Cardiac Amyloidosis Program

What is Cardiac Amyloidosis?

Amyloidosis is a condition where amyloid proteins (dysfunctional proteins that stick together) build up in tissues and organs, such as the kidneys, spine, GI tract and nerves. When they build up in the heart wall, called cardiac amyloidosis, it makes it harder for the heart to function correctly, leading to heart failure. Early diagnosis and treatment are crucial to managing this condition effectively. 

There are different types of cardiac amyloidosis, including AL amyloidosis and ATTR amyloidosis.

Light chain amyloidosis (AL amyloidosis) 

Light chain amyloidosis is a rare bone marrow disease where abnormal proteins called amyloid light chains build up in organs. These light chains are produced by plasma cells in the bone marrow and can form clumps that damage various organs and tissues.

Transthyretin amyloidosis (ATTR amyloidosis) 

Transthyretin amyloidosis is a condition where abnormal transthyretin proteins (produced in the liver) build up in the heart muscle. This type of amyloidosis can be hereditary or occur without a known cause. It is a cause of heart failure, particularly affecting those older than 65 years. It may also cause atrial fibrillation, heart blocks requiring pacemaker implantation and aortic stenosis. It often remains undiagnosed for years, only being recognized at an advanced stage when current treatment options are less effective. 

Symptoms and Diagnosis

Early signs of cardiac amyloidosis are often unclear and hard to identify, making the condition difficult to diagnose in its initial stages. Our clinic now provides patients with expertise in recognizing and diagnosing the disease. Timely diagnosis and treatment are key to treatment.

Common symptoms of cardiac amyloidosis include fatigue, shortness of breath, swelling in the legs, heart blocks and atrial fibrillation. It may also cause:

• Carpel tunnel, often involving both hands (inflammation in the hands/wrists)
• Lower back pain due to spinal stenosi
• Multiple joint pains
• Bicep tendon ruptures
• Numbness or tingling in your feet or hands
• Feeling lightheaded and dizzy when standing

Diagnosis is done by nuclear medicine scans in combination with blood tests, echocardiography, cardiac MRI and rarely biopsy.

What Are Treatment Options for Cardiac Amyloidosis?

The treatment for cardiac amyloidosis depends on the specific type of amyloid protein involved, the organs impacted, age and how far the disease has progressed. Currently, there are no treatments to reverse the impact the disease has. However, medications, including newly approved ones, are available to slow or even stop the progression of the disease. 

Hematologists/oncologists treat AL amyloidosis. The goal is to stop the abnormal light chain from producing. This may be done through steroids, chemotherapy or stem cell transplant.

For ATTR amyloidosis, treatment may include oral medication or injections to stabilize the proteins or stop their production. In later stages heart and/or liver transplant maybe required.