Gaucher disease type 1 (pronounced go-SHAY) is the most prevalent form of the disease in western countries, making up about 95 percent of cases there. While it can affect anyone, Gaucher disease type 1 is also the most common Jewish genetic disorder. It is likely that approximately 1 in 450 people of Ashkenazi Jewish descent have some form of the disease.
If you or a family member has Gaucher disease type 1, know that there is an entire community here to support you. Effective treatment is available, and working with a Gaucher specialist can help you live a full and active life.
Gaucher Disease Type 1 Symptoms
Patients with Gaucher disease don’t have enough glucocerebrosidase (GCase), an enzyme that breaks down a fatty chemical in the body called glucocerebroside.
When glucocerebroside builds up in the organs and bone marrow, it causes signs and symptoms such as:
- Spleen and liver enlargement: Cells with excess glucocerebroside, called Gaucher cells, often accumulate in a patient’s spleen and/or liver. This process enlarges the organs, which can cause a painful, swollen belly and interfere with eating a complete meal.
- Low blood counts: Gaucher cells that accumulate in bone marrow and spleen make it hard for the body to produce blood cells normally and maintain normal blood counts. As a result, patients with Gaucher disease may have low red blood cell counts (anemia) that can cause fatigue and shortness of breath. They also typically have low platelet counts that can cause easy bruising and bleeding problems.
- Bleeding problems: Low platelet counts prevent normal blood clotting processes. Patients may experience frequent nosebleeds, gum bleeding, prolonged bleeding after dental work or other surgery. Sometimes, patients can have more serious gastrointestinal, urinary, gynecologic and brain bleeding issues, and bleeding after delivering a baby is common.
- Bone problems: Patients with Gaucher disease often have bone pain, which can be severe. Their bones may also break more easily, and without treatment, damage to bones can be permanent.
If you have any of these symptoms or family history of Gaucher disease, it’s important to get tested. Find out more about testing for Gaucher disease and the symptoms of Gaucher disease.
Gaucher Disease Type 1 Prognosis
Because enzyme deficiency varies from person to person, the symptoms can also be different. With treatment and proactive management, however, you can live well into old age with excellent quality of life.
The most important thing is to see a Gaucher specialist regularly since most general practitioners have no experience with Gaucher disease. With proper treatment and management, you can lower your risk of developing permanent damage. Learn about Gaucher disease and associated conditions.
Gaucher Disease Type 1 Treatment
Treatment for Gaucher disease is critical for minimizing symptoms and lasting damage to your body. Gaucher disease treatment includes enzyme replacement therapy (ERT) and substrate reduction therapy (SRT).
A Gaucher specialist can ensure that you get optimal treatment while proactively monitoring your condition and symptoms. Locate a specialist with our Gaucher disease treatment finder, and find out more about optimizing your health with Gaucher disease.
Enzyme replacement therapy (ERT)
Enzyme replacement therapy (ERT) balances low levels of GCase enzyme in patients with Gaucher disease so their bodies can break down glucocerebroside.
ERT requires intravenous (IV) enzyme infusions, typically every 2 weeks or so. You can receive ERT at an infusion center, or in the comfort of your own 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 oral medications that decrease the amount of glucocerebroside that the body makes, reducing excess buildup. Some patients find it more convenient than receiving ERT infusions. Learn more about substrate reduction therapy (oral medication) for Gaucher disease.