Simplifying Therapy for Gaucher DiseaseDiplomat Specialty Infusion Group supports patients throughout treatment.
Gaucher disease is an inherited disorder caused by low or absent levels of an enzyme called glucocerebrosidase (GCase). Without enough of this enzyme, the body is unable to break down certain fats (lipids) in the body, called glucocerebroside. This results in a toxic buildup of these fats in various organ systems (such as the spleen, liver, or bone marrow), impairing their ability to function normally.
Gaucher disease can affect anyone, occurring in up to 1 in 40,000 people. Gaucher disease is the most common genetic disorder among Jewish people of Ashkenazi (Eastern European) descent, occurring in approximately 1 in 450 within this population. The signs and symptoms of this condition vary widely among affected individuals.
For drug information, click here.
Prescriber? Find enrollment forms here.
What causes Gaucher disease?
Gaucher disease is a genetic condition — people inherit it from their parents. To have the condition, a child must get two copies of the altered Gaucher gene (GBA) — one from each parent. If they only get the altered gene from one parent, they can be a carrier of Gaucher disease without having any symptoms themselves.
You can’t catch Gaucher disease from someone, and you don’t get it from foods you eat or substances in your environment.
What are the types of Gaucher disease and their symptoms?
Researchers have described several types of Gaucher disease based on their characteristic features.
Type 1 Gaucher disease is the most common form of this condition, representing about 95 percent of patients in Western countries. Type 1 is also called non-neuronopathic Gaucher disease because the brain and spinal cord (the central nervous system) are usually not affected. The features of this condition range from mild to severe and may appear anytime from childhood to adulthood.
The major signs and symptoms of type 1 Gaucher disease include enlargement of the liver and spleen; a low number of red blood cells (anemia); easy bruising caused by a decrease in blood platelets; lung disease; and bone abnormalities such as bone pain, fractures, and arthritis.
Types 2 and 3 Gaucher disease are known as neuronopathic forms of the disorder because they affect the central nervous system. In addition to the signs and symptoms of Type 1, Gaucher types 2 and 3 can cause abnormal eye movements, seizures, and brain damage. Type 2 Gaucher disease usually causes life-threatening medical problems beginning in infancy. Type 3 Gaucher disease also affects the nervous system, but it tends to worsen more slowly than type 2.
The most severe type of Gaucher disease is called the perinatal lethal form. This condition causes severe or life-threatening complications starting before birth or in infancy. As its name indicates, most infants with the perinatal lethal form of Gaucher disease survive for only a few days after birth.
Features of the perinatal lethal form of Gaucher disease can include extensive swelling caused by fluid accumulation before birth; dry, scaly skin or other skin abnormalities; enlargement of the liver and spleen; distinctive facial features; and serious neurological problems.
Another form of Gaucher disease is known as the cardiovascular type because it primarily affects the heart.
The cardiovascular type of Gaucher disease causes the heart valves to harden, leading to high blood pressure. It also affects the central nervous system and can lead to difficulties with eye movement, balance, walking, and thinking.
How does Diplomat help people with Gaucher disease?
FDA-approved treatments for type 1 Gaucher disease include multiple brands of enzyme replacement therapy (ERT) and substrate reduction therapy (SRT). ERT works by replacing the body’s missing or deficient GCase enzyme. SRT works by blocking the body’s production of the fatty chemical, glucocerebroside.
ERT is given by intravenous infusion — put directly into a vein – typically once every two weeks. SRT is taken orally, typically one to three times daily.
Doctors may recommend other treatments and supportive care depending on symptoms, including pain management drugs, surgery for damaged joints, blood transfusions for anemia, or spleen removal.
Diplomat Specialty Infusion Group provides enzyme replacement therapy for treatment of Gaucher disease. We can help coordinate in-home nursing services as well.
What resources are available for people with Gaucher disease?
Your physical and emotional well-being are important during treatment. We go beyond 24/7 clinical care, connecting you with external organizations that offer support for your condition.
Remember: The information here — and on linked sites — is not meant to replace advice, care, or a diagnosis from your physician. If you have questions about your condition, please ask your provider.
The information contained herein may not be construed as medical advice. It is for educational purposes only. Diplomat Pharmacy Inc. takes no responsibility for the accuracy or validity of the information contained herein, nor the claims or statements of any manufacturer.
How can Diplomat help me?We’ll answer your questions about Diplomat Specialty Infusion Group.
TALK WITH US
Upcoming TreatmentsWe keep you informed about new specialty medications.
Diplomat actively monitors specialty medications in the government's review and approval process. You can search our database to see if there will be new treatment options for your condition you can discuss with your doctor.
ResourcesDiplomat connects you with the support you need. We do much more than just fill your prescriptions. Diplomat Specialty Infusion Group provides a number of resources to support you throughout treatment.
Financial AssistanceWe’ll look for ways to help you afford therapy.
There are many ways to get help paying for specialty medications. We'll seek third-party programs and support the application process from start to finish.