GLOO-ko-SER-e-bro-side). Without enough of this enzyme, the fatty substance builds up in some cells. These cells are called Gaucher cells.
Over time, Gaucher cells collect in various organs, causing the signs and symptoms of Gaucher disease.
Type 1 Gaucher disease
Type 1 is the most common form of Gaucher disease. It accounts for more than 90% of all cases. It is the only type of Gaucher disease that is considered ”nonneuronopathic,” meaning it does not involve the central nervous system like rarer forms of the disease.
Common symptoms of Type 1 Gaucher disease include:
- increased spleen size
- low hemoglobin level (anemia)
- increased liver size
- low platelet count