Type 1 Gaucher Disease

Overview

Type 1 Gaucher disease is an inherited condition in which the body lacks enough of an enzyme called glucocerebrosidase. Without it, a fatty substance builds up in cells of the spleen, liver and bone marrow. It is more common in people of Ashkenazi Jewish ancestry, and its severity varies widely.

Common Signs and Symptoms

• An enlarged spleen or liver, sometimes with belly swelling
• Tiredness from anemia
• Easy bruising or bleeding from low platelets
• Bone pain, fractures or sudden bone pain crises
• Slow growth in children

When to Contact a Provider

Ask your provider about evaluation for an unexplained enlarged spleen, low platelet counts or bone pain. Enzyme and genetic tests can confirm the diagnosis.

How Treatment May Help

Enzyme replacement therapy (ERT) supplies the missing enzyme. It may help shrink the spleen and liver, improve blood counts and ease bone problems. For some adults, an oral medicine called substrate reduction therapy is another option.

Therapies That May Be Available at Infuse Care

• Cerezyme (imiglucerase): IV infusion, usually every two weeks; dose is set for each patient

Safety and Monitoring

Infusion reactions, such as itching, flushing or hives, can occur, and serious allergic reactions are rare. You are monitored during each infusion, and regular blood tests and bone checks help track your response.

Your prescribing provider decides which treatment is right for you. Infuse Care administers prescribed therapies after a referral, a clinical review and any required insurance authorization, and we keep your provider's office updated on your care.