Every Patient Tells a Story

by Lisa Sanders

  He was a substitute teacher. And that morning he felt strangely nervous. He could feel his heart pounding in his chest and hear himself breathing in short, deep gasps. He’d trained for five years to get here; done internships in some of the worst neighborhoods in urban upstate New York, and yet this middle-class ninth-grade Spanish class in rural Connecticut had him scared? His racing heart told him it was true.

  But was this fear? All he knew was that it was hard to breathe. Really hard. And suddenly he was terrified. Breathing—the easiest, most natural thing in the world—all at once felt neither easy nor natural. He could feel himself go through the motion of breathing and yet the breath didn’t seem to make it to his lungs. He felt sweat beading coolly on his face. His tie felt too tight around his neck. He glanced at the clock. Could he make it to the end of the period? He sat behind the desk at the front of the room and tried to relax.

  The bell finally rang. The students dropped their papers onto his desk and clotted at the door. Crosby was right behind them.

  The hallway to the school nurse’s office seemed to stretch out into the distance. Every step was an effort. “I can’t breathe,” he croaked, once he finally made it to the tiny medical office. “I feel sick.” Pat Howard, the school nurse, led him to a bed. He could hear her asking him questions, trying to get more information, but it was hard to speak. He felt like he was drowning on dry land. She removed his tie, then placed a mask over his mouth and nose. The cool rush of oxygen brought some relief. He remembered being loaded into an ambulance. When he opened his eyes again, he was in the emergency room surrounded by unknown faces.

  He was quickly diagnosed with a massive pulmonary embolus. A blood clot from somewhere in his body had broken free and been carried through the circulation into the heart, then lodged in his lungs. He was started on blood thinners and admitted to the ICU where he could be monitored closely. As soon as he was stable the doctors turned their attention to the clot itself: where had it come from and why did he have it? They needed to know because another assault like that could kill him.

  Clotting is something our lives depend on. But like so much in the body, context is everything. In the right place, at the right time, a blood clot can save your life by preventing uncontrolled bleeding. In another setting, that same clot can kill. Clots normally form at the site of any injury to a blood vessel. They can also form when blood stops moving; that’s why anything that causes prolonged immobility, like traveling or being stuck in bed, increases the risk of a pathological clot. Pregnancy increases your risk. So do certain drugs and hormones. Some people have a genetic abnormality that makes their blood coagulate too readily. Finding the cause of a clot is crucial to estimating the risk of another.

  So, his doctors looked: He had no clot in his legs—the most common source of abnormal blood clots. CT scans of his chest, abdomen, and pelvis likewise showed nothing. He hadn’t traveled recently, hadn’t been sick. He took no medicines and didn’t smoke. His doctors sent off studies of his blood to look for any evidence that his blood coagulated too eagerly. Normal. They could find no reason for this otherwise healthy young man to develop a clot. He was discharged from the hospital after two weeks and told that he would have to be on warfarin, a drug that prevents blood from clotting, for the rest of his life. Without it the risk that he would have another clot was just too high.

  It’s difficult to be a patient with an illness that can’t be explained. What made that uncertainty even worse was the new certainty that accompanied it—that he would have to take a blood-thinning medicine forever. He was twenty-three years old, a jock with a sport for every season. The blood-thinning medicine would protect him from another pulmonary embolus but in return he would have to avoid anything that could cause bleeding—including the games he loved.

  The patient searched for an alternative and found my friend Tom Duffy, a hematologist at Yale University with a reputation as a great diagnostician. He hoped that Duffy could figure out what caused this devastating pulmonary embolism and possibly get him off the warfarin.

  Duffy is a slender, fit man in his sixties with round tortoiseshell glasses, a preference for bow ties, and a precise, studied manner of speaking. He listened to the patient’s story and then asked for a few more details: What kind of physical activity had he been doing in the weeks before the clot? He was alternating three days of weightlifting with two days of swimming or running. Had he taken any performance-enhancing drugs? The young man admitted that he had when he was younger but he’d taken nothing for years.

  As he listened to the patient, Duffy considered the possibilities. The first set of doctors had done the usual testing, so this was going to be one of the unusual causes of pulmonary embolus. The scans done when he was in the hospital hadn’t shown a clot in the vessels of his legs or trunk. A rare blood disease called paroxysmal nocturnal hemoglobinuria can cause blood clots in the liver, the spleen, or beneath the skin. The CT scan wouldn’t have shown that. Could he have this rarity? Or could he have a myxoma, a rare type of tumor that grows in heart muscle, which can cause a clot within the heart itself? The physical exam might give some clues if these diseases were involved.

  As the patient undressed for the exam, Duffy was struck by the highly developed muscles of his upper body. “He looked like one of those young men in a fitness magazine,” he told me later. “It was quite striking.” Otherwise his exam was completely normal: there were no extra sounds in his heart suggesting a tumor or anything else obstructing the flow of blood. His abdominal exam revealed no tenderness or enlargement that would suggest a clot hidden there.

