The Ohio State University Wexner Medical Center’s Fabry Disease Clinic in Columbus, Ohio, is one of a select few locations in the region offering dedicated care to patients who have Fabry disease. Since Fabry disease affects many organs in the body, our expert nephrologists, geneticists, cardiologists and other physicians work together to provide whole-person care.

What is Fabry disease?

Fabry disease is a rare genetic disorder that results in the absence of an enzyme that breaks down fats, carbohydrates, proteins and other substances. When your body can’t break down these substances, it can lead to complications with the heart, kidneys, skin, eyes, ears, brain and other organs, as well as cause pain.

Fabry disease is caused by a genetic mutation, and most patients have a parent or other close relative who also has Fabry disease.

Fabry disease is a lifelong glomerular disease, and 50% of patients who have Fabry disease will develop kidney disease. If not treated, kidney disease can progress to end-stage kidney failure. The sooner patients start receiving treatment for kidney disease, the better the outcome.

The goal of the Fabry Disease Clinic is to slow the progression of kidney disease while collaborating with other specialists to manage common related symptoms of Fabry disease. You’ll be seen at the clinic every six to 12 months, depending on your needs.

Fabry disease diagnosis

Since the majority of people who have Fabry disease also have a parent who has the disorder, most people receive a Fabry disease diagnosis through genetic testing. When you come to the Fabry Disease Clinic, you’ll have an initial appointment to determine organ involvement. At this appointment, your doctor may order the following tests:

  • Genetic testing – Your doctor will collect a blood sample and have it tested for the genetic mutation that causes Fabry disease.
  • Enzyme activity test – Your doctor will collect a blood sample and have it tested for the presence of proteins that are regulated by enzymes. If protein levels are abnormal, it can point to the lack of a certain enzyme.
  • Urinalysis – Your doctor will collect a urine sample and have it tested for protein levels. If protein levels are abnormal, it can point to kidney disease.
  • Kidney biopsy – Your doctor will use a long needle to extract a sample of kidney tissue that will be evaluated under a microscope. This precise examination allows doctors to see kidney damage at a cellular level and know exactly how your kidneys are being affected by Fabry disease.

Doctors at the Ohio State Wexner Medical Center’s Fabry Disease Clinic meet weekly to discuss each patient and develop individualized treatment plans.

Fabry disease treatment

Fabry disease is a lifelong condition, and treatment focuses on slowing the progression of kidney disease along with managing other disease-related complications such as pain. Treatments offered at the Ohio State Wexner Medical Center’s Fabry Disease Clinic include:

Enzyme replacement therapy

Your team of doctors can prescribe enzyme replacement therapy, which delivers enzymes to your body every two weeks through an infusion. You can receive enzyme infusions at the clinic or in your home.

Medication

The Ohio State University Wexner Medical Center offers the latest medications to manage Fabry disease, including Chapelron, which increases enzyme activity. Other medications to address complications from additional organs involved can also be part of a treatment plan. These include medication to manage blood pressure and pain and prevent stroke.

Lifestyle modifications

Your team of doctors may recommend changes in your diet and habits that can help improve kidney and heart function. These include eating a low-sodium diet, participating in regular physical activity, and avoiding harmful substances like tobacco and alcohol.

Counseling and education

Your doctors will provide you with the latest knowledge on Fabry disease and suggestions on how to manage your disease. They’ll counsel you on how to share this information with your family so your relatives can be tested for Fabry disease and receive treatment if needed. They’ll also guide you if you plan to start a family.

Referrals to other specialists

Since Fabry disease affects multiple organs, you may need to see other specialists. These include:

  • Ophthalmologist (eye doctor), when vision is affected
  • Ear, nose and throat specialist, when hearing is affected
  • Cardiologist (heart doctor) for lung and heart involvement
  • Neurologist (brain doctor), when the brain or nerves are affected
  • Pain management doctor for chronic pain

Your nephrologist (kidney doctor) will collaborate with these specialists to create a coordinated care plan.

Clinical trials

At any point in time, the Ohio State Wexner Medical Center has 10 to 20 active clinical trials focused on innovative treatments for glomerular diseases that are rare or ultra-rare, including Fabry disease. These trials allow patients to receive the latest and most advanced medications and treatments.

You’ll have bloodwork, urinalysis and other tests, including imaging, done at clinic appointments to monitor disease progression and modify treatments as needed.

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