Friday Reflection 2: The Pain You Know

MC is an 18-year-old man admitted to the hospital with a vaso-occlusive pain episode due to sick cell anemia.

We all have familiar pains. Many of them come with their own stories. I tore the labrum in my right shoulder – my son knocked me down as we got off a ski lift – and I still occasionally get a twinge of pain. The carpal-metacarpal joint of my left thumb is prone to sprains – I dislocated this joint in 10th grade, warming up a hard-throwing lefty in a poorly lit gym.

When these symptoms flare, they are not alarming. I know their origin and their history. Sometimes a pain even brings back a pleasant memory – like early spring indoor baseball practice when I was 16.

I have patients who associate recurrent symptoms with truly horrific experiences.

There are other familiar symptoms, traceable not to single event but to the idiosyncrasies of our individual biology. My caffeine withdrawal headache always occurs around my right eye. I know when my asthma is acting up, long before any physician could hear a wheeze.

We teach medical students that asking a patient to identify her symptom is a critical part of history taking. “Have you ever experienced this before?” The answer is important. A chronic symptom suggests a different set of possible diagnoses than an acute or recurrent one. A familiar headache may be disabling but is unlikely to be life-threatening. A new headache is usually the symptom of a cold but there is the possibility that it is the first symptom of a terminal illness.

I’ve always appreciated caring for older athletes. They tend to have a fine sense of their bodies. They know what pains are “normal.” They can differentiate soreness from pain, being out of breath from being short of breath, being tired from being fatigued.

As we age, we accumulate familiar infirmities. Visits to the doctor for these symptoms alarm neither patient nor doctor. Visits are filled with comments tinged with acceptance, not foreboding.

“My back still bothers me. You think there is anything we can do?”

“My hip is a little worse, but I don’t think it is time for surgery.”

“I can feel my gallbladder when I really go nuts at dinner.”

On the other hand, every adult knows that a new symptom is cause for concern. An attentive physician can usually sense the worry during the initial exchange of pleasantries. Weight loss, a new growth, a change in bowel habits, a new pain -- these are disquieting symptoms. One of the greatest pleasures as a doctor is providing a benign explanation for such a symptom. You can feel the lightening of the atmosphere in the examination room when you can clinically diagnose a common benign condition:

That skin lesion is not a melanoma. It is a dermatofibroma, you can have it removed or live to a hundred with it.

That pain is a textbook presentation for trochanteric bursitis. I wish we had a student with us today to hear you describe it. I can do an injection now and you’ll be fixed.

The growth on your abdomen is not pancreatic cancer; it is a Spigelian hernia. We can discuss if you want to do anything about it.

MC was a patient I admitted to the hospital as a 3rd year medical student on my internal medicine clerkship. It was the fall of 1991. He was a good-looking, well-built, young man. He seemed mature and independent for his age, probably related to years of living with and managing a chronic disease. MC had been diagnosed with sickle cell anemia in early childhood. He came to the emergency room with terrible pain in his back, chest and legs.

Sickle cell anemia is an interesting, dreadful, and confounding disease. Caused by the mutation of a single base pair (of the 3 billion or so pairs that make up our entire genome), patients with sickle cell anemia have abnormal red blood cells; the cells that carry oxygen to every cell in our bodies. Instead of the classic “biconcave disc” of the normal red blood cell, red blood cells will take on the shape of a sickle or crescent moon. When I quiz medical students about sickle cell disease, I start at the head and work my way down. I ask how sickle cell effects every part of the body. Stroke, sinusitis, pulmonary infarction, gallstones, kidney injury, bone infections, priapism and on and on and on.

The most common problem that patients with sickle cell anemia face is the acute pain episode. During these events, the abnormal cells block the regular flow of blood and thus, the delivery of oxygen. This leads to pain, often in the back, chest and long bones.

Though the genotype (the genetics of the disease) are the same in every patient, the phenotype (the clinical expression of the disease) varies widely. There are patients for whom the disease is a dictator, unpleasantly ruling every day of their life. Others go through life largely unaffected by a disengaged monarch.