  Duffy looked at the patient again. He remembered something he’d learned in medical school many years before. He lifted the patient’s arm until it was parallel to the floor. Carefully placing a finger over the pulse at the young man’s wrist, he moved the arm so that it was pointed just slightly behind the patient. Then he asked the patient to tilt his head up, turn his face away from the elevated arm, and take a deep breath. When he did that, the pulse disappeared. When the patient looked forward again, the pulse returned. He repeated the maneuver. Again, the pulse disappeared when the patient turned his head and took a breath. Immediately Duffy suspected what had caused the clot.

  The vessels that carry the blood from the heart to and from the shoulders and arms have to travel underneath the clavicle and above the top of the rib cage—through a very narrow space. The presence of an extra rib or hypertrophied muscles of the shoulder or neck can make this tight opening even tighter. This problem, known as thoracic outlet syndrome, is most commonly seen in young athletes who use their upper extremities extensively—baseball pitchers or weightlifters—or in workers who use their arms above the level of their shoulders—painters, wallpaper hangers, or teachers who write on a blackboard. For those with this condition, when the arm is elevated, the extra bone or muscle narrows the space between the two structures and the vessels that travel through them can be blocked. This patient was both a weightlifter and a teacher. He was a perfect setup.

  Duffy set about to confirm his diagnosis and rule out any other cause of the clot. The blood work ruled out paroxysmal nocturnal hemoglobinuria. He got an MRI of the heart, which showed no tumor. An MRI taken while the patient lay with his arms above his head and his head turned away—the maneuver he’d done for Dr. Duffy—showed that one of the large veins carrying blood from the arms back to the heart was partially obstructed. Duffy was right. He referred the patient to a surgeon who had experience with this unusual and difficult surgery and the patient had his first rib removed from each side the following summer. The next winter he was able to stop taking the warfarin. That was four years ago. He’s been symptom-free ever since.

  The value of any test or exam resides in its ability to reliably predict the presence or absence of disease. Many doctors wrote to me, after I published this story, to question the accuracy of the test Tom Duffy had performed, a maneuver known as Adson’s test. I searched the published literature, and these
doctors were right—there was nothing on it. It simply hadn’t been studied. In other words, no one really knows how good the test is.

  On the other hand, the test was fast, convenient. It was easy to perform and carried no risk. One of the doctors who wrote to me about the test offered the following perspective: “Whether Adson’s maneuver is accurate or not hardly matters. The fact is that Duffy thought of the diagnosis—and if the maneuver promotes that, then it’s a good test.”

  And yet if a particular exam is not reliable, how are doctors to judge the results they get? Can their findings be depended on? If the exam suggests the presence of a specific diagnosis, will it pan out? If, instead, it suggests the patient doesn’t have the disease, can we rule it out?

  We know how well many of the various technological tests work. For example, it’s been shown that an ultrasound is less reliable than a CT scan. And doctors can take that into account when they consider the test results—especially if the findings they get don’t support their own diagnostic hunches. But we don’t have that kind of data on many of the tests that make up the physical exam. And even for those for which we do have objective testing, the findings are often not taught. The result is that when we perform the physical exam we have no idea how much faith to put into what we find. That uncertainty can lead to the wrong diagnosis. Far more often it leads doctors to ignore or omit the exam and its findings and skip directly to a test that the physician can feel more confident about.

  “The real problem,” says Dr. Steven McGee, who has collected and reviewed much of the research on the physical exam, “is that there is all this tradition handed down to us and our poor medical students try to learn all of it. Then they find out that some part of it doesn’t work and they throw the whole thing out. The truth is that there is a lot in the physical exam that turns out to be not terribly useful. But there are parts that are essential, even lifesaving.” McGee is part of a growing movement in research to assess the utility of various components of the physical exam.

  The physical exam isn’t perfect, McGee told me, and we are all very much aware of that these days. “Our findings on physical exam feel like shades of gray while test results literally appear in black and white.” When we compare our own uncertainty with the confidence we feel when we look at a piece of paper—well, it’s no wonder we prefer tests. “But what you don’t see on that piece of paper and what we often forget is that these tests in which we have placed our confidence aren’t perfect either.” Take the chest X-ray. How reliable is that? One of the most basic findings we look for in a chest X-ray is the size of the heart—is it normal or is it large? A straightforward question and a chest X-ray should show that clearly enough. Having said that, if the same X-ray is read by more than one radiologist, how often will they agree about this simple finding?

  Statisticians measure agreement using a tool called the kappa statistic. This takes into consideration the fact that sometimes with even random occurrences like flipping a coin, two people will agree or get the same answer merely by chance. To find real agreement rates you have to account for those that occur just by chance. So to use the example of two people flipping a coin, simple chance would have the coins both land on the same side about half the time. If the two coins were in agreement more often or less often, that would be their kappa statistic. You wouldn’t expect any more than 50 percent agreement and so the two coin tossers would be expected to have a kappa statistic of zero. On the other hand, if two individuals were looking at either a red card or a blue card and neither was color-blind, you would expect them to agree virtually all the time. Their kappa statistic would approach 100.

