Gaucher disease

Doctors describe three main types. Type 1 is the most common and usually does not affect the brain and spinal cord; it can enlarge the liver and spleen, lower blood counts and harm bones. Type 2 causes life-threatening brain and nerve problems beginning in infancy. Type 3 also affects the nervous system but gets worse more slowly. There is also a very rare perinatal lethal form of type 2, which starts before birth or in early infancy. A cardiovascular form (type 3c) mainly hardens the heart valves. In France, about 95 in 100 people with Gaucher disease have type 1.

A donor stem cell transplant can replace the missing enzyme, but it is rarely used. GeneReviews says it may be an option for severe Gaucher disease, mainly type 3. French national guidance says it is not used for type 1, because medicines work well with fewer risks, and that it can be offered case by case for type 3. NMDP lists Gaucher disease, without naming a type, among the inherited metabolic disorders a donor transplant can treat. European transplant guidelines published in 2026 list Gaucher disease as a clinical option, decided person by person. For type 2, a small 2020 study found that treatments, including transplant in 3 children, did not change the brain disease.

Not everyone needs treatment right away; in France, a team of experts decides when to start. The main treatments are enzyme replacement therapy, given by vein every two weeks, and substrate reduction pills that lower the buildup. Eliglustat is a pill for type 1. The U.S. first approved it in 2014 for adults, and in 2025 the European Union approved it for some children aged 6 and older. Miglustat is used for adults with type 1 who cannot take the other treatments. Enzyme replacement helps the body problems of type 3 but not the brain disease, and it does not work for type 2.

MedlinePlus Genetics says Gaucher disease affects about 1 in 50,000 to 100,000 people. Type 1 is the most common form in Europe, Israel, Canada and the United States. It is more common in people of Ashkenazi Jewish heritage, affecting about 1 in 500 to 1,000. Types 2 and 3 are uncommon, but in some places, such as Egypt, India, Japan, Poland and Sweden, they can be more common than type 1.

Yes. It is autosomal recessive: a person has it when both copies of the GBA1 gene are changed. Parents usually each carry one changed copy and have no symptoms. When both parents are carriers, each child has a 1 in 4 chance of having Gaucher disease. Each child also has a 1 in 2 chance of being a carrier and a 1 in 4 chance of neither. Once the family’s gene changes are known, relatives can have carrier testing, and testing during or before pregnancy is possible.

It depends on the type. Type 2 is the most severe, and French guidance says it usually leads to death within the first 3 years of life. GeneReviews describes survival into the third or fourth decade (a person’s 20s or 30s) for type 3. Type 1 varies the most, from people who never have symptoms to severe disease in childhood. The outlook section on this page explains more. No description can predict one person’s course.

French national guidance lists some higher risks for people with Gaucher disease. They include Parkinson-type movement disorders and some blood cancers and related conditions, such as MGUS, myeloma and lymphoma, as well as some liver and kidney cancers. Nerve damage in the hands and feet (peripheral neuropathy) is also more common in type 1. Regular checkups are part of long-term care.