A cardiologist confronts his own case of cardiac amyloidosis

For authors there are no bad experiences, as each provides an opportunity to write about.

Westin et al¹ published a recent article that a nonobese man, age 70 or over with prior surgery for bilateral carpal tunnel syndrome 5 to 15 years earlier, had a 20% risk of having cardiac amyloidosis (CA). I fit this profile, discussed the issue with my cardiologist, Adam Carlisle, MD, and we proceeded with amyloid screening studies. Blood and urine studies excluded light-chain amyloid. However, the technetium pyrophosphate (PYP) nuclear scan was strongly positive for CA (Figure 1). A buccal smear genetic test ruled out hereditary transthyretin (hATTR) amyloid, leaving one with the expected wild-type ATTR.

Figure 1.

My technetium pyrophosphate PYP scan.

There are several types of amyloid. This one begins as a protein made in the liver, structured like a four-leaf clover, and carries thyroid hormone and vitamin A throughout the body. For several reasons, like heredity and age, it can break down into individual leafs, become amyloid, and invade especially heart muscle and peripheral nerves.

Around this same time, I developed atrial flutter with a 4:1 block (Figure 2). Anticoagulation with apixaban was instituted. Because of increasing dyspnea, just walking around the block I had a successful transesophageal echo-guided cardioversion.

Figure 2.

My ECG showing atrial flutter with 4:1 atrioventricular block.

I met with our heart failure specialist as the initial step to obtaining tafamidis, a new and expensive drug that attaches to the thyroid-binding site on the TTR tetramer (four-leaf clover) structure, keeping it from breaking down into single parts (monomers) that can deposit in the heart.² This drug was developed by a chemist at Scripps, Dr. Jeffery Kelly.

I may also have amyloid-associated peripheral neuropathy, evidenced by mainly imbalance and proprioception issues. Another type of drug, a so-called “ATTR silencer” (patisiran, inotersen), decreases ATTR production in the liver. The latter drugs can be combined with tafamidis, right now in randomized studies, and offer hope of improving the survival statistics and also the possibility of removing some of the amyloid deposits in the heart and nerve tissues.

There were several issues to be considered:

1. Is the drug tafamidis in my case cost-effective (i.e., <$100,000 per year of life extended)? If not, one might choose for the disease to run its course, without totally depleting family savings, and treat symptomatically with available low-cost drugs, although the 2.5-year survival doing that is only 57%.² When I complained about the cost, my prescribing doctor (about age 41 with school-aged children) said, “Just put it in perspective like you are sending another child to private school.” My Medicare part D (Silverscripts) helped lower my annual drug cost to $27,500 ($75 per daily capsule). I shopped around and the Humana part D reduced the cost to $19,300. I also learned that Pfizer has VyndaLink for financial assistance, which since I only work part-time has lowered my cost even more.

2. The endpoint is usually death due to heart failure or sudden death, fates I am very familiar with during my 50 years of cardiology practice, and ones that I don’t fear.

3. The atrial flutter fibrillation may be difficult to control. In conversing with my electrophysiologist, Bobby Smith, MD, I’m told that ablation can be problematic in CA. Several published reports, however, offer some possibility of benefit from the ablation procedure, perhaps more so for atrial flutter than atrial fibrillation.^3,4

4. At least one thing to be learned from my case is that in the future tissue from carpal tunnel surgery and biceps tendon rupture should be analyzed for amyloid. If it is present, the individual should have periodic cardiac scans to detect the very first appearance of CA.

5. In viewing a disease that even with therapy has about a 5-year survival time, akin to many cancers, one needs to confirm end-of-life issues. I will likely opt to be cremated and buried in our family plot next to our son, Bradley, with just a family-only simple graveside service.

To concerned family and friends, I would simply ask that you sing no sad songs for me. I have had a wonderful wife, Marilyn, for 58 years and counting, as well as three children and six grandchildren who have brought and continue to bring great joy into my life. I have had a profession and a wide variety of patients that I have learned to cherish.

As one heavily involved in sports, I have participated on championship high school and college (Duke) basketball teams, served as a team physician for the Atlanta Braves for 41 seasons (including five World Series), and attended four Olympic Games in my job as chief medical officer for the 1996 Atlanta Olympics. I have likewise enjoyed doing preparticipation screening physical exams for the past half-century for Special Olympic athletes.

Interested in adventure travel, we have experienced trips to all seven continents, seeing Mount Everest up close, Machu Picchu, the migration of wildebeests in Kenya, and the moai on Easter Island. So, the impact of a recent serious cardiac condition has been greatly countered by the overwhelming realization of a life to date richly blessed.

One has to be optimistic and retain a sense of humor. I recently saw my Emory neuro-ophthalmologist for my routine 6-month visit. I updated him on my new disease. He responded that an Emory doctor had that same disease and died 6 months later. I then asked him if I should bother to schedule my return visit in 6 months or just wait and see.

DISCLOSURE STATEMENT

The author reports no funding or conflicts of interest.