Every Patient Tells a Story (2 page)

And why was she yellow? Hepatitis was the most common cause of jaundice in a young person. But the ER physician found no evidence of any of the several viruses that can cause hepatitis. Besides, the blood tests they’d sent to check how well her liver was working were almost normal. And so, they concluded, it wasn’t her liver.

Once Crystal was transferred to the ICU, the doctors there had focused on the bloody diarrhea. She’d had two courses of powerful antibiotics for a dental infection before the diarrhea and fever started. That fit the pattern for an increasingly common infection with a bacterium called
Clostridium difficile
, or
C. diff
., as it’s known around the hospital. The use of antibiotics can set the stage for this bacterial infection of the colon, which causes devastating diarrhea and a severe, sometimes fatal, systemic illness.

The ICU team had looked for the dangerous toxin made by the
C. diff
. bacteria but hadn’t found it. Still, that test can miss up to 10 percent of these infections. In fact, it’s standard practice to retest for the bacterial toxin three times before believing that the disease isn’t present when suspicion for the disease is high. The ICU team started Crystal on antibiotics to treat
C. diff
. anyway—the story of antibiotics followed by bloody diarrhea made that their leading diagnosis.

But Dr. Wagoner, the resident caring for the patient, was unsatisfied with the diagnosis. Too many pieces didn’t seem to fit. The antibiotics and diarrhea made sense but the diagnosis left too many of her symptoms unexplained.

That Friday afternoon—forty-eight hours after Crystal was admitted to the hospital—Wagoner did what doctors often do when faced with a complex case: he reached out to a more experienced physician. Despite all the available technology, the tools doctors often rely on most are the most old-fashioned—a phone, a respected colleague, a mentor or friend.

Dr. Tom Manis was one of the most highly regarded doctors in the hospital. A nephrologist, he was called in because of Crystal’s kidney failure. But as Wagoner presented the patient to the older doctor, it was clear he was hoping that Manis could help them figure out more than just the kidney.

As Manis read through the chart, he too became alarmed. Wagoner was right—this diagnosis didn’t fit well at all. For one thing,
C. diff
. colitis is usually a disease of the sick and elderly. The patient was young and had been healthy. But even more to the point,
C. diff
. wouldn’t account for the profound jaundice and the anemia that persisted despite multiple transfusions. So Manis did what the resident had done—“I called every smart doctor I knew,” and told them each the perplexing tale of Crystal Lessing—again, using those irreplaceable tools, a phone and a friend. One of those friends was Dr. Steven Walerstein, the head of the hospital’s Department of Medicine.

It was early evening by the time Walerstein had a chance to see the patient. He didn’t read her chart. He never did in tough cases like this. He didn’t want to be influenced by the thinking of those who had already seen
her. Far too often in these difficult cases something has been missed, or misinterpreted. And even if they had collected all the pieces, they had clearly put the story of this illness together incorrectly.

Instead he went directly to the patient’s bedside.

Walerstein introduced himself to the young woman and her mother. He pulled up a chair and sat down. Getting the whole story is essential but it can take time. Can you tell me what happened, from the beginning? he asked the sick girl. Like the classic detective in a mystery novel, he asked the victim to go over the crime once more. “I’ve told this story so many times,” Crystal protested. Her voice was thick with fatigue, her words slurred. Couldn’t he just read it in her chart? No, he told her gently but firmly. He needed to hear it from her, needed to put it together for himself. Slowly the girl began telling her story once more. Her mother took up the tale when the girl became confused or couldn’t remember.

Once the two women had gone through the events that brought each of them to the ICU, Walerstein asked the mother for a little more information about her daughter. Crystal had just graduated from college, she told him. She was working as a nanny while she tried to figure out what she wanted to do with her life. She didn’t smoke or drink or use drugs. And she’d never been sick. Never. She roughly brushed away tears as she described her daughter to this kindly middle-aged doctor. He nodded sympathetically. He had a daughter.

Then Walerstein turned back to the young woman in the bed. Her yellow skin was now hot and dry. Her lips were parched and cracked. Her abdomen was distended and soft, but he could feel the firm edge of the liver, normally hidden by the rib cage, protruding a couple of inches below. She moaned again as he put pressure on this tender and enlarged organ.

