Myths about Gaucher disease, and facts you need to know
Last updated July 3, 2025, Roslyn Marano
Fact-checked by Ines Martins, PhD
Gaucher disease is a confusing condition, even for doctors. It’s often difficult to diagnose, both because it’s rare, and because symptoms vary widely and overlap with more common conditions.
Misinformation about Gaucher can add to your stress. But knowing what’s true and what are Gaucher disease myths can help you feel more in control of your health and more confident when trying to get answers.
Gaucher disease only affects young children
You can be diagnosed with Gaucher at any age. While many people experience its symptoms, such as fatigue, bone pain, or an enlarged spleen, in childhood, others don’t notice signs until adulthood.
Gaucher is caused by a gene mutation, which means that everyone who is diagnosed with the disease was born with it, no matter when symptoms start.
For instance, if you have type 1 Gaucher — the most common form — you may only have mild symptoms or not even be aware of them until later in life.
If you suspect you may have Gaucher, speak to your doctor. It’s never too late to get care.
The sooner you are diagnosed and start treatment, the better chance you have of preventing complications.
Only Ashkenazi Jewish people get Gaucher disease
Gaucher disease is more common among Ashkenazi Jews (people of Central and Eastern European Jewish descent), but it can affect anyone.
Ashkenazi Jews have an increased risk of inheriting Gaucher — about 1 in 450 are affected worldwide. The overall global rate is approximately 1 in 40,000 to 70,000.
Gaucher is an inherited condition. You need to have two mutated copies of the GBA1 gene — one from each parent — which can happen in any ethnic group. Worldwide, Gaucher has been diagnosed from Europe and Asia to Latin America.
Gaucher disease can’t be treated
Gaucher disease is treatable.
Enzyme replacement therapy, known as ERT, is given regularly as infusions to replace a missing enzyme. (The mutation in the GBA1 gene causes the enzyme deficiency.)
ERT can reduce symptoms such as anemia, bone damage, and organ enlargement. In some cases, oral substrate reduction therapy is also an option.
While there is no cure, Gaucher disease is usually manageable, especially when treated early. Treatments can significantly improve your quality of life and help prevent or delay disease progression.
Gaucher disease is always severe or life-limiting
The severity of Gaucher disease symptoms varies widely. With treatment, some people have mild symptoms and live long, healthy lives — especially with type 1.
Types 2 and 3 are more serious because of neurological symptoms, which are not well-managed by existing medications.
People with Gaucher disease can’t have kids
Many women with Gaucher have successful pregnancies, though the right medical management is important. The condition doesn’t usually cause infertility.
Doctors may recommend treatment adjustments during pregnancy to protect both the mother and baby.
Your doctor may also recommend genetic counseling to help you understand the risk of passing Gaucher disease to your children.
If both parents are carriers of the GBA1 gene mutation, there’s a 25% chance that your child or children will inherit the condition.
Did you know? 5 facts about Gaucher
- Gaucher disease is named for Philippe Gaucher, a French physician who first described the condition in 1882.
- Gaucher is the most common type of lysosomal storage disorder, a group of rare genetic diseases caused by enzyme deficiencies.
- Gaucher is inherited when both parents carry the gene mutation, an inheritance pattern known as autosomal recessive.
- There are three types of Gaucher disease. Type 1 is the most common and does not cause neurological symptoms. Type 2 appears in infancy and is marked by severe neurological symptoms. Type 3 involves milder neurological problems that progress more slowly.
- ERT has been used since 1991 to treat Gaucher disease.
Living with Gaucher disease can feel overwhelming, but knowing what you need to do — including having the right care, support, and treatment — can help make a difference in your quality of life.
Gaucher Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.
