Think Like a Doctor: Hurting All Over

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The Challenge: Can you figure out what is wrong with a 36-year-old man who has had body aches for many years?

Every month, the Diagnosis column of The New York Times Magazine asks Well readers to try to figure out a real-life diagnostic mystery. Below you will find the details of a case involving a middle-aged man with pains that seem to migrate from one joint to the next with no visible sign of injury.

The route to the final diagnosis was particularly circuitous. Below, I provide most of the records that were available when the diagnosis was made. As usual, the first person to solve the case gets a signed copy of my book, “Every Patient Tells a Story,” and the pleasure of puzzling out a difficult mystery.

Making a List

“Why don’t we make a list?” the young man’s wife suggested. Her husband, tall and slender, had been moving restlessly around the kitchen, but when he heard her words, he came and sat next to her. He was 36 and, for the past 20 years, had been plagued by pains that moved from one joint to the next. Sometimes it was an ankle; sometimes a knee. It could be his back or his hand or his wrist. And sometimes it was all of the above.

Over the years he’d seen a phalanx of doctors. They’d look him over, order an X-ray and then, seeing nothing, refer him to physical therapy. And he’d get better.

But then, within days or occasionally even weeks, something else would start up.

It didn’t seem right, his wife had said, over and over, during their years together. There had to be something else going on. Something bigger than whichever joint was hurting at the moment.

The Patient’s Story

The man had seen internists, orthopedists, rheumatologists. But after various thoughts and tests, none had seen a pattern that suggested anything more than the misfortune of frequent exercise-related injuries.

His wife had Googled his symptoms many times, but the only diagnosis she ran across regularly was fibromyalgia, a chronic pain syndrome. When she read up on that condition, though, it just didn’t seem to fit. Her husband sometimes had muscle pain, a characteristic of fibromyalgia, but most of the time his pain was in the joints themselves.

The patient had resigned himself to these aches and pains. His wife, however, had not. A friend of hers who’d suffered a lifetime of joint pain was recently given a diagnosis: rheumatoid arthritis. And that friend had enthusiastically recommended the doctor who had figured it out, a specialist in inflammatory diseases at Mount Sinai Hospital in Manhattan. Call her, her friend urged. She figured out a diagnosis that had puzzled others for years.

So she called. When her husband’s appointment was a week away, she suggested that they put together a list of everything odd that had happened to him. She could start the list, and he could add anything she left out.

An Expert Opinion

The day of the appointment, the wife tore the list out of her notebook and handed it to her husband. Don’t forget to show this to the doctor, she urged.

The man looked up when he heard his name called in the waiting room. The doctor smiled warmly as she walked toward him. She introduced herself and led him into the tiny exam room in the back. When she asked him about his medical history, he brought out his list.

In addition to his migrating joint pain, he’d had several other unusual medical problems that might be related. Most recently he’d been given a diagnosis of von Willebrand disease, a disorder of the blood coagulation system. He found that out after nearly bleeding to death following a colonoscopy.

He also had something called a geographic tongue. It wasn’t painful but looked odd. Areas of the tongue surface somehow are injured, leaving smooth, red, angry-looking patches amid the tongue’s normally velvety pink surface. Someone had told him that geographic tongue was a sign of psoriasis, but psoriasis typically causes a scaly skin rash, and he’d never had that. Plus he had scoliosis, or a curvature of the spine. He also had osteoporosis, even though everyone agreed he was way too young.

His symptoms dated back some 20 years. As a teenager, his lung had suddenly ruptured, a condition known as a pneumothorax. Doctors had fixed the collapsed lung, but then it happened again. That second time they’d fixed it permanently. No one could explain why that happened.

Indeed, no one could explain any of his weird medical problems.

Other people in his family were sick, but not in the same way. His mother and brother had Crohn’s, a form of inflammatory bowel disease. Crohn’s disease usually causes bloody diarrhea, but it can also make your joints and muscles ache, so one of his doctors suspected he might have it too. That’s why the patient had been given that colonoscopy that had gone wrong. But it turned out he didn’t have Crohn’s.

Normal Joints

Any redness or swelling in his painful joints?, the rheumatologist asked. Never, he told her.

Any joint stiffness in the morning? None.

Had he ever been tested for arthritis?, she asked. Oh, many times, he replied. The tests had all been negative.

He never smoked, never drank, never used any illegal drugs. He hardly even took Tylenol. He was vegan and took vitamin B12 daily to make certain he didn’t run out of this essential nutrient, which is found in meats. He was married, had two children (both pretty healthy) and worked as a lawyer. He exercised most days, even when his joints hurt.

On exam, the doctor found a few clues. There was the geographic tongue he’d already told her about. And his fingernails had tiny longitudinal ridges, something that can be normal but that is also seen in certain types of arthritis. However, his joints, the source of his main complaint, seemed completely normal. There was a little bit of tenderness in the sacroiliac joint, where the two bones that make up the hip girdle meet. However, even here there was no redness, no swelling, nothing abnormal.

A Confusing Picture

Whatever the patient had, it certainly wasn’t obvious, the rheumatologist told him once he’d gotten dressed.

One possibility she was considering was a condition called psoriatic arthritis, or PsA, an unusual and aggressive type of inflammatory arthritis that can affect people with psoriasis. The geographic tongue, the ridged nails, the family history of Crohn’s disease were all seen in psoriatic arthritis. And in PsA, the usual tests for arthritis will be negative.

But it wasn’t a slam dunk. The patient clearly didn’t have psoriasis — at least not yet. But the arthritis could precede the skin rash, sometimes by years. And although most people with psoriatic arthritis have pain, swelling and redness as well as severe bone destruction, some have only mild symptoms, like this man.

She’d get some blood tests to look for inflammation, she told the patient, and gets X-rays to look for the kind of bony destruction psoriatic arthritis can cause. But even if those tests weren’t informative, she planned to start him on a very gentle medicine that was effective in reducing the pain and joint destruction.

A Drug Trial

The blood tests and X-rays were unrevealing, and so at the next visit she started the patient on sulfasalazine, one of the oldest drugs used to treat both inflammatory arthritis and inflammatory bowel diseases (like Crohn’s).

He took the drug for three months. No relief. She gave it another few weeks. Still, nothing. Perhaps this wasn’t an inflammatory arthritis after all.

There was one final treatment she could try. If he didn’t respond to a week of daily prednisone, a steroid pill, he wasn’t likely to respond to any of the other anti-inflammatory medications used in the treatment of these diseases.

The steroid did nothing but keep him awake at night. The constant roving joint pains continued unabated.

The doctor was disappointed but clear. Whatever he had, it wasn’t an inflammatory disease. She was sorry, but she didn’t think she could help him.

You can view the rheumatologist’s notes here.

Rheumatology Notes

These are the doctor’s notes.

You can view the lab results here.

The Patient’s Labs

Here is a copy of the lab report.

Solving the Mystery

The patient was discouraged but not surprised. Yet another doctor was unable to figure out why he had all these weird problems. His wife was crushed. This doctor had figured out what was wrong with her friend; why not her husband? Maybe it was just fibromyalgia. Or just really bad luck.

But the patient did end up getting a diagnosis. From an unexpected quarter. Can you figure out what this patient has?

The first person to figure out the diagnosis will get a signed copy of my book, and that great feeling you get which you solve a tough case.

I’ll post the answer tomorrow.

Rules and Regulations: Post your questions and diagnosis in the comments section below. The correct answer will appear Friday on Well. The winner will be contacted. Reader comments may also appear in a coming issue of The New York Times Magazine.