How Is Gaucher Disease Treated?
Gaucher (go-SHAY) disease is a rare, inherited genetic disorder. While Gaucher disease is rare, it is one of the most common of what are called lysosomal storage disorders. These are disorders in which the body does not make certain enzymes as it should.1-3
People with Gaucher disease do not make enough of the enzyme glucocerebrosidase (GCase). Without this enzyme, Gaucher fat cells build up in the spleen, liver, and bone marrow.2,3
Gaucher disease is caused by a change (mutation) in the GBA gene. Both parents have to carry and pass on the mutation for their baby to develop Gaucher disease. About 6,000 people in the United States are living with the condition.1-3
Types of Gaucher disease
There are 3 types of Gaucher disease, and types 1 and 3 are treatable:1-4
Type 1 (non-neuropathic) is the most common form. It causes the liver and spleen to get bigger, and causes bone pain, fractures, and fatigue. Easy bruising is common. It rarely can also cause lung and kidney problems. People with a mild form of type 1 may not show any symptoms. It can occur at any age. Almost all cases in western countries are this type.
Type 2 (acute infantile neuropathic Gaucher disease) is rare and causes severe, irreversible brain damage quickly. Seizures, poor ability to suck or swallow, and muscle spasms are common, along with enlarged liver and spleen. It is usually fatal in the first 2 years of life and is not treatable.
Type 3 (chronic neuropathic Gaucher disease) is rare in the United States and Europe but is the most common form globally. It causes the liver and spleen to get bigger. Brain issues develop and include seizures, eye movement disorders, poor coordination, and problems thinking and learning. It can also lead to bone issues, breathing problems, and blood disorders. It usually starts in childhood or the teen years. Its severity is somewhere between types 1 and 2 and may result in a shorter life.
Symptoms vary widely from person to person. Some have few symptoms and some have serious complications.2
Treatments for Gaucher disease
There is no cure for Gaucher disease but there are treatments for symptoms of type 1 and the non-neurological symptoms of type 3. Treatments include enzyme replacement therapy and substrate reduction therapy. These treatments help create the proper amount of a fatty chemical in the body, glucocerebroside.1,4
Enzyme replacement therapies (ERTs) make up for the low levels of Gcase enzyme in the body, allowing fat to be processed (metabolized) better. These treatments include:4
- Imiglucerase (Cerezyme®)
- Velaglucerase alfa (Vpriv®)
- Taliglucerase alfa (Elelyso®)
Studies show ERTs help with anemia, low platelet counts, enlarged spleen and liver, and bone issues in type 1. Enzyme replacement may also improve these symptoms for people with types 2 and 3. However, it does not reverse the brain and nerve damage.2
Substrate reduction therapies (SRTs) work differently from ERTs. SRTs partly block the body from making glucocerebroside, the fatty chemical that builds up in people with Gaucher disease. These drugs include:5,6
- Eliglustat (Cerdelga®)
- Miglustat (Zavesca®)
SRTs are not to be used in children and teenagers, people who are pregnant or breastfeeding, many people 65 and older, and people with severe kidney or liver disease.6
Other treatments your doctor may recommend include bone marrow transplant and removal of part or all of the spleen.3
There is no treatment for the brain damage caused by Gaucher disease types 2 and 3.3
Symptom management of Gaucher disease
People with Gaucher disease may need other treatments to manage the symptoms and complications of the condition. These may include:5
- Blood transfusions for severe anemia and bleeding
- Prescriptions for bone pain and osteoporosis (weak or brittle bones)
- Joint replacement surgery for painful, damaged joints
Treatment goals usually focus on improving quality of life and preventing serious complications. Treatment focuses on allowing people with Gaucher disease to go about their daily lives without fatigue, joint pain, shortness of breath, or the dangers of osteoporosis. In children, the goal is often for them to grow to their normal height and to start puberty at a healthy time. Treatment plans are specific to each person.2
Research into future treatments
Experts are trying to understand Gaucher disease and other fat storage conditions better. The hope is that biological signals will point scientists in the direction of new and better management of the disease. They are also studying a protein that builds up in Gaucher disease, Parkinson's disease, and Lewy body dementia.3