He died. We could see his heart on the echocardiogram. It looked normal. And yet he still died of heart failure. There wasn’t anything I or anyone could do to have stopped that. It was a tragedy. It was also a mystery. What was wrong with him? Why was he going into such bad heart failure?
Let’s roll the timeline back to a couple of other stories.
Story number 1: Headaches.
Disabling awful headaches in a woman who had never had problems with headaches. She was a highly functional working wife and mother. Her life was busy. And then her life ground to a halt. The usual migraine preventive treatments and therapies didn’t work. Local experts didn’t help. The major university center didn’t help. The highly specialized headache institute didn’t help. In desperation she went to the Mayo Clinic. There I found some wisdom. The doctor at the Mayo Clinic called me.
“Mike, I don’t know what she has. Clearly something has happened to her. There is something wrong. We do not know what it is or what to do to help her. In my experience, we usually figure this out eventually. Sometimes it is a new or unusual presentation of something we know about. Sometimes it is a new disease. It might not help you much, but we need to just support her and continue to wait and keep looking.”
I left primary care for cardiology. A few years later I ran into her.
Me: “How are you? How are your headaches?”
Her: “I am better now. It took a lot of time but eventually I got better.”
Me: “Did anyone ever figure out what was wrong with you?”
Her: “I was the first case in West Michigan of the West Nile Virus!”
Mystery. Solved.
Story Number 2: Shortness of breath
She was short of breath. It was a sudden change. Her life was being trimmed back by the new and progressive thing that was pulling her back. It was like a belt restraining her from the busy life that she had always enjoyed. Her brain was busy, active and young. Something in her body kept her from living what she had taken for granted in the past.
EKG: normal. Chest x-ray: normal. Echo: normal. PFTs: normal. Stress nuclear study: normal. Cardiopulmonary exercise test: Reduced exercise tolerance but no clear cause.
I couldn’t find anything to help her. Eventually we talked about doing the best she could to learn to live with it. We talked about gradually progressive exercise and rehab.
This patient I also left to my colleagues when I left primary care for cardiology fellowship.
Fast forward again about 5 years. I was rounding in the hospital. I walked into a patient room and there she was sitting in the chair in my patient’s room. She jumped up and came over and hugged me. I was there to see her husband but for a moment we talked about her.
Her: “Thank you so much for pushing for answers! I am cured!”
Me: “That is wonderful. What was wrong? What did they figure out?”
Her: “I got even worse. When I did they saw my heart rate going really low. They put in a pacemaker and it brought me back to my old self. I can do everything again now.”
Mystery. Solved.
Maybe the doctor from Mayo was right.
Maybe there are times in life when no matter how hard you try you can’t solve the mystery.
- It doesn’t mean that there isn’t something wrong.
- It doesn’t mean that there is no mystery.
- It just means that you may not be able to solve it in the moment.
- Sometimes, you have to just keep asking the questions and looking for answers.
- Sometimes you will get the answers later.
Soon after I finished fellowship I saw a patient with severe shortness of breath. The echocardiogram showed normal ejection fraction (squeeze of the heart). The heart walls were a little thick. I did a right heart catheterization and an endomyocardial biopsy. When we do an endomyocardial biopsy, we take a few tiny pieces of the heart muscle and send them to the pathologist to look at under the microscope. The biopsy showed green birefringence with congo red staining. It was cardiac amyloid. Further testing confirmed that it was ATTR (transthyretin) amyloid. This is a progressive condition where the body makes an abnormal form of a common protein. This protein then essentially gets “stuck” in the tissues. In this case the protein was getting stuck and filling up his heart muscle slowly over time. As it did so it made the heart thick and stiff. In order to pump, the heart has to be able to relax and fill with blood. If the heart cannot fill with the usual amount of blood, it cannot pump enough blood. The heart’s squeeze can look completely normal on an echocardiogram. The walls might look a little bit thickened but overall the appearance on echo can often be of a normally functioning heart.
Eventually I diagnosed more and more patients with ATTR amyloid. I called a friend from fellowship. He was seeing the same thing. He had started a “cardiac amyloid” center. Eventually we decided that ATTR amyloid was likely much more common than anyone thought. We in medicine had just not been recognizing it.
Since that time physicians in the heart failure world have become well aware of ATTR amyloid. We diagnose a lot of patients with it. We now have treatments for it. We also see that what we diagnose is likely the “tip of the iceberg”. There are likely a lot more patients with mysterious heart failure that might have amyloid. We don’t really yet know how many of these patients there are. One survey of patients over 60 with heart failure and a normal appearing echo suggested that amyloid was the cause 13% of the time. Another study found that of patients presenting for transcatheter aortic valve replacement (TAVR), one out of every 7 patients had amyloid.
Mystery. Solved (partly.)
My patient at the start of this blog died with bad heart failure but he had a normal ejection fraction. In retrospect I suspect that his poor heart performance was likely ATTR amyloid.
What does this mean beyond the bounds of the practice of medicine?
There are times when the world does not make sense. You know that something is wrong. You do not know what is wrong. As hard as you try to understand, in the moment you are unable to figure it out. You do not know what to do about it.
What do you do?
It is important to know that just because you can’t explain what is wrong, it doesn’t mean that nothing is wrong. Sometimes it means that you are just not able to figure it out in the moment. It could be a variation on some theme that you know well. It could be a new problem that you have not faced before. Time can be your friend. Sometimes in the future you will come up with answers. Sometimes time will bring healing on its own. Sometimes time will bring you an effective solution to the problem.
- Step 1: Admit that there is something wrong.
- Step 2: Do your best to try to figure it out. Seek expert advice and input.
- Step 3: Supportive care. Do the best you can to try to figure out how to live within the limitations of the problem.
- Step 4: Acknowledge that just because you don’t get an answer, it doesn’t mean that nothing is wrong. Retain hope that time will bring answers and resolution.
This clearly applies in medical practice.
It often applies in life too.
It amazes me how things that used to puzzle me, now, with age, make sense.
Sarah (my wife) has noted how with age certain passages of Scripture that used to be confusing, now make perfect sense. I agree. No one could have explained them to us at the time. We needed to live it. Time brought wisdom and understanding. Many times the answers didn’t come in an abrupt or blinding way. Often the answers came slowly and then in retrospect, made perfect sense.
Why couldn’t Glenda have just had Dorothy tap her heels at the start of the journey?
Mysteries.
Sometimes – with time – Solved.