  So how do radiologists do when determining if a heart is a normal size or larger? Their kappa statistic is 48. In other words, once chance agreement is taken into consideration, there’s a good chance the two radiologists will disagree at least some of the time. The same kind of disagreement occurs in other types of radiology—the problems with mammograms have been the most well described. Researchers calculated its kappa statistic as 47. Mammographers agreed with one another about 78 percent of the time. Pathology is another area of notorious disagreements.

  Even laboratory testing is far from perfect. Clostridium difficile is a bacterium that causes severe diarrhea and requires treatment with antibiotics. Diagnosis is confirmed by detecting a toxin produced by the bacteria in the stool. When the test is positive, you can be certain that the patient has the disease. When the test is negative, however, it’s far from clear that the patient doesn’t have this infection. Studies show that up to one third of patients who have the infection will still have a negative test. Because it’s an important diagnosis to make, routine practice in the hospital is to repeat the test up to three times. Only when all three tests are negative can you be certain that the patient doesn’t have this potentially deadly infection.

  What we’ve ended up with, says McGee, is a culture where test results have too much credibility and the good parts of the physical get too little. Neither is good for the patient. And we forget that for many diseases the diagnostic standard is still the physical examination: there is no test better than the physical exam to diagnose Parkinson’s disease or Lou Gehrig’s disease. Same with many dermatologic diseases. We need to weed out the useless components of the exam. Stop teaching those parts, says McGee. The rest can play an important role in diagnosis. We lose our skills, McGee suggests, at our patients’ peril.

  David Sackett, a Canadian physician considered the father of evidence-based medicine, has been one of the strongest advocates of a more evidence-based approach to the physical exam. In the 1990s he started working with the Journal of the American Medical Association to develop a series of articles called the Rational Clinical Exam. Each article in the series asks a question: does this patient have (some disease)? The article reviews the parts of the history and the exam and then provides the doctor with a measure of the test’s accuracy and precision. The first article focused on ascites—fluid in the abdominal cavity. In the intervening years the series has looked at everything from asthma to appendicitis. It’s been enormously successful, devotedly read and cited by physicians long frustrated by the vagaries of the physical exam.

  For example, the gold-standard physical exam to find ascites, I was taught, was the puddle sign. In this exam, you ask the sick patient to get on his hands and knees, as if he were playing horsie with a child. Theoretically the free-flowing ascitic fluid in the abdomen would collect at the lowest part of the belly—the part hanging down. By striking that with your finger you would hear a dull sound if there was fluid there, a tympanic sound if there was only bowel there. It turns out that this embarrassing and uncomfortable test isn’t very useful. What was shown to be a more effective test was to check for fluid when the patient was lying on his back. The patient puts his hand on the middle of his abdomen, holding the subcutaneous fat in place, and the doctor taps sharply on one side of the abdomen while feeling the other side. If there’s fluid in the abdomen, you’ll feel it slosh against the inner wall of the abdomen. If there’s only abdominal fat, you will feel no movement.

  I went to hear Steven McGee speak at a meeting of the American College of Physicians. The large room was filled to capacity. After the introduction, he walked up to the stage, a small man, trim and owlish, with horn-rimmed glasses hiding his eyes. He spoke in a quiet baritone about his own approach to making the physical exam worth doing again. Sometimes, the exam will give you all you need to make a diagnosis. Sometimes, he said, it will tell you what the patient doesn’t have. You just have to know which parts you can depend on. “Who uses Tinel’s test when you’re seeing a patient with hand numbness and tingling?” he asked the audience. Hands appeared across the room. Bad news, he told us. Not a good test. Asking the patient to show you where the symptoms occur on the hand is a better test. Those with carpal tunnel are most likely to point to the thumb and first two fingers. Finding decreased sensation on the thumb and first two fingers is a fast and simple
technique that may help you make that diagnosis.

  His goal, he told his audience, is to help doctors examine patients more confidently and accurately. “Once versed in evidence-based physical diagnosis, clinicians can then settle many important questions at the time and place where they first arise—at the patient’s bedside.”

  When his talk was over I overheard snatches of conversation as the audience left the hall to go to their next lecture. There was excitement, hope, and passionate discussions of the accuracy and validity of favored physical exam tests. As I walked through the double doors into the crowded hallway, I fell behind a group of young doctors and overheard their brief conversation on the talk. One tall, dark-haired young doctor nudged his friend with an elbow and said simply, “As if.” Then laughed. I didn’t see his face, but the meaning was clear: as if this research could change a fait accompli, the death of the physical exam. The others laughed with him. Another in the group said, “Like I’m not going to get the test.” It was an abrupt reminder of the conservative nature of doctors. Changing this new status quo would be a challenge.

  I thought again of my sister-in-law, Joanie, who’d offered to teach me on her own cancer. The gesture suggested she had far more confidence in the diagnostic potential of the physical exam than just about anyone in that lecture hall. Would she care if these skills were just allowed to die? Would she even notice? Can simply updating our armamentarium of physical exam techniques—eliminating those that don’t work, buffing up those that do—be enough to reanimate the corpus of the physical exam? If not, what else might be needed?