Gaucher disease is a lysosomal storage disorder (LSD) that occurs in about 1 of every 40,000 births. It is a genetic disorder that causes fat heavy Gaucher cells to build up in certain areas of the body like the liver, spleen, and bone marrow.
Normally, an enzyme breaks down these fatty substances. For people with Gaucher disease, the enzyme doesn’t work as it should. Over time, this causes the affected organs to bloat, swell, and malfunction.
If Gaucher disease runs in your family, or you’re of Ashkenazi Jewish descent and are thinking about having a baby, carrier screening can determine your risk of passing the condition to your offspring. Carrier screening is a type of genetic test used to determine if you’re a carrier of a specific genetic abnormality. By determining your risk, you can better make informed decisions for your family.
If you aren’t sure if you can benefit from carrier screening, talk with your primary care physician or OB/GYN. They can refer you to a genetic counselor who can order carrier screening and explain your results in-depth.
Gaucher disease is an autosomal recessive disorder. This means that for a person to have the disease, they must receive an abnormal gene from both of their parents.
The genes that cause Gaucher’s disease exist in pairs. If you receive a healthy gene from one parent and an abnormal gene from the other, you’re a carrier of Gaucher disease. Genetic carriers can pass on Gaucher disease to their offspring, but don’t necessarily experience symptoms themselves.
Gaucher disease affects people of all genders and races. However, the condition is most common in people of Eastern and Central European Jewish (Ashkenazi) descent. In fact, research shows that as many as 1 in 10 Ashkenazi jews carries the mutated gene that causes Gaucher’s disease.
The symptoms of Gaucher disease vary greatly from person to person. Some people experience mild or no symptoms, others experience symptoms that are severe. Overall, individuals with Gaucher disease experience three primary issues:
Yes. There are several types of Gaucher disease, including:
If your baby is at risk of Gaucher disease, your genetic counselor can make recommendations for treatment. Oftentimes, early intervention can prevent irreversible damage, help control symptoms, and improve your child’s quality of life.