Cardiac Amyloid Clinic
The Summa Health Cardiac Amyloid Clinic focuses on amyloidosis, a rare and potentially life-threatening disease that occurs when toxic proteins build-up in the body’s tissues and organs. These proteins misfold into amyloid fibrils and accumulate within various organs and tissues of the body, which alters their normal functions. Diagnosing amyloidosis can be challenging because there are a variety of types which can affect different organs. The most common organs affected are the heart, kidneys, liver, nervous system, and gastrointestinal tract.
What Are Types of Amyloidosis?
There are several types of amyloidosis. Two of the most common types are light chain (AL) amyloidosis and transthyretin (ATTR) amyloidosis.
- AL Amyloidosis
In AL, excess bone marrow plasma cells secrete the protein that forms amyloid. These bone marrow plasma cells are similar to those in multiple myeloma, a cancer of plasma cells. The most common organs affected in AL are the heart, kidneys and nervous system. Light chain amyloidosis can also affect the stomach, large intestine, liver, nerves and skin.
Treatments for patients with AL amyloidosis include various medications. Most patients take one or two chemotherapy drugs plus steroid medication. The medications work together to destroy the plasma cells that make the light chain proteins. A doctor who specializes in blood disorders (hematologist) will create a treatment plan for you.
- ATTR Amyloidosis
Transthyretin, also called TTR, is a protein made by the liver that helps carry thyroid hormone and vitamin A in the blood. In ATTR amyloidosis, the protein becomes unstable, breaks apart, and deposits in the heart and/or the nerves. ATTR arises either from a mutation in the transthyretin gene (ATTR-mutated) or from normal transthyretin (ATTR-wild type). The mutated form may be passed down in families and is more common in certain ethnic groups, including African-Americans, among others. The wild type cannot be passed on to family members.
There are currently medications approved by the Food and Drug Administration to treat patients with ATTR amyloidosis.
Signs and Symptoms of Amyloidosis
You may not experience signs and symptoms of amyloidosis until the condition is advanced. When signs and symptoms are evident, they depend on which of your organs are affected.
- Swelling of your ankles and legs
- Severe fatigue and weakness
- Shortness of breath with minimal exertion
- Unable to lie flat in bed due to shortness of breath
- Numbness, tingling or pain in your hands or feet, especially pain in your wrist (carpal tunnel syndrome)
- Diarrhea, possibly with blood, or constipation
- Unintentional weight loss
- An enlarged tongue, which sometimes looks rippled around its edge
- Skin changes, such as thickening or easy bruising, and purplish patches around the eyes
- An irregular heartbeat
- Difficulty swallowing
Summa Health providers who specialize in the treatment and management of amyloidosis work together as a team to provide the highest level of patient care. Depending on the symptoms and type of amyloidosis, there will be different specialty doctors involved. The initial evaluation will be done by one of our amyloid specialists in cardiology or cancer care, with possible additional involvement of specialists in neurology, nephrology, hematology/oncology, and primary care.
Summa multidisciplinary approach allows our specialists to develop an individualized treatment plan for each of our patients.
- Cardiology: Heart failure management, echocardiography, cardiac MRI, endomyocardial biopsy, arrhythmia management
- Hematology-Oncology: Chemotherapy, bone marrow biopsy
- Nephrology: Nephrotic syndrome management, renal biopsy
- Neurology: Peripheral neuropathy evaluation and management
- Pulmonology, Rheumatology specialists are also available for consultation
The Summa Health Cardiac Amyloid Clinic team is led by: