If you or a loved one has been diagnosed with Gaucher disease (pronounced go-SHAY), know that you are not alone. Gaucher disease affects up to 1 in 40,000 live births in the general population.
What Is Gaucher Disease?
Gaucher disease is a genetic disorder where fat-laden Gaucher cells build up in areas like the spleen, liver and bone marrow. A person will get Gaucher Disease if both parents are carriers of the disease. It is one of the most common lysosomal storage disorders.
What Causes Gaucher Disease?
Gaucher disease is caused by low levels of glucocerebrosidase (GCase), an enzyme that breaks down a fatty chemical in the body called glucocerebroside. Gaucher cells are normal scavenger cells called macrophages that become full of unprocessed glucocerebroside. Gaucher cells accumulate primarily in the spleen, liver and bone marrow, causing organ inflammation and dysfunction.
Prevalence of Gaucher Disease
Gaucher disease can affect anyone, occurring in up to 1 in 40,000 live births in the general population.
Gaucher disease is more common among Jews of Ashkenazi (Eastern European) descent, occurring in approximately 1 in 450 within this population. As many as 1 in 10 may carry the mutated gene responsible for Gaucher disease. Find out more about lysosomal storage disorders (LSDs).
What Is a Gaucher Disease Carrier?
If you are a Gaucher disease carrier, it means you have just a single gene mutation associated with the disorder. To have the actual disease, you need to have two mutations in the GCase gene; one from your mother and one from your father. Find out more about Gaucher disease inheritance and genetics and which mutations are most severe.
When both parents are carriers, each pregnancy has a 1 in 4 chance that the baby will be born with the disease. People with Gaucher disease carrier status do not have signs or symptoms.
How does Gaucher Disease Affect the Body?
The effects Gaucher disease can have on the body can vary widely from person to person. Some people experience severe Gaucher disease symptoms, while others have none at all.
If you have Gaucher disease, your body may be affected as follows:
- Swollen belly due to spleen and liver enlargement
- Bone pain and easily fractured bones
- Anemia (low blood counts) and fatigue
- Bleeding and bruising problems
Types of Gaucher Disease
Scientists divide Gaucher disease into 3 different types based on the presence or absence of early-onset brain involvement, including:
- Gaucher disease type 1: Gaucher disease type 1 is the most common form of the disease in western countries, making up roughly 95 percent of patients there. Symptoms include spleen and liver enlargement, bone problems, and fatigue. Brain development is normal. Learn more about Gaucher disease type 1, which is treatable.
- Gaucher disease type 2: This type of Gaucher disease is rare and involves severe neurological (brain stem) abnormalities. It is usually fatal within the first 2 years, and it is currently untreatable because of the severe, irreversible brain damage.
- Gaucher disease type 3: This type of Gaucher disease is rare in the United States and Europe; however, it is the most common form of the disease worldwide. Gaucher disease type 3 has a severity between types 1 and 2, causing the same symptoms as type 1 plus some neurological involvement. While patients typically have a shortened lifespan, some can live into their 50s with treatment. Learn more about Gaucher disease types 2 and 3.
How Is Gaucher Disease Treated?
Gaucher disease type 1, the most common form of Gaucher disease in western countries, is treatable. The non-neurological symptoms associated with type 3, the most common form of the disease worldwide, are also treatable. For type 3 patients without severe or worsening brain involvement, Gaucher disease treatment can minimize signs and symptoms and improve overall health.
Available treatments include enzyme replacement therapy (ERT) and substrate reduction therapy (SRT). It is essential to work with a Gaucher specialist who can monitor your health and make adjustments to your medication as necessary.
Enzyme replacement therapy (ERT)
Enzyme replacement therapy (ERT) balances low levels of GCase in patients with Gaucher disease so their bodies can break down glucocerebroside. (This compensates for the missing enzyme, which is why the therapy is called enzyme replacement.) ERT involves receiving intravenous (IV) infusions about every 2 weeks, either at an infusion center or at home. Find out more about enzyme replacement therapy for Gaucher disease.
Substrate reduction therapy (SRT)
Substrate reduction therapy (SRT) is a newer treatment that works differently than ERT. SRT is an oral medication that decreases the amount of glucocerebroside that the body makes, reducing excess buildup. Learn more about substrate reduction therapy (oral medication) for Gaucher disease.