Five things to know about cardiac amyloidosis
Cardiac amyloidosis is not an easy disease to recognize.
“Patients on average see up to five providers before this is even diagnosed,” said Valmiki Maharaj, MD, an M Health Fairview cardiologist and assistant professor with the University of Minnesota Medical School. The complexity of the disease and the challenge of identifying it are two reasons why Maharaj, a heart failure expert, is driven to help people with cardiac amyloidosis.
We asked Maharaj to tell us five things we should know about cardiac amyloidosis, including its causes, symptoms, possible treatments, and how M Health Fairview can help.
Cardiac amyloidosis happens when proteins build up in the heart.
Cardiac amyloidosis is a heart condition that occurs when abnormal proteins collect in and around the heart. As they build up over time, these proteins can damage the heart and cause congestive heart failure – which is when your heart struggles to pump enough blood out to your body. The proteins can also weaken or disrupt your heart’s electrical system, causing it to beat out of rhythm. This is called an arrhythmia.
Common symptoms of cardiac amyloidosis include shortness of breath, fluid buildup and swelling of the legs or abdomen, and fatigue. You may also feel heart palpitations, lightheadedness, and dizziness.
Amyloidosis can affect just the heart, or it can affect other parts of the body.
The abnormal proteins that cause cardiac amyloidosis often affect other organs and systems in the body, including the kidneys, liver, nerves, and musculoskeletal system. Maharaj describes amyloidosis as a systemic disease with wide-ranging effects, including numbness and paresthesia (a tingling or pins-and-needles feeling), joint and back pain, and gastrointestinal symptoms similar to irritable bowel syndrome. Carpal tunnel syndrome caused by ligament compression from amyloid proteins building up in the wrist is a frequent complaint people with amyloidosis may have for years prior to the appearance of any heart problems.
The heart and nervous system are among the most affected organs. But the symptoms vary widely based on the type of abnormal protein that forms and where it collects in the body. There are more than 30 different proteins in the body that can cause amyloidosis, but typically only two are known to affect the heart: light chain (AL) amyloidosis and Transthyretin (ATTR) amyloidosis.
Early diagnosis is key.
The range of different problems – and the fact that many of the symptoms associated with amyloidosis can also be caused by other medical issues – contribute to the difficulty diagnosing the disease. But early diagnosis is key to prevent the disease from worsening as more and more amyloid proteins build up in the body and heart.
Amyloidosis can be inherited, or passed along from parents to children, but it can also develop for other reasons, including age and as a result of cancer or another disease. Amyloidosis appears to affect more men than women. Cardiac amyloidosis is more common in older adults ages 60 to 80, but if it is inherited the disease can occur in people as young as their 40s or 50s, Maharaj said.
If a doctor suspects cardiac amyloidosis, diagnosis typically involves blood and urine tests, and various heart scans such as an ultrasound, MRI, or nuclear heart scan to find the proteins and then detect whether they have built up in the heart muscle. A biopsy may also be needed if initial testing is inconclusive.
“Even though it’s a progressive disease, with early diagnosis and treatment we can temper the progression,” Maharaj said. “We can slow things down. People affected by it can still have good quantity and quality of life.”
Medication is often the first option for treatment.
Treatment for amyloidosis depends on which type of the disease a person has, their precise symptoms, and the parts of the body most affected by the disease.
For Transthyretin (ATTR) amyloidosis, treatment often starts with an FDA-approved medication called Tafamidis, which can prevent protein deposits from forming in the heart. “While currently this is the only approved treatment for amyloid heart disease, other amyloid-specific treatments are being studied worldwide, and I expect more options for patients and providers in the very near future,” Maharaj said.
While the medication can slow the pace of cardiac amyloidosis, a patient may still need other treatments or procedures to address heart failure or arrhythmia, such as a pacemaker, ablation, or even a heart transplant if heart failure is severe. For light chain (AL) amyloidosis, treatment may include chemotherapy, immunotherapy, or even a stem cell transplant. Other treatments or medications may be needed if other parts of the body are affected.
Because amyloidosis can damage so many different organs and systems, your care team may include several specialists, from cardiologists like Maharaj to neurologists, kidney specialists, and even orthopedic surgeons or gastroenterologists.
M Health Fairview offers comprehensive care for amyloidosis.
Maharaj is one member of a multi-disciplinary team of experts and specialists who, together, can provide seamless and comprehensive care for people with all types of amyloidosis. Maharaj sees many of his patients at the M Health Fairview Clinics and Surgery Center – Minneapolis, a one-stop center where amyloidosis patients can meet with several different doctors – all in a single day if needed.
“I work very closely with all of the other specialties needed, so that patients don’t get bounced around to different doctors or locations,” Maharaj said.
Through our partnership with the University of Minnesota, M Health Fairview is also able to offer innovative therapies or procedures, including clinical trials, that may not be available anywhere else.
