MUSC Health Amyloidosis Center of Excellence

Amyloidosis is an uncommon condition that results from a buildup of an abnormal protein called amyloid. Amyloid is produced in your bone marrow and can be deposited in any tissue or organ. When the proteins build up on your heart, they can cause arrhythmia or heart failure.

Recognizing and treating amyloidosis requires specific expertise. At MUSC Health’s Cardiac Amyloidosis Clinic, experts from many specialties meet to discuss your case and develop your personalized treatment plan.

What Is Cardiac Amyloidosis?

There are several types of amyloidosis, differentiated by which protein causes the deposits. Identifying amyloidosis can be challenging because the symptoms aren’t always specific. Signs include bruising easily, swollen legs and shortness of breath. Your doctor diagnoses amyloidosis with a biopsy (taking a sample of cells).

Cardiac amyloidosis causes heart problems that can lead to heart failure. With amyloidosis, heart failure usually occurs because the heart weakens and enlarges (cardiomyopathy). An older term, familial amyloid cardiomyopathy, refers to the fact that some types of amyloidosis are passed in the genes from parent to child.

Two main types of amyloidosis affect the heart

  • AL amyloidosis: With this most common amyloidosis, plasma cells in the bone marrow create amyloid protein. The proteins form chains that fold into sheets that can deposit in body tissues, such as the heart. AL amyloidosis is also called immunoglobulin light chain amyloidosis.
  • Transthyretin (TTR) amyloidosis: Transthyretin is a protein made in the liver. When the body makes too much transthyretin, it can form deposits (plaques) in organs including the heart. TTR can be genetic (inherited from your parents). MUSC Health offers several clinical trials of new therapies for TTR amyloidosis.

Why Choose MUSC Health for Cardiac Amyloidosis Care?

At MUSC Health, you’ll find:

  • Specialized expertise: You need doctors who know which treatments work. Ours is the only center in the Southeast with expertise in treating complex multisystem disorders like cardiac amyloidosis and sarcoidosis.
  • Support and collaboration: Amyloidosis affects your health in many ways. Our approach is to offer collaborative care from experts in multiple specialties, as you need it. Our team is pursuing national accreditations from amyloid associations to validate our comprehensive approach. We host an amyloidosis support group to provide community, connection and education.
  • Unparalleled innovation: Our team works on several ongoing clinical studies of new treatments for amyloidosis. We are pursuing several efforts to advance therapies for TTR. See our clinical trials.
  • Heart and Brain Program: MUSC Health doctors are researching the relationship between amyloid plaques in the heart and on the brain. These types of plaques cause dementias like Alzheimer’s disease. Our team is leading a global effort to understand the link between dementia and heart disease.
  • Organ transplant leaders: We offer South Carolina’s only transplant program, which may provide an option for people with some amyloid disorders. We have performed heart transplants for people with inherited TTR amyloidosis and advanced heart failure. Read more about our Transplant Center.

Cardiac Amyloidosis Treatment at MUSC Health

Amyloidosis creates particular care needs. For instance, some medications for heart failure don’t work well or are counterproductive for people with cardiac amyloidosis.

At MUSC Health, your doctors address these issues thoughtfully. Your options may include:

  • Genetic testing: Genetic testing is an important part of understanding your type of cardiac amyloidosis and your family’s risks. MUSC Health’s cardiovascular geneticists provide testing and genetic counseling. Learn more about cardiovascular genetics.
  • Heart care: Because amyloidosis affects the heart, your doctors will create an individualized treatment plan for your unique conditions and symptoms. Our goal is to minimize the effects of heart damage as much as possible through arrhythmia treatments and heart failure treatments.
  • Chemotherapy: For people with AL amyloidosis, chemotherapy may slow its spread through your body. Chemotherapy can reduce or stop amyloid buildup.
  • Transplant: Some people with amyloidosis may be eligible for an organ transplant. For those people who have AL amyloidosis and plaques only in the heart, heart transplant may be an option. Liver transplant may be possible for people with inherited TTR. MUSC Health, South Carolina’s only transplant center, offers excellent outcomes.

Other Care Team Members

Hannia Ramos, M.D.
Program Coordinator

Amanda Fowler, FNP
Nurse Practitioner

Blaithin McMahon, M.D.
Nephrologist

Additional Resources

MUSC Amyloidosis Support Group
Stay tuned for our first local support group meeting in mid Fall 2020.

Amyloidosis Support Group
Join the amyloidosis support group to be part of the nationwide community.

My Amyloidosis Pathfinder
Our MUSC Amyloidosis Center has teamed up with ARC to simplify patient-provider visits and communication with our amyloidosis team for treatment plans and goals tailored to your needs.

Look for our MUSC facility to sign up and use the feature of My Appointment Companion with your next appointment visit.

Donations
Donations can be made to the Amyloidosis Center at MUSC.