Amyloidosis refers to a group of diseases caused by deposits of abnormal proteins, known as amyloid, in one or more organs of the body. Deposition of amyloid in the heart is known as cardiac amyloidosis or amyloid heart disease. When this occurs, the heart becomes stiff, causing fluid build-up in the lungs that leads to breathlessness and fluid buildup in soft tissues, which, in turn, leads to leg and abdominal swelling.
The Brigham and Women’s Hospital (BWH) and Dana-Farber Cardiac Amyloidosis Program is a unique service that focuses exclusively on this elusive and deadly condition. Our Program was established to fill a significant void in the diagnosis and treatment of systemic amyloidosis, acquire a better understanding of cardiac amyloidosis, specifically, and improve care for patients who have the disease.
An international referral site, the Amyloidosis program is part of the BWH Heart & Vascular Center and is located within the state-of-the-art Shapiro Cardiovascular Center.
Although the root cause of amyloidosis is unknown, there are several risk factors, including:
The first symptom to appear depends upon the organ or organs involved. The following are some of the more common indications of cardiac amyloidosis. These symptoms are common to many forms of heart disease. The diagnosis of amyloidosis as their root cause relies on a careful patient history and physical examination, combined with the results of specialized cardiac tests. Patients with cardiac amyloidosis may have these symptoms:
Before a patient comes for their first appointment, we ask that they provide us with a detailed medical history. This will help us to care for them more efficiently.
During the evaluation appointment, every patient will have:
Some patients will have:
For patients with suspected AL amyloidosis which affects the bone marrow:
A biopsy is required for diagnosis. A skin biopsy is the first step with blood tests to look for an excess of light chains in the blood. A bone marrow biopsy may also be obtained, usually from the hip bone to examine the marrow inside the bone to look for abnormal cells that are producing the abnormal protein in AL amyloidosis. Depending on these results, a heart, kidney or liver biopsy may be needed. Other diagnostic and evaluation services include:
View a series of short echocardiography video clips that reveal typical features of cardiac amyloidosis.
Treatment for each patient will vary according to the type of amyloidosis they have, how far the disease has progressed, and the presence of any underlying conditions.
For patients with light-chain associated (AL) amyloidosis
It is critical to stop the production of the abnormal light chains because, by doing so, progression of the disease can be stopped and some degree of improvement in damaged organs will often occur.
The treatment of the abnormal production of light chains by plasma cells has progressed considerably over the last 10 years.
Although amyloidosis is not a cancer, chemotherapy or chemotherapy -like drugs are used to destroy the abnormal plasma cells. A common combination is a chemotherapy agent called cyclophosphamide, with a therapy called bortezomib (Velcade) that specifically targets the plasma cells, and with a steroid known as dexamethasone. This therapy, which is given once weekly as tablets and injections under the skin is often referred to as “CyBorD”.
Recently, an antibody-therapy that is highly effective has been approved for the treatment of amyloidosis, and this is known as daratumumab. Daratumumab may be incorporated with CyBorD from the beginning of therapy or may be added a month or two later. Therapy is usually given once weekly and is generally well-tolerated. Details of the therapy and its anticipated side effects will be given to you by the amyloid hematologist specialist. In general, the specific therapy targeted against the light chains lasts for 6 to 12 months, but some patients may get ongoing maintenance therapy, usually in the form of pills after this.Treatment for transthyretin-related amyloidosis (ATTR)
The Cardiac Amyloidosis Program provides patient care coordination with non-cardiac specialists for co-existing conditions such as pulmonary hypertension, peripheral and autonomic neuropathy and renal and gastroenterological disorders.
Treatment for Complications of Amyloid Heart Disease
Research and Clinical Trials
Brigham and Women’s Hospital is the site of new discoveries and ongoing research in cardiac amyloidosis, including the use of new medications and highly sensitive echocardiographic techniques for distinguishing cardiac amyloidosis from other heart diseases. Learn more about our research and clinical trials.
The Heart & Vascular Center is located in the Shapiro Cardiovascular Center, across the street from BWH's main 75 Francis Street entrance. The Heart & Vascular Center brings together the full range of services in one location, fostering seamless and coordinated care for all cardiovascular patients.
The day of surgery, you care will be provided by surgeons, anesthesiologists and nurses who specialize in surgery for patients with amyloidosis. After surgery, you will go to the post-surgical care unit where you will receive comprehensive care by an experienced surgical and nursing staff.
During your surgery, family and friends can wait in the Shapiro Family Center. Staff members will provide surgery updates and caregivers who leave the hospital will be contacted by cell phone.
Led by Rodney H. Falk, MD, widely recognized as a cardiac amyloidosis expert, our team includes specialists in cardiovascular medicine, cardiac pathology, cardiac imaging, cardiac surgery, gastroenterology, hematology, nephrology, neurology and cardiac research – all Harvard Medical School faculty with extensive experience in cardiac amyloidosis. We work closely with patients and referring physicians, providing the highest standard of medical and supportive care, combined with cutting-edge research and clinical trials.
Learn more about BWH research and clinical trials in cardiac amyloidosis.
Learn more about amyloidosis and other causes of cardiomyopathy in our health library.
Visit the Kessler Health Education Library in the Bretholtz Center where patients and families can access computers and knowledgeable staff.
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