What is Cardiac Amyloidosis?

What is cardiac amyloidosis? Cardiac amyloidosis is when abnormal proteins, called amyloids, build up and deposit into your heart. As a result, the heart becomes stiff and the pumping function becomes weak. If left untreated, a patient may experience congestive heart failure, which occurs when fluid builds up in the body. Cardiac amyloidosis can also affect the kidneys, nerves, blood, bowel, rectum, liver and mouth.

What are the different types of amyloidosis?

There are 30 different types of amyloidosis. The “A” stands for amyloid, and the letters that follow “A” are the specific type of amyloid protein. There are three common forms of amyloidosis that affect the heart.

 1. AL Amyloidosis

“AL,” which stands for light chains or immunoglobulin-associated amyloidosis, is the most common type. It’s previously known as primary amyloidosis. AL amyloidosis is a disease of the bone marrow. The plasma cells in the bone marrow produce an unusual number of antibodies known as light chains. These antibodies break down and create amyloids that deposit into tissues in the body.

2. AA Amyloidosis

“A” stands for serum A protein. This disease was previously known as secondary amyloidosis because it is a reaction to another illness. Inflammation causes the liver to produce a protein called serum amyloid A protein, also known as SAA. Over time, the AA protein will separate from the SAA protein. The AA protein will deposit into tissue and cause AA amyloidosis. It occurs along with chronic infectious or inflammatory diseases, such as rheumatoid arthritis or inflammatory bowel disease.

3. ATTR Amyloidosis

“TTR” stands for transthyretin protein. ATTR is the hereditary form of transthyretin-related amyloidosis. ATTR is an abnormal protein produced by the liver. The TTR protein is present at birth, but amyloidosis normally occurs during adulthood. It’s a slowly progressive disease, and many people do not notice the signs of the disease until it progresses. The type and location of an amyloid gene abnormality can affect the risk of certain complications, the age at which symptoms first appear, and the way the disease progresses over time.

What are the symptoms of amyloidosis?

Symptoms of amyloidosis depend on the individual and type of amyloid protein. Symptoms can often be vague, so it’s important to schedule an appointment with your doctor. To make an appointment with an Ochsner physician, call 504-842-4135 or visit my.ochsner.org.

Symptoms may include:

• An irregular heartbeat
• Shortness of breath
• Numbness, tingling or pain in your wrist (carpal tunnel syndrome), or feet
• Thickening of the skin or easy bruising, including purplish patches around the eye
• Frequent dizziness while change in position (orthostatic hypotension)
• Weakness and severe fatigue
• Ligament rupture in arm (biceps rupture)
• An enlarged tongue
• Severe chronic back pain (lumbar spinal stenosis)
• Poor functioning heart valve (aortic stenosis)
• Diarrhea (possibly with blood)
• Difficulty swallowing
• Significant, unintentional weight loss

What are the treatment options?

There’s no cure for amyloidosis. However, treatment can help limit the production of amyloid protein and manage symptoms. Treatment depends on the type of amyloidosis and the source of the amyloid production.

The treatment options include:

• Medication, such as Vyndaqel, Vyndamax, Onpattro and Tegsedi
• Chemotherapy
• Transplant
• Dialysis
• Diet and lifestyle

At Ochsner, we offer rapid diagnosis, new therapies and a multidisciplinary approach to care for our patients.

Click here to learn more about Ochsner’s Cardiac Amyloidosis Program.