What Is Gaucher Disease?

If you or a loved one has been diagnosed with Gaucher disease (pronounced go-SHAY), know that you are not alone. Gaucher disease is one of the most common lysosomal storage disorders, affecting up to 1 in 40,000 live births in the general population.

Lysosomal storage disorders are inherited diseases that cause buildup of certain chemicals in the body due to a lack of enzymes to break them down.

What Is Gaucher Disease?

Gaucher disease results from not having enough glucocerebrosidase (GBA), an important enzyme that breaks down a fatty chemical called glucocerebroside. Because the body cannot break down this chemical, fat-laden Gaucher cells build up in areas like the spleen, liver and bone marrow.

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 GBA 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.

What Are the Signs and Symptoms of Gaucher Disease?

Signs of Gaucher disease type 1, the most common form in western countries, can vary widely from person to person. Some people experience severe symptoms, while others have none at all.

If you have Gaucher disease, you may have symptoms such as:

  • Swollen belly due to spleen and liver enlargement
  • Bone pain and easily fractured bones
  • Anemia (low blood counts) and fatigue
  • Bleeding and bruising problems

Find out more about the symptoms of Gaucher disease.

Types of Gaucher Disease

Scientists divide Gaucher disease into 3 different types based on 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 GBA 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.

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