Only then did he allow himself to look through her chart. He skipped over the notes and buried himself in the myriad abnormal test results that had been collected over her two days in the intensive care unit.

Walerstein was a general internist, admired for his broad knowledge of medicine and his clinical acumen. If he didn’t know the answer right off the bat, he was known to ask questions that would lead to the answer. And
this young woman needed an answer, or she would die. Having thoroughly examined the patient and her chart, Walerstein took a moment to step back and look for some kind of pattern buried in the chaos of numbers and tests.

The ICU doctors had focused on the bloody diarrhea and had gotten nowhere. Indeed, although the girl had seen blood in her stools at home, since arriving at the hospital she had very little diarrhea. It didn’t seem to Walerstein to be the most important of her symptoms. Instead, Walerstein went back to the striking feature that had caught the ER doctor’s eye—her blood would not clot.

The liver makes most of the proteins that cause blood to coagulate. Could it be that her liver was no longer making these proteins?
Could it be that her liver wasn’t working at all?
That would account for both the bleeding and the jaundice. But liver failure is usually marked by dramatic elevations in certain enzymes that are released when liver cells are destroyed, and those enzymes had been nearly normal since she’d come to the hospital. Her doctors had taken that to mean that the liver was not involved in this deadly process.

What if, instead, the liver had already been destroyed by the time Crystal came to the hospital? What if these markers of liver injury (known as transaminases) weren’t elevated because there were no more liver cells left to injure, if all the liver cells had already been destroyed? No one in the Emergency Department or in the ICU had made this leap. And yet if you looked at it in this way, as Walerstein did, everything made perfect sense. It all fit.

He then turned his attention to the profound anemia that had been noted from the start. Despite multiple transfusions, Crystal still had only half as much blood as she should. She was bleeding—her red-tinted urine showed that—but she wasn’t bleeding that much. It was clear that her red blood cells were being destroyed within her body. Deep within her chart there was a test that showed this but Walerstein noted that the team caring for her hadn’t considered this in their search for a diagnosis.

Too often information you don’t initially understand is simply set aside, especially when there is such a wealth of information. Walerstein understood
this phenomenon. And once set aside it’s often forgotten. It happens all the time. But Walerstein also knew that in a difficult case like this one, data that has been set aside often holds the key.

So Crystal had liver failure and red blood cell destruction. That combination stirred something deep within his memory. Walerstein could feel the pieces slowly come together like the cogs in some ancient machine. And then suddenly he knew what this was.

The internist hurried to the library to check his hunch. Yes! He was right. This combination—liver failure and red blood cell destruction—was an unusual manifestation of an unusual inherited illness: Wilson’s disease.

In Wilson’s disease, the liver lacks the machinery to regulate copper, an essential mineral found in the diet. Without these chemical tools, excess copper builds up in the liver and other organs and slowly, insidiously breaks them down. Usually this process takes place over decades, but occasionally, for reasons that are still not understood (though it is often associated with the use of antibiotics, as it was in Crystal’s case), the copper blasts out of the liver—destroying the organ in the process—and a lifetime of the stored mineral floods into the bloodstream. Once there, all hell breaks loose: the copper demolishes red blood cells on contact. The kidneys work hard to clear the cell fragments from the circulation but are gravely injured in the process. Meanwhile the high levels of copper in the bloodstream attack virtually every organ in the body. In this form, the disease is rapidly and universally fatal unless the patient receives the only possible cure—a new liver to replace the one destroyed by the jailbreak of copper, a liver that has the machinery to dispose of the excess mineral. If this was Wilson’s disease, this patient needed a transplant immediately.

