What Is Gaucher Disease?

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.

How Is Gaucher Disease Diagnosed?

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. 

How Is Gaucher Disease Inherited?

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.

Who Is At Risk Of Gaucher Disease?

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. 

What Are The Symptoms Of Gaucher 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:

• Abdominal problems caused by the liver or spleen swelling and becoming distended
• Skeletal abnormalities, including weak bones, painful fractures, and lack of blood supply
• Blood disorders, such as anemia, easy bruising, and frequent nosebleeds

Gaucher disease can also affect the brain. Though rare, this can result in abnormal eye movements, muscle rigidity, swallowing difficulties, or seizures.

Are There Different Types Of Gaucher Disease?

Yes. There are several types of Gaucher disease, including:

• Gaucher disease type 1. Gaucher disease type 1 is most common in western countries and accounts for about 95% of cases. Type 1 doesn’t affect brain function or development. However, it does cause spleen and liver enlargement, bone problems, and fatigue.  
• Gaucher disease type 2. Gaucher disease type 2 is incredibly rare and causes severe neurological abnormalities. Children with Gaucher disease type 2 typically die before reaching the age of two.
• Gaucher disease type 3. Gaucher disease type 3 is the most common type of Gaucher disease outside the United States and Europe. Symptoms of Gaucher disease type 3 include liver and spleen enlargement, bone problems, and neurological abnormalities. With early intervention and treatment, many people with type 3 Gaucher disease live into their 50s.

What Can I Do If I Learn My Baby Is At Risk Of Gaucher Disease?

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. 

You might also consider joining a support group like Expression of Hope, the Gaucher disease Facebook group, or the Lysosomal Disease Network.