Simplifying Therapy for Fabry DiseaseDiplomat Specialty Infusion Group combines clinical expertise with personal care.
Fabry disease is an inherited condition. It’s caused when an enzyme called alpha-galactosidase A (alpha-gal A) either doesn’t work or is missing. Without this enzyme, the body can’t break down a certain type of fat (or “lipid”) called globotriaosylceramide (GL-3 or GB-3). This results in a buildup of GL-3 in the body’s cells.
Fabry disease can affect both males and females. Females might have a wide range of symptoms or no symptoms at all. In some cases, women might be misdiagnosed with lupus or another condition. An estimated one in 40,000 people have Fabry disease.
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What causes Fabry disease?
Fabry disease is an inherited disorder caused by mutations in the GLA gene. This gene is found on the X-chromosome and provides instructions for making alpha-gal A. This enzyme is active in lysosomes, which are structures that serve as recycling centers within cells.
Alpha-gal A normally breaks down the fatty substance GL-3. However, mutations in the GLA gene prevent alpha-gal A from breaking down GL-3 effectively. As a result, GL-3 builds up in cells throughout the body. This happens particularly to cells lining blood vessels in the skin, as well as cells in the kidneys, heart, and nervous system. Over time, the buildup of GL-3 damages cells, leading to the varied signs and symptoms of Fabry disease.
What are the symptoms of Fabry disease?
Beginning in childhood, the buildup of GL-3 causes symptoms that can affect many parts of the body. These can include pain in the hands and feet, rashes on the skin, a decreased ability to sweat, cloudiness or streaks in the front part of the eye, gastrointestinal (GI) problems, ringing in the ears, and hearing loss.
If left untreated, Fabry disease can lead to life-threatening complications such as progressive kidney damage, heart attack, and stroke. Some people have milder forms of the disorder that appear later in life and affect only the heart or kidneys.
Diplomat Specialty Infusion Group provides medication and customized clinical support for patients with Fabry disease.
What are the different types of Fabry disease?
- Classic Fabry disease happens when there is no alpha-gal A activity. This form of the disease is severe and can affect systems throughout the body.
- Late-onset Fabry disease happens when the body’s alpha-gal A still works, but its activity is decreased. This form of the disease is usually detected later in life and is often milder, typically affecting only the heart and kidneys.
How does Diplomat help people with Fabry disease?
Diplomat Specialty Infusion Group provides home infusion therapy for treatment of Fabry disease. We can help coordinate in-home nursing services as well.
The treatment for Fabry disease is called enzyme replacement therapy, or ERT. This therapy is administered by intravenous infusion — put directly into a vein every 2 weeks.
Doctors might also prescribe medications to treat pain and gastrointestinal hyperactivity.
What resources are available for people with Fabry 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.
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