But first Walerstein had to confirm the diagnosis. It was late on a Friday night and so it would be impossible to measure the amount of copper in her blood—in any case, his hospital laboratory didn’t even do that test. But there was another way to diagnose this disease. Patients with Wilson’s will often accumulate copper in their eyes—a golden brown ring at the very outermost edge of the iris. Walerstein hurried back to the ICU. He carefully examined the girl’s eyes. Nothing. He couldn’t see the rings, but maybe an
ophthalmologist with his specialized equipment could. “It’s not often that you call the ophthalmologist at nine p.m. on a Friday” to do an emergency examination, Walerstein told me. But he related the girl’s story one more time—this time with a likely diagnosis, if only he could confirm it. “I’m sure he thought I was nuts, until he saw the rings.” As soon as Walerstein had the results, he hurried into the patient’s room to tell the girl and her mother what they’d found.

Crystal Lessing was transferred by helicopter that night to New York–Presbyterian Hospital. Patients with the greatest need get priority in the transplant line. Without a new liver, Crystal would die within days and that put her at the front of the line. She received an organ the following week and survived.

Crystal’s story is every patient’s nightmare: To be sick, even dying, and have doctor after doctor fail to figure out why. To be given the wrong diagnosis, or no diagnosis at all, and to be left to the ravages of disease with nothing more than your own endurance and the doctors’ best-guess therapy to rely on. To live or die in a modern hospital filled with the promise of treatment and yet without a diagnosis to guide its use.

How was Walerstein finally able to make a diagnosis after so many others had failed? How do doctors make these tough diagnoses? Walerstein is modest about his role in the case. “I think I was just lucky enough to know about this rare form of this rare disease. No one can know everything in medicine. I happened to have known about this,” he told me. It’s sometimes a mysterious process—even to the doctors themselves. “A bell went off and the connection was made,” Walerstein told me. “That’s all I know.”

This book is about that bell—how doctors know what they know and how they apply what they know to the flesh-and-blood patient who lies before them. It can be a messy process, filled with red herrings, false leads, and dead ends. An important clue may be overlooked in the patient’s history or examination. An unfamiliar lab finding may obscure rather than reveal. Or
the doctor may be too busy or too tired to think through the case. Even the great William Osler must have had his bad days.

And the patient, by definition sick, frequently tired and in pain, inarticulate with distress, is given the essential task of telling the story that could help a doctor save his life. It’s a recipe for error and uncertainty. It is “an inferential process, carried out under conditions of uncertainty, often with incomplete and sometimes inconsistent information,” says Jerome Kassirer, former editor of the
New England Journal of Medicine
and one of the earliest and most thoughtful modern writers on this unruly process.

It’s a wayward path to an answer filled with unreliable narrators—both human and technological—and yet, despite the unlikeliness, that answer is often reached and lives are saved.

Often, but not always. The possibility of error is ever present.

It’s certainly not news that medical errors are common. In 1999 the National Institutes of Health (NIH), Institute of Medicine, released a report on the topic—
To Err Is Human
. In that now famous report the authors concluded that there were up to 98,000 patient deaths due to medical errors every year—the same number of deaths we would see if a jumbo jet crashed every day for a year. That set off a national effort to reduce the rate of errors in medicine that is still bearing fruit.

That report did not look at errors in diagnosis. And yet errors in diagnosis make up a large chunk of the errors made in medicine. Depending on which study you believe, it is the first or second most common cause of medical lawsuits. Studies suggest that between 10 and 15 percent of patients seen in primary care specialties—internal medicine, family medicine, and pediatrics—are given an incorrect diagnosis. Often the error has no effect—people get better on their own or return to their doctor when the symptoms get worse—but doctors and patients alike worry about the possibility of a diagnostic error that hurts or even kills. In a study of over thirty thousand patient records, researchers found that diagnostic errors accounted for 17 percent of adverse events.

Doctors are getting better at making diagnoses. Tests and imaging have made possible diagnoses that were in earlier times only knowable at autopsy. And while postmortem studies done in this country suggest that the rate
of unsuspected diagnoses has been remarkably stable over the past several decades, that statistic is skewed by the diminishing number of autopsies performed. A study done at the University Hospital in Zurich, Switzerland, where there is a 90 percent autopsy rate, shows that over the past few decades the number of missed or erroneous diagnoses has steadily dropped. Another study done for the Agency for Healthcare Research and Quality (the AHRQ, a research arm of the NIH) shows a similar trend in this country if you account for the ever shrinking pool of autopsies.