Warning: This is a long post. Good luck!
Dr. Jerome Groopman's new book, How Doctors Think, has been getting a lot of attention lately. The CBS Evening News, which covered it last Friday, plans to follow-up on it this week at its website.
One of Groopman's concerns is the diagnostic stage of the patient-doctor relationship. He estimates that doctors tend to give patients a meager 18 seconds to tell their stories before cutting them off. He also figures that "Fifteen to 20 percent of all people are misdiagnosed in the United States." Noting that "In half of those cases it causes serious harm — and sometimes death," he says that it's time for a "national conversation." Part of that conversation clearly should include celiac diagnostics, since (if I'm figuring correctly) people with celiac disease seem to account for about six percent of all misdiagnosed/undiagnosed Americans.
The introduction to How Doctors Think illustrates the ramifications of one misdiagnosis compounded many times over a series of years. It is a case study of a thirtysomething woman Groopman calls Anne Dodge. Here are some excerpts, picked up from the NPR website:
Around age twenty, she found that food did not agree with her. After a meal, she would feel as if a hand were gripping her stomach and twisting it. The nausea and pain were so intense that occasionally she vomited. Her family doctor examined her and found nothing wrong. He gave her antacids. But the symptoms continued. Anne lost her appetite and had to force herself to eat; then she'd feel sick and quietly retreat to the bathroom to regurgitate. Her general practitioner suspected what was wrong, but to be sure he referred her to a psychiatrist, and the diagnosis was made: anorexia nervosa with bulimia, a disorder marked by vomiting and an aversion to food....Yes, I know you know what Anne's real condition is. I figure you figured it out in about 15 seconds. But it took Anne 15 years and consultations with about 30 different doctors before she finally got an accurate diagnosis of celiac disease from Dr. Z. Myron Falchuk of Beth Israel Deaconness, where Groopman also works.
Over the years, Anne had seen many internists for her primary care before settling on her current one, a woman whose practice was devoted to patients with eating disorders. Anne was also evaluated by numerous specialists: endocrinologists, orthopedists, hematologists, infectious disease doctors, and, of course, psychologists and psychiatrists. She had been treated with four different antidepressants and had undergone weekly talk therapy. Nutritionists closely monitored her daily caloric intake.
But Anne's health continued to deteriorate, and the past twelve months had been the most miserable of her life. Her red blood cell count and platelets had dropped to perilous levels. A bone marrow biopsy showed very few developing cells. The two hematologists Anne had consulted attributed the low blood counts to her nutritional deficiency. Anne also had severe osteoporosis. One endocrinologist said her bones were like those of a woman in her eighties, from a lack of vitamin D and calcium. An orthopedist diagnosed a hairline fracture of the metatarsal bone of her foot. There were also signs that her immune system was failing; she suffered a series of infections, including meningitis. She was hospitalized four times in 2004 in a mental health facility so she could try to gain weight under supervision.
To restore her system, her internist had told Anne to consume three thousand calories a day, mostly in easily digested carbohydrates like cereals and pasta. But the more Anne ate, the worse she felt. Not only was she seized by intense nausea and the urge to vomit, but recently she had severe intestinal cramps and diarrhea. Her doctor said she had developed irritable bowel syndrome, a disorder associated with psychological stress. By December, Anne's weight dropped to eighty-two pounds. Although she said she was forcing down close to three thousand calories, her internist and her psychiatrist took the steady loss of weight as a sure sign that Anne was not telling the truth.
Slow diagnoses--of, say, nine or ten years after worrisome manifestations come to the attention of a doctor, are common among people with celiac disease.
Falchuk, a gastroenterologist with a specialty in celiac disease, discussed his diagnosis of Dodge with Groopman.
"She was emaciated and looked haggard," Falchuk told me. "Her face was creased with fatigue. And the way she sat in the waiting room — so still, her hands clasped together — I saw how timid she was." From the first, Falchuk was reading Anne Dodge's body language. Everything was a potential clue, telling him something about not only her physical condition but also her emotional state. This was a woman beaten down by her suffering. She would need to be drawn out, gently....Now, I think it's great that Falchuk was able to spend so much time with his patient and make the connection between her story and undiagnosed celiac disease. I totally approve of a doctor really paying attention to a patient. But, as I indicated above, I'm also sure that, in Dodge's case, possible celiac disease would leap to the mind of anyone who, like Falchuk, would be familiar with the current research, including the fact that it has been misdiagnosed or undiagnosed so dramatically in the United States. Doctors should listen...and they also should know.
Falchuk ushered Anne Dodge into his office, his hand on her elbow, lightly guiding her to the chair that faces his desk. She looked at a stack of papers some six inches high. It was the dossier she had seen on the desks of her endocrinologists, hematologists, infectious disease physicians, psychiatrists, and nutritionists. For fifteen years she'd watched it grow from visit to visit.
But then Dr. Falchuk did something that caught Anne's eye: he moved those records to the far side of his desk, withdrew a pen from the breast pocket of his white coat, and took a clean tablet of lined paper from his drawer. "Before we talk about why you are here today," Falchuk said, "let's go back to the beginning. Tell me about when you first didn't feel good."
For a moment, she was confused. Hadn't the doctor spoken with her internist and looked at her records? "I have bulimia and anorexia nervosa," she said softly. Her clasped hands tightened. "And now I have irritable bowel syndrome."
Falchuk offered a gentle smile. "I want to hear your story, in your own words."
Anne glanced at the clock on the wall, the steady sweep of the second hand ticking off precious time. Her internist had told her that Dr. Falchuk was a prominent specialist, that there was a long waiting list to see him. Her problem was hardly urgent, and she got an appointment in less than two months only because of a cancellation in his Christmas-week schedule. But she detected no hint of rush or impatience in the doctor. His calm made it seem as though he had all the time in the world.
