'Will you please see my sister?' the young woman asked Dr. David Podell, who was a friend of a friend and had a reputation as a kinder version of TV's Dr. Gregory House. People told her that Podell was a doctor who specialized in diagnosing odd diseases, and she hoped he might finally solve the puzzle of her older sister's mysterious illness.
1. THE PATIENT'S STORY
Over the past 10 years, the patient — now 33 — became completely disabled by strange pains and odd episodes of weakness that no one could explain. The sister handed Podell a letter from the patient. "I am very desperate for help," she wrote, "and I am struggling every day all day without relief. I have heard you are the best, and if there is help out there, you are the one who will find it. . . . Please give me back my future."
Podell wasn't sure he could help but wanted to try. The patient, however, lived in Ohio, and Podell was in Middlebury, Conn. If she were going to travel, Podell told the sister, he wanted to make sure that he could do something for her. He would need copies of her medical records and recent test results, and he would need to talk with her before he saw her.
That weekend, Podell called the woman. Her voice was soft and high-pitched and sounded younger than her 33 years. She told him that her whole life had been one of near-constant pain. It became unbearable when she was pregnant and developed crippling back pain. Now, seven years after her daughter was born, her entire body ached almost all the time.
Her joints hurt, she told him. So did her muscles, even her skin. She was tired yet couldn't sleep. She had frequent migraine headaches. She had irritable bowel syndrome. She was severely depressed. She had fibromyalgia, anemia, endometriosis.
Recently she had episodes during which she would lose her strength on one side of her body. The first time it happened, it was just her left arm. She went to the emergency room, where a doctor was worried that she'd had a stroke. But a CT scan of her head was normal. Her strength returned within days. She had seen so many doctors, and no one knew what was wrong. Her voice broke on the phone. He could hear her sobbing quietly.
3. THE DOCTOR'S STORY
Podell is a rheumatologist — a specialist in diseases of the tissues that hold the body together — bones, muscles, tendons. He sees a lot of people who have pain all over their bodies. But he was worried about seeing this patient. "She'd put all her eggs in my basket," he told me. "And I didn't want to drop it." So in addition to having her doctor send him all the studies she had so far, he wanted her to get other tests — lots of tests. He was determined not to miss this diagnosis. "I went for the zebras," he said, meaning rare diseases, "because frankly, after all the doctors she's seen, I was pretty sure all the horses had already been looked at."
4. POSSIBLE DIAGNOSIS
Podell has a list of unusual diseases that he considers in patients who have this kind of diffuse pain. The list includes hepatitis B and C; Lyme disease; Sjogren's syndrome (which affects the glands that produce tears and saliva); lupus and other diseases of the connective tissues; H.I.V.; thyroid disease; celiac disease (which affects the digestive system and is triggered by foods containing gluten).
5. TEST RESULTS
The patient's doctor in Ohio sent records from the past two years. The patient had seen two pain specialists, a gastroenterologist and an allergist. She had been scoped, X-rayed and CT scanned. She'd been stuck for blood and pricked for allergies. Most of the tests were unrevealing. But two stood out: in 2009, two blood tests were performed for celiac disease, and both were positive.
Then results from tests that Podell ordered started to arrive. As before, most were unrevealing, with the sole exception of those testing for celiac disease, which were strongly positive. Podell was excited, but a blood test is not a diagnosis, he knew. False positives are not unusual, so generally a biopsy of the small intestine is recommended. The patient hadn't had one. In addition, the patient saw a gastroenterologist earlier that year, and he didn't even mention celiac in his note. Had it already been ruled out somehow?
6. THE EXAM
Three weeks after they spoke on the phone, the patient came to Podell's office, accompanied by her mother and the sister who had made the arrangements. As they exchanged pleasantries, Podell quietly began his examination. The first thing he noticed was that the patient was much smaller than her sister and mother. She was only 4-foot-9. Otherwise she looked well. He listened carefully as the three women told him about the woman's years of pain.
While the patient undressed for the physical, Podell hurried to his office to read up on the ways celiac disease affects the body. He knew that short stature, abdominal pain and diarrhea were associated with the disease. What else? The list he found was long: neuropathic pain, headaches, psychiatric disorders, iron deficiency, vitamin D deficiency — she had all of these.
Podell examined the woman, and she was extremely tender; everywhere he touched was painful — especially her muscles and skin.
Podell then asked what might have been his most important question: Had she ever tried a gluten-free diet? If she had but hadn't improved, that would make celiac disease very unlikely. The patient said she had tried the diet. After the positive test two years earlier, she gave up pasta and bread for a month or so. But she didn't feel any better, so her doctor said to forget it. Podell smiled. She hadn't really been on a gluten-free diet. Even small amounts of gluten in, say, cereal or baked goods would make her sick. This was celiac disease. He would bet on it.
8. CELIAC DISEASE
Celiac is an inherited disease of the small intestine that causes abdominal pain, diarrhea and an inability to absorb nutrients. When affected individuals are exposed to gluten — a very common protein found in cereals and grains — they develop antibodies that attack the lining of the small intestine. Once the absorptive lining is injured, the small intestine can't do its job of taking up nutrients from food. The undigested foods go on to cause abdominal pain, bloating and diarrhea. This patient had some of these digestive symptoms, but mostly she had pain — nerve pain, muscle pain, headaches, depression. These are also seen in patients with celiac disease. What causes these other symptoms isn't known.
Podell sent the patient to a nutritionist to learn the fundamentals of the celiac diet. She has been disciplined about eating gluten-free for nearly three months. She has more energy and less pain, and she's back at work — not quite full time, but she's getting there.
I asked Podell why the patient did so much better this time than she did two years ago, when celiac was suggested as a possibility. He said that maybe her doctors didn't really think she had celiac, and so she didn't think she had it either. "I was very enthusiastic about this diagnosis. And I thought she really had it. So maybe it was the nonscientific component — the salesmanship — that made her try and stay with it."
This case is a reminder of an important precept in medicine: a diagnosis isn't really final until it is embraced by both the patient and the doctor. That's the real art of diagnosis and an essential part of the cure.