Cardiac amyloidosis

Cardiac amyloidosis occurs when abnormal proteins affect the heart’s ability to function normally. Because it is a rare condition with similar symptoms of many other heart conditions, amyloidosis is often underdiagnosed. 

Our experienced cardiologists know the signs to look for. We offer early diagnosis and proper treatment to manage cardiac amyloidosis and slow disease progression.

About cardiac amyloidosis

Amyloidosis is a rare condition that can affect the heart. It begins when abnormal amyloid proteins form in your liver or bone marrow. When they misfold, the proteins become insoluble fibers called amyloid fibrils that travel through the bloodstream. 

Your body cannot use these proteins, and it cannot absorb them or eliminate them as waste. As the fibrils travel through the bloodstream they attach to muscles or walls of different organs, including the heart, and interrupt normal function. 

Without treatment, the buildup of amyloid fibrils can lead to heart failure and other life-threatening conditions. 

Types and causes of cardiac amyloidosis

There are different types of amyloidosis. The two most likely to cause heart damage are: 

AL amyloidosis

AL amyloidosis is sometimes called “light chain amyloidosis” or “primary amyloidosis.” It is similar to bone marrow cancer and occurs when one type of cell inside the bone marrow over produces proteins. These proteins, called light chains, are extra pieces of antibody proteins that do not attach to immune cells as they should. These proteins can then deposit on the heart muscle and lead to cardiac dysfunction.

Early diagnosis is the best way to slow or stop amyloidosis progression. 

TTR amyloidosis

A second type of amyloidosis is transthyretin (TTR) amyloidosis. The liver makes TTR protein as part of its normal function. TTR amyloidosis occurs when these proteins misfold and then deposit on the heart muscle, leading to cardiac dysfunction. There are two different types of TTR amyloidosis: 

• Hereditary amyloidosis: This type of amyloidosis results from an inherited gene mutation that causes your TTR proteins to fold incorrectly. It can occur at any age.
• Wild-type amyloidosis: This type of amyloidosis occurs when nonmutated TTR proteins become unstable and fold incorrectly. It is most common in older patients.

Symptoms of cardiac amyloidosis

Most amyloidosis conditions develop slowly over time. A person may not experience amyloidosis signs and symptoms until the disease is more advanced. The symptoms are also similar to many other heart conditions, so it is often undiagnosed or underdiagnosed. 

The most common symptoms are: 

• Shortness of breath, even while resting or lying down
• Swelling in the legs, ankles and feet (edema)
• Irregular heartbeat or heart palpitations
• Severe fatigue or weakness

Since amyloidosis can affect other organs besides just the heart, some people experience symptoms such as: 

• Carpal tunnel syndrome or peripheral neuropathy
• Abnormal bleeding or bruising easily
• Enlarged tongue
• Gastrointestinal issues, such as bloating, diarrhea or constipation
• Problems swallowing
• Skin changes around the eyes

Diagnosing cardiac amyloidosis

Our cardiologists have experience screening and diagnosing cardiac amyloidosis. Getting the right diagnosis as early as possible helps our heart specialists prescribe the correct treatment. A proper diagnosis can lead to better long-term outcomes and a longer life span if caught early.

Cardiologists use several different tests to find out if you have amyloidosis. These include: 

• Blood or urine tests: These tests look for signs of light chains in your blood or urine. 
• Bone marrow tests: During this test, doctors remove some of the bone marrow to determine how many cells produce the abnormal protein. 
• Echocardiogram: These tests use ultrasound waves to look for extra amyloid protein building up in the heart muscle. A correct diagnosis requires an experienced cardiologist who knows what to look for on these diagnostic tests.
• Nuclear testing: A nuclear test called a technetium pyrophosphate (PYP) scan can be used to evaluate for amyloid deposition in the heart. Not all hospitals have the capability to perform this testing as it is primarily used for amyloid diagnosis.
• Cardiac MRI: An MRI of the heart can help identify the presence of amyloidosis in the heart. Cardiac MRI requires special protocols and cardiac imaging specialists to be done correctly. At Advocate, we have the ability to perform and interpret cardiac MRI to identify cardiac amyloidosis as well as several other cardiac conditions that may mimic cardiac amyloid.
• Genetic testing: For someone with a family history of TTR amyloidosis, we recommend genetic testing to look for the mutated gene. Genetic counselors discuss the results and help coordinate treatment with our cardiology specialists.
• Tissue biopsy: We may recommend a tissue biopsy of the heart or other organs, such as the liver or kidneys, to check for amyloid protein deposits.

Treating cardiac amyloidosis

The right amyloidosis heart treatment depends on the type of amyloidosis and the underlying cause. Each person is different and needs an individualized treatment plan for their unique type.

AL amyloidosis treatment

Since AL amyloidosis behaves like a bone marrow cancer, treatments are similar to cancer therapies and may include: 

• Chemotherapy: Drugs that destroy the damaged cells in the bone marrow that are creating abnormal proteins. Our cardiologists work with cancer specialists who have experience treating AL amyloidosis to choose the right chemotherapy medications and doses.
• Medication: We may use multiple myeloma (MM) treatments for AL amyloidosis. MM is a bone marrow cancer that acts like AL amyloidosis. 
• Stem cell transplant: This procedure takes healthy stem cells from bone marrow and puts them back in your body after chemotherapy destroys damaged cells.

TTR amyloidosis treatment

TTR amyloidosis requires a dual approach to treat the underlying cause and the symptoms. For example, someone with TTR amyloidosis may take drugs that slow or stop the production of TTR protein. At the same time, they may need medications to treat symptoms such as fluid retention (diuretics) or neuropathy.

For both types, patients may need an organ transplant when amyloidosis progresses to the point therapies cannot control it. Our cardiologists can help you decide whether a heart transplant or liver transplant is the best option.

Trust your heart to us

There is ongoing research to find new treatments and therapies for cardiac amyloidosis. Look to us for unmatched expertise, the most advanced programs and treatments, and the latest in research and clinical trials.