Cardiac Amyloidosis Program

Cardiac amyloidosis occurs when abnormal proteins called amyloids build up and form deposits in your heart, essentially taking the place of normal heart muscle. This buildup causes the heart to become stiff, reducing the heart's ability to fill with blood between heartbeats.

While there is no cure, treatments available at Ochsner can limit the production of amyloid protein and help you manage your symptoms. We have diagnostic equipment for amyloidosis you won’t find elsewhere in the Gulf South, and our specialists are among the most experienced.

To learn more about cardiac amyloidosis, visit the amyloidosis foundation webpage.

There are approximately 30 different types of amyloidosis. Hidden heart failure can run in families, which is a genetic risk factor.

The different types and their symptoms are:

1. AL amyloidosis (immunoglobulin light chain amyloidosis) - AL amyloidosis can affect your heart, kidneys, skin, nerves, liver and GI tract. It was previously known as primary amyloidosis. AL is caused by an abnormal protein developed in the bone marrow.
   1. Symptoms of AL amyloidosis:
      1. An irregular heartbeat
      2. Shortness of breath
      3. Numbness, tingling or pain in your wrist (carpal tunnel syndrome), or feet this can lead to a ligament rupture in arm (Biceps rupture) (does occur in AL, but mostly occurs in TTR)
      4. Easy bruising, including purplish patches around the eye
      5. Frequent dizziness while change in the position (Orthostatic hypotension)
      6. Weakness and severe fatigue
      7. An enlarged tongue
      8. Difficulty swallowing
      9. Diarrhea and constipation (possibly with blood as the disease progresses)
      10. Significant, unintentional weight loss
2. TTR amyloidosis - there are two types: hereditary and wild-type. Both types of TTR amyloidosis are caused by an abnormal protein where 95% is developed in the liver and 5% is developed in the eyes.
   1. Hereditary amyloidosis (hTTR) - also known as familial amyloidosis, affects your heart, nerves, GI tract and autonomic system. This type is due to a mutated gene.
      1. Symptoms:
         1. An irregular heartbeat
         2. Shortness of breath
         3. Numbness, tingling or pain in your wrist (carpal tunnel syndrome), or feet this can lead to a ligament rupture in arm (Biceps rupture) (does occur in AL, but mostly occurs in TTR)
         4. Frequent dizziness while change in the position (Orthostatic hypotension)
         5. Weakness and severe fatigue
         6. Severe chronic back pain (Lumbar spinal stenosis)
         7. Poor functioning heart valve (Aortic stenosis)
         8. Diarrhea and constipation (possibly with blood as the disease progresses)
         9. Significant, unintentional weight loss
   2. Wild-type ATTR (ATTRwt) - once called senile systemic amyloidosis and senile cardiac amyloidosis, is related to the aging process. It’s prevalent in older age, seen in ages of 60 and beyond but mostly in 70- to 80-year-olds. Deposits of TTR can be found throughout the body but most commonly in the heart. This type happens spontaneously through old age.
      1. Symptoms:
         1. An irregular heartbeat
         2. Shortness of breath
         3. Numbness, tingling or pain in your wrist (carpal tunnel syndrome), or feet this can lead to a ligament rupture in arm (Biceps rupture) (does occur in AL, but mostly occurs in TTR)
         4. Frequent dizziness while change in the position (Orthostatic hypotension)
         5. Weakness and severe fatigue
         6. Severe chronic back pain (Lumbar spinal stenosis)
         7. Poor functioning heart valve (Aortic stenosis)
         8. Diarrhea and constipation (possibly with blood as the disease progresses)
         9. Significant, unintentional weight loss

While it’s true that anyone can develop amyloidosis, risk factors include:

1. Age
   1. AL amyloidosis can begin at age 35 in both men and women.
   2. TTR amyloidosis begins around age 60. Women tend to have TTR at a later age, but not exclusively, and men tend to have TTR at a younger age.
2. Sex
   1. Nearly 70% of people with AL amyloidosis are men and approximately 75% of men have wild-type amyloidosis.
3. Genetics
   1. Hereditary amyloidosis is due to a mutated gene.
4. Race
   1. Research shows that people of African descent are at a higher risk of carrying a genetic mutation associated with hereditary amyloidosis.

Along with consultations with Ochsner amyloidosis specialists, tests for cardiac amyloidosis may include:

• An echocardiogram with strain imaging
• An electrocardiogram (EKG) - a recording of the heart's electrical activity
• Blood tests
• An MRI or technetium pyrophosphate scan (PYP Scan)
• A cardiac biopsy
• Genetic testing

Ochsner is the only medical center in the region where you can get a PYP scan, an alternative to biopsy for diagnosing cardiac amyloidosis in some patients.

Your individualized treatment plan will depend on the type of amyloidosis you have as well as the source of the amyloid production.

AL amyloidosis

• High-dose chemotherapy with stem cell transplant

Wild-type TTR amyloidosis (TTRwt)

• A medication called tafamidis (a protein stabilizer) or vendamax (commercial name)

Hereditary TTR amyloidosis (hTTR)

• A medication called tafamidis (a protein stabilizer) and a gene silencer called onpattro or amvuttro if there is evidence of polyopathy.
• Heart transplant
• Liver transplant

Supportive care may include:

• Diuretics
• Low-salt diet
• Blood-thinning medication
• Medication to control your heart rate
• Compression stockings
• OT and PT can be provided for those who need assistance with polyneuropathy
• An ENT can be provided for those with enlarged tongues and swallowing issues

A new drug. Vyndamax (tafamidis meglumine), is a breakthrough drug therapy for cardiac amyloidosis, which makes it the first drug in the U.S. to be approved to treat amyloidosis. It's the first to treat cardiomyopathy of wild-type or hereditary transthyretin-mediated amyloidosis (ATTR-CM). This drug is approved for TTR Cardiomyopathy in adults to reduce cardiovascular mortality and cardiovascular-related hospitalization. This treatment is available at Ochsner.

In 2018, research was done at medical centers, including Ochsner, and it showed that a drug called tafamidis had good results in people with ATTR amyloidosis. Moreover, onpattro and tegsedi are the drugs for the treatment of polyneuropathy associated with this cardiac condition.

Since 2018, Ochsner has been involved in several clinical trials. The Ochsner team is currently conducting research in a variety of aspects of amyloidosis. Ask your doctor for more information.

To view the current clinic trials at Ochsner, please visit their webpage.

Cardiac amyloidosis tends to be underdiagnosed or misdiagnosed. If your patient isn’t responding to treatment and has carpal tunnel syndrome, shortness of breath, and/or has had an echocardiogram that shows a ventricular wall thickness, refer them to an amyloidosis specialist at Ochsner. Our team will keep you informed every step of the way.

For more information, call the John Ochsner Heart and Vascular Institute and ask to speak to someone about amyloidosis 504-842-4135.

Diagnosing cardiac amyloidosis is complicated. Symptoms can be vague and similar to those of other common diseases. Since amyloids can lead to life-threatening organ failure, receiving an accurate diagnosis promptly is critical.

To make an appointment, call 504-842-4135 or visit my.ochsner.org.