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Diagnosing and Treating Cardiac Amyloidosis

Diagnostic Services

An accurate, early diagnosis offers you the best chance to manage amyloidosis and stop it from progressing into a serious and/or fatal condition. Understanding what symptoms and risks factors serve as early indicators for cardiac amyloidosis will help patients and physicians know when to seek advanced medical care. Common symptoms of cardiac amyloidosis include:

  • Chest pain
  • Fatigue
  • Heart palpitations
  • Swelling of the extremities
  • Abdominal swelling
  • Dizziness

If you are experiencing any of these symptoms, contact your physician for further examination. If it is suspected you might have amyloidosis, cardiology experts at the University of Chicago Medicine will perform test to verify your diagnosis and, from there, will work with you to decide on a treatment plan. Our diagnostic services include:

  • Magnet Resonance Imaging (MRI) is used to obtain detailed pictures of the beating heart, allowing physicians to determine if there is any damage to the heart muscle.
  • Echocardiogram is a noninvasive test that provides physicians with three-dimensional information about your heart's structure, movement and blood flow.
  • Right Heart Catheterization is a procedure performed in the cardiac catheterization lab that enables physicians to measure the pressure and output of the heart in order to tailor medications to the patient's exact needs
  • Cardiac Biopsies are performed using catheterization to obtain samples of heart tissue for further examination and analysis. This is a minimally invasive procedure in which our skilled cardiologists guide a thin tube through a vein (typically in your neck or groin) into your heart and a small tool on the catheter is used to collect tissue to be tested it for signs of amyloid.

Genetic Testing for Early Management

For patients who are diagnosed with hereditary TTR amyloidosis, University of Chicago Medicine offers free genetic testing for the patient's entire family in order to identify any additional members who may have cardiac amyloidosis. During genetic testing, we collect a sample of blood from each family member for evaluation in order to identify any mutations in the DNA that could cause amyloidosis.

As many as 60 percent of those with a family history of amyloidosis will suffer form the condition. By proactively testing the family, our specialist hope to identify undiagnosed individuals and begin treatment while long-term management is still a viable option.

Treating Cardiac Amyloidosis

Treatment options for this disease vary greatly depending on the type and severity of your amyloidosis. Our multidisciplinary team of experts will work with you to determine the best treatment strategy that manages your health and preserves your quality of life.

AL (Primary) Amyloidosis Treatment

Since AL amyloidosis originates in the bone marrow, first-line treatments consist of chemotherapy and stem cell transplantation.

Chemotherapy
Chemotherapy is performed by our expert oncology team and is used to destroy plasma cells that have been infected and prevent the overproduction of the protein that causes amyloidosis. For AL amyloidosis, we offer both oral and intravenous chemotherapy. Our oncology team will explain the various forms of chemotherapy available for your condition and together you will select the right solution.

Bone Marrow/Stem Cell Transplant
Some patients with AL amyloidosis may be candidates for a stem cell transplant. Receiving donor marrow from someone who is not affected by amyloidosis can prevent production of amyloid proteins and offer long-term management for the condition. As the birthplace of stem cell transplantation, the University of Chicago Medicine has the expertise you can trust if your physicians recommend this treatment.

TTR (Hereditary) Amyloidosis Treatment

For patients who have been diagnosed with TTR amyloidosis, newer drug therapies are being developed to help manage this condition and prevent the cell mutation that causes the condition. Currently, however, transplantation is still the preferred treatment for the best chance to reverse a patient's failing health and enable him/her to live a full, active life.

Heart Transplant
Since amyloidosis is not reversible, the ideal treatment for patients who have advanced cardiac amyloidosis is heart transplantation. Cardiac surgeons at the University of Chicago Medicine have over 30 years experience in heart transplantation and provide unparalleled skill and expertise to patients requiring surgery.

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