What Is Cardiac Amyloidosis? | MedStar Health

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What is Amyloid?

Amyloid is a starch-like substance that travels and attaches itself to the heart and other organs such as the nerves, the kidneys, and the eyes.

There are several types of this disease, including:

  • AL (A=Amyloid, L= Light Chain): This type of amyloidosis occurs when plasma cells in the bone marrow create antibodies with abnormal proteins. These proteins can’t be broken down, and they end up being deposited in the body’s organs. AL routinely affects people in their fourth decade of life it routinely affects the heart, kidney, GI tract, tongue, nerves, liver, and soft tissues.
  • ATTR (A=Amyloid, TTR= Transthyretin): Occurs when TTR, a protein made mostly in the liver pathologically misfolds and aggregate to form rigid amyloid structures that then travel and deposit in organs such as the heart or the nerves. ATTR could be:
    • Hereditary: This type, passed down through families, involves a genetic change that causes the liver to make misfolded TTR protein.
    • Wild-Type: There is no genetic mutation involved; instead, the TTR protein randomly begins to misfold and accumulate. The exact pathophysiology is not well understood but it is more commonly seen in Caucasian men aged 70 years old or older.
  • AA (A=Amyloid, A= Serum Amyloid A protein): This type usually affects the kidneys, the gastrointestinal track, or the liver but it also can affect the heart. AA amyloidosis can occur in people who have chronic inflammatory diseases, such as inflammatory bowel disease or rheumatoid arthritis.

What are the symptoms of amyloidosis?

Amyloidosis is a multi-system disease affecting multiple organs in the body. Symptoms appear subtly and for this reason, diagnosis of the disease may be delayed or missed. Most patients are seen by multiple providers prior to arriving to a confirmed diagnosis. Common red flag symptoms include:

  • Ocular manifestation
    • Dark floaters
    • Glaucoma
    • Abnormal blood vessels in the eye
    • Pupillary abnormalities
    • Dry eye

  • Spinal stenosis
    • Pain, tingling, or numbness in the legs and buttocks

  • Nephropathy
    • Protein in urine
    • Renal failure

  • Bilateral carpal tunnel syndrome
    • Numbness and tingling in the hands and arms

  • Peripheral sensorimotor neuropathy
    • Weakness, numbness, or pain beginning in the hands and feet that can progress to the central part of the body
    • Gait disability
    • Balance disorder

  • Cardiovascular manifestations
    • Irregular heart beat
    • Conduction blocks
    • Congestive heart failure (including shortness of breath, generalized fatigue, and peripheral edema)
    • Ventricular wall thickening with preserved ejection fraction and absence of left ventricular dilation

  • Autonomic neuropathy
    • Orthostatic hypotension
    • Recurrent urinary trach infections (due to urinary retention)
    • Sexual dysfunction
    • Sweating abnormalities
    • Nausea and vomiting

  • Gastrointestinal manifestations
    • Nausea and vomiting
    • Early satiety
    • Diarrhea
    • Constipation
    • Unintentional weight loss

Systemic manifestations of ATTR amyloidosis commonly result in delayed diagnosis.

What are the risk factors for amyloidosis?

Although anyone can develop amyloidosis, several factors can increase your risk for the disease. These include:

  • Age: Most people with Wild Type amyloidosis are older than 70
  • Genetics: Family history of hereditary amyloidosis
  • Inflammation: Chronic inflammatory diseases increase the risk for AA amyloidosis
  • Race: People of African descent are more likely to carry a genetic mutation for hereditary ATTR
  • Sex: Men are more likely to have both AL and wild-type ATTR

Tests

Although testing varies based on individual clinical symptoms, the tests that are most used in the diagnosis of cardiac amyloidosis include:

Electrocardiogram (ECG)

An electrocardiogram, also known as an ECG, measures the heart’s electrical activity. The ECG will be able to detect an abnormal rhythm in your heart such as Atrial Fibrillation, which is common in patients with cardiac amyloidosis.

Echocardiogram

An echocardiogram uses high-frequency sound waves to create images of your heart. The Echocardiogram will demonstrate the size of the heart chambers as well as detect problems with your heart valves.

