What is it?
Gaucher disease is a rare disease that results in the accumulation of a fatty substance in parts of the body. People with the most common type of Gaucher disease, type 1, may have enlarged livers and spleens, bone disease, and bleeding issues. Type 2 Gaucher disease also involves progressive neurologic disease and is usually fatal in early childhood. Children with type 3 Gaucher disease have disease that is intermediate in severity between types 1 and 2.
Gene and enzyme function:
Mutations in the GBA gene cause Gaucher disease. The GBA gene normally instructs the body to make beta-glucocerebrosidase, an enzyme that breaks down a fatty substance known as glucocerebroside. In people with type 1 Gaucher disease, there is buildup of glucocerebroside in the liver, spleen, and bone marrow. People with type 2 and 3 Gaucher also have glucocerebroside buildup in the brain.
More information about symptoms:
People with type 1 Gaucher disease can show symptoms anytime from childhood to adulthood. Symptoms can range from mild to severe and include enlarged liver and spleen, anemia, easy bruising, and bone problems including fractures and pain. People with type 2 or 3 Gaucher disease have additional disease in the brain. Symptoms include abnormal eye movements, seizures, and muscle problems. Type 2 is more severe and presents in infancy, while type 3 presents in childhood and tends to progress more slowly. Unfortunately, most babies with type 2 Gaucher disease die between 1-3 years of age. The very severe, perinatal lethal form causes life-threatening complications before birth, and infants may survive for only a few days. People with the rare cardiovascular form primarily have disease in the heart but may also have eye abnormalities, bone problems, and an enlarged spleen. People with this form may survive into adulthood.
How common is Gaucher disease?
Gaucher disease is a rare disorder, estimated to affect 1:50,000 – 100,000 individuals. Type 1 Gaucher disease is more common in individuals of Ashkenazi Jewish origin.
How is Gaucher disease inherited?
Gaucher disease is inherited in an autosomal recessive inheritance pattern.
Is there treatment?
This information is current as of November 2020. Decisions about if, when, and how to manage this condition should always be made in conjunction with your health care provider.
Treatment
There are FDA-approved enzyme replacement therapies and substrate reduction therapies for people with type 1 Gaucher disease. Unfortunately, there are no approved treatments for the brain manifestations of types 2 and 3 Gaucher disease.
Click HERE for more information Gaucher disease treatment
Clinical trials:
Click HERE to see clinical trials studying investigational treatments for Gaucher disease. Therapies being studied include gene therapy and substrate reduction therapy.
Additional Information and Support
Source
Genetics Home Reference (GHR) and MedlinePlus