We think sickle cell originated in Africa, many of thousands of years ago, and persisted because of an unexpected benefit of the disease. If a person inherits a sickle cell gene from only one of their parents, they don’t have the complications of sickle cell disease but they carry some resistance to the worst form of malaria, falciparum malaria. Thus, no sickle cell genes, no sickle cell anemia but full susceptibility to malaria; one gene, no sickle cell anemia and a modicum of protection; two genes, the horrors of sickle cell disease. The fact that sickle cell persists is a testament to the toll that malaria exacted in prehistoric Africa. If two healthy parents, each of whom carry one normal gene and one sickle cell gene, have children, one quarter of their children will have sickle cell anemia, one quarter will have no sickle cell genes and one half will have one sickle cell gene and one normal gene (and thus protection against malaria). If we assume that sickle cell disease was universally fatal in childhood in the past, you realize that, for sickle cell anemia to persist, the selection pressure of malaria must have been even stronger. Our species was better off losing one in four children to sickle cell disease than to have no protection against malaria.

MC came to the emergency with terrible pain. He felt it in his back, chest and thighs. He had been doing well until spending a long afternoon in the park with friends. It was hot, he felt as if he got dehydrated and, as often happens in similar situations, he began to feel his sickle cell pain. He and his mom did what they always did in this situation. He pushed fluids, used heating pads and took pain medications. Often this worked. This time, it did not. After two days of suffering with the pain at home, he came to the emergency room.

The pain was severe but it was a familiar pain. The hospital had always been a place of refuge for him. Oxygen, intravenous fluids, powerful pain medications, once a blood transfusion, would reliably have him better in a few days.

So why, among the dozens of patients for whom I cared during those three months on the internal medicine service, is he the patient that I remember?

I remember him because of the cruel turn his hospitalization took. He came to the hospital with a familiar pain. He was not alarmed. He had learned what this pain meant and what lay ahead. It was not until an overeager medical student did a far too extensive physical exam that the hospitalization became memorable. I noted the usual signs of a sickle cell pain episode. MC was uncomfortable in bed. His conjunctiva and palms had the diagnostic pallor of anemia. He had a systolic flow murmur, also related to his anemia. He also had oral thrush, a fungal infection on his tongue.

Thrush is not a finding referable to sickle cell disease. In adults it is a relatively common finding in people who wear dentures, have chronically dry mouths or in people treated with antibiotics or inhaled corticosteroids. In the ‘80s and 90’s, in people without those risk factors, oral thrush generally meant one thing, HIV. Specifically, the immunosuppression that comes with late-stage HIV.

I knew very little at the time but I knew enough to know this about thrush. I knew that the blood transfusion he had had in 1984 was a risk factor for HIV. I also knew that I was ill prepared to share my suspicion.

Later that night, I accompanied my intern who verified my finding and presented the news. I remember the conversation almost perfectly. He sat at the bedside while I stood, silently, behind him.

I’ve got some news we need to share with you about your labs.

Am I really anemic this time?

You are anemic but it’s not too bad. It is about the thrush that Adam noticed in your mouth.

Yeah?

Thrush is a fungal infection. We sometimes see it in people with diabetes or people on certain medications. But you do not really have a reason to have it.

So, why do I have it.

We don’t know but we are worried that your immune system is suppressed. We think you might have HIV, AIDS.

I remember MC looking absolutely stricken. If possible, he looked scared, angry and withdrawn all at once.

We don’t know for sure but we need your consent to test you for it.

How would I have gotten it?

You had a blood transfusion in 1984. There was a lot of HIV already in 1984 and they were not yet screening the blood supply.

With tears in his eyes he quietly said, I am only here for my sickle pain.

There was a long uncomfortable silence before MC asked us to leave so that he could call his mother. His HIV test came back positive. By this time, his sickle cell pain had already resolved. His T-cell count, a measure of the damage to his immune system, showed that he was at the latest stage of the disease. I don’t know what happened to him after the hospitalization but knowing that it was 5 long years before we had robust therapy for the disease, I expect the worst.

Even though it was not the pain that MC knew so well that deceived him, I remember this case because he felt wronged by his familiar pain. He came in with a clear sense of what was going on only to be told that something entirely different, and much worse, was happening.

I think of MC whenever I greet a patient in the office with a casual, “How are you?” and get in return, “I don’t know doc, you tell me.” My initial reaction to that all-too-common quip is to be annoyed. I can only tell you how you are if you give me data to work with, I think. But then I remember MC. All of us will get a terrible diagnosis at some point. For some of us, we will expect it, it will the explanation for that new symptom. For others of us, it will be a surprise. A finding a doctor makes while screening for a disease or checking some routine tests.

The diagnosis might even be made when we are just getting that familiar pain checked.