So Anne began, as Dr. Falchuk requested, at the beginning, reciting the long and tortuous story of her initial symptoms, the many doctors she had seen, the tests she had undergone. As she spoke, Dr. Falchuk would nod or interject short phrases: "Uhhuh," "I'm with you," "Go on."
Occasionally Anne found herself losing track of the sequence of events. It was as if Dr. Falchuk had given her permission to open the floodgates, and a torrent of painful memories poured forth. Now she was tumbling forward, swept along as she had been as a child on Cape Cod when a powerful wave caught her unawares. She couldn't recall exactly when she had had the bone marrow biopsy for her anemia.
"Don't worry about exactly when," Falchuk said. For a long moment Anne sat mute, still searching for the date. "I'll check it later in your records. Let's talk about the past months. Specifically, what you have been doing to try to gain weight."
This was easier for Anne; the doctor had thrown her a rope and was slowly tugging her to the shore of the present. As she spoke, Falchuk focused on the details of her diet. "Now, tell me again what happens after each meal," he said.
Anne thought she had already explained this, that it all was detailed in her records. Surely her internist had told Dr. Falchuk about the diet she had been following. But she went on to say, "I try to get down as much cereal in the morning as possible, and then bread and pasta at lunch and dinner." Cramps and diarrhea followed nearly every meal, Anne explained. She was taking anti-nausea medication that had greatly reduced the frequency of her vomiting but did not help the diarrhea. "Each day, I calculate how many calories I'm keeping in, just like the nutritionist taught me to do. And it's close to three thousand."
Dr. Falchuk paused. Anne Dodge saw his eyes drift away from hers. Then his focus returned, and he brought her into the examining room across the hall. The physical exam was unlike any she'd had before. She had been expecting him to concentrate on her abdomen, to poke and prod her liver and spleen, to have her take deep breaths, and to look for any areas of tenderness. Instead, he looked carefully at her skin and then at her palms. Falchuk intently inspected the creases in her hands, as though he were a fortuneteller reading her lifelines and future. Anne felt a bit perplexed but didn't ask him why he was doing this. Nor did she question why he spent such a long while looking in her mouth with a flashlight, inspecting not only her tongue and palate but her gums and the glistening tissue behind her lips as well. He also spent a long time examining her nails, on both her hands and her feet. "Sometimes you can find clues in the skin or the lining of the mouth that point you to a diagnosis," Falchuk explained at last.
He also seemed to fix on the little loose stool that remained in her rectum. She told him she had had an early breakfast, and diarrhea before the car ride to Boston.
When the physical exam was over, he asked her to dress and return to his office. She felt tired. The energy she had mustered for the trip was waning. She steeled herself for yet another somber lecture on how she had to eat more, given her deteriorating condition.
"I'm not at all sure this is irritable bowel syndrome," Dr. Falchuk said, "or that your weight loss is only due to bulimia and anorexia nervosa."
She wasn't sure she had heard him correctly. Falchuk seemed to recognize her confusion. "There may be something else going on that explains why you can't restore your weight. I could be wrong, of course, but we need to be sure, given how frail you are and how much you are suffering."
Anne felt even more confused and fought off the urge to cry. Now was not the time to break down. She needed to concentrate on what the doctor was saying. He proposed more blood tests, which were simple enough, but then suggested a procedure called an endoscopy. She listened carefully as Falchuk described how he would pass a fiberoptic instrument, essentially a flexible telescope, down her esophagus and then into her stomach and small intestine. If he saw something abnormal, he would take a biopsy. She was exhausted from endless evaluations. She'd been through so much, so many tests, so many procedures: the x-rays, the bone density assessment, the painful bone marrow biopsy for her low blood counts, and multiple spinal taps when she had meningitis. Despite his assurances that she would be sedated, she doubted whether the endoscopy was worth the trouble and discomfort. She recalled her internist's reluctance to refer her to a gastroenterologist, and wondered whether the procedure was pointless, done for the sake of doing it, or, even worse, to make money.
Dodge was about to refuse, but then Falchuk repeated emphatically that something else might account for her condition. "Given how poorly you are doing, how much weight you've lost, what's happened to your blood, your bones, and your immune system over the years, we need to be absolutely certain of everything that's wrong. It may be that your body can't digest the food you're eating, that those three thousand calories are just passing through you, and that's why you're down to eighty-two pounds."
When I met with Anne Dodge one month after her first appointment with Dr. Falchuk, she said that he'd given her the greatest Christmas present ever. She had gained nearly twelve pounds. The intense nausea, the urge to vomit, the cramps and diarrhea that followed breakfast, lunch, and dinner as she struggled to fill her stomach with cereal, bread, and pasta had all abated. The blood tests and the endoscopy showed that she had celiac disease. This is an autoimmune disorder, in essence an allergy to gluten, a primary component of many grains. Once believed to be rare, the malady, also called celiac sprue, is now recognized more frequently thanks to sophisticated diagnostic tests. Moreover, it has become clear that celiac disease is not only a childhood illness, as previously thought; symptoms may not begin until late adolescence or early adulthood, as Falchuk believed occurred in Anne Dodge's case. Yes, she suffered from an eating disorder. But her body's reaction to gluten resulted in irritation and distortion of the lining of her bowel, so nutrients were not absorbed. The more cereal and pasta she added to her diet, the more her digestive tract was damaged, and even fewer calories and essential vitamins passed into her system.
For those among us who are schooled on the subject, it would take 15 seconds--not 15 years--to at least suspect celiac disease. [As noted in the previous post, even doctors have trouble getting correct diagnoses.] If doctors and policy makers are to help the millions of undetected cases currently in the United States, their awareness and alertness must reach that kind of level.
Thank you if you made it this far!