Heart biopsy

In a heart biopsy, your doctor will remove small samples of your heart muscle tissue that is sent to a laboratory for evaluation. Although, heart biopsy is the gold standard test to confirm the presence of amyloid in the heart, new technology has allowed for the accurate diagnosis of amyloidosis, avoiding a biopsy in most cases

Magnetic Resonance Imaging (MRI)

Magnetic resonance imaging, better known as cardiac MRI, is a combination of radio waves, magnets and computer technology to create images of your heart and blood vessels. A cardiac MRI will tell us if there is a concern for amyloid in the heart.

99mTc-PYP Scintigraphy

A Cardiac PYP Scan uses a radioactive dye (99mTc) to visualize if there is ATTR in the heart. It can be used in the diagnosis of amyloidosis along with blood and urine testing. It will also tell us how severe the disease is and how your body responds to treatment.

Genetic testing

Genetic Testing may provide additional information regarding your type of amyloidosis and your family’s risks. MedStar Heart and Vascular Institute has the expert care to offer genetic testing and counseling in order to better treat you and your family.

Treatments

Management of Cardiac Amyloidosis varies based on the type of amyloidosis that you are diagnosed with.

  • For AL, you will receive chemotherapy to stop the light chain production in the bone marrow. In some cases, stem cell transplantation is an option allowing the bone marrow to make new healthy cells.
  • For ATTR, novel treatments have been shown to stop the amyloid production in the liver. There are multiple options as well as some new clinical trials. Your MedStar provider will guide you to choose the best option for your condition.
  • For AA, treating the underlying inflammatory disease will help stop the production and accumulation of amyloid in the heart.

In addition to stopping Amyloid production, amyloid accumulation in the heart must be treated to improve your symptoms and quality of life. Treatment options include:

  • Heart failure care: Because amyloidosis affects the heart, you might experience fatigue or shortness of breath. The MedStar Infiltrative Cardiomyopathy team will help you manage the effects of the amyloid accumulation in the heart.
  • Heart Rhythm control: Amyloidosis may cause abnormal heart rhythms causing additional symptoms. MedStar Electrophysiology team offers heart rhythm control strategies including medications or surgical procedures.
  • Transplant: Some people with amyloidosis may be eligible for a heart transplant once amyloid production has been controlled. MedStar Heart and Vascular Institute is one of the leading Transplant centers in the DMV area.

Why choose MedStar Health Infiltrative Cardiomyopathy team for cardiac amyloidosis management?

Specialized expertise: Our multidisciplinary team understand the pathophysiology of the disease and provide individualized state of art treatment for this rare condition.

Support and collaboration: Amyloidosis affect every aspect of your life and wellbeing. Our approach is to offer comprehensive care from experts in multiple specialties to support you throughout your trajectory. Our team is pursuing national accreditations from amyloid associations to validate our all-inclusive approach. Through our local support group, you will be able to connect to other patients and families and learn different strategies that lead to recovery.

Innovative treatments: Our team is incessantly working on several ongoing clinical studies to improve the management of amyloidosis.

Organ transplant leaders: MedStar Heart and Vascular is the leading transplant program in the DMV area, which may provide an option for people with some amyloid disorders.

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Additional resources

MedStar Health Amyloidosis Wellness Groups

Our Multidisciplinary Infiltrative Cardiomyopathy Program offers both AL and ATTR Wellness Groups to share strategies on how to live well despite the diagnosis. Our wellness groups are focused on providing education regarding the disease process and medical treatments by our well recognized experts on the field. Additionally, a wellness element is included in each meeting to fill in the gap between medical treatment and the need to develop coping mechanisms to continue to have optimal quality of life. Currently, our groups meet online on a quarterly basis but hope to offer in-person meetings in the near future. To learn more, please call 202-877-0161.

Ask MedStar Heart & Vascular Institute

Have general questions for our heart and vascular program? Email us at AskMHVI@medstar.net. If you have clinically-specific questions, please contact your physician’s office.