Think Like a Doctor: Hurting All Over Solved

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On Thursday, we challenged Well readers to figure out the case of a 36-year-old man with a 20-year history of migrating joint pains along with other strange symptoms. Nearly 300 of you offered thoughtful suggestions of what he might have had. And one out of 10 of you were spot on.

The correct diagnosis is:

Ehlers Danlos syndrome

The first reader to correctly make this diagnosis was Bryley Williams, of New York City. She told me she knows nothing about medicine but found the answer on the Internet by investigating noninflammatory causes of joint pain and pneumothorax. All of the winners of this contest are extraordinary, but I think Ms. Williams may take the prize. She is 15 years old, a freshman in high school in New York City. Well done, Ms. Williams! Maybe you should consider a career in medicine once you graduate.

The Diagnosis

Ehlers-Danlos syndrome, or EDS, is a group of inherited disorders that affect the body’s connective tissues – the skin, muscles, tendons and ligaments that hold us together. Since the 1990s, the disease has been divided into six main types, depending on which connective tissues are most affected. Based on the gene study done in this patient, he was given a diagnosis of the least severe and most common variety, which primarily causes hypermobility of the joints as well as skin that is easily damaged and scars badly.

EDS was probably recognized as early as 400 B.C., when Hippocrates noted that the nomads and Scythians had lax joints and multiple scars. This disorder came to more modern medical attention in the 17th century when, at a medical presentation in Holland, a Spanish sailor by the name of George Albes exhibited his remarkable ability to stretch the skin on his chest out an arm’s length.

The first complete description of the condition was given by a Russian physician, Dr. A. N. Chernogubov, at the end of the 19th century. He presented a 17-year-old boy who suffered from recurrent joint dislocations and easily stretched and fragile skin. The boy had many scars resulting from minor injuries, because these patients do not heal normally. Based on these observations, Dr. Chernogubov predicted that the clinical manifestations were caused by an abnormality of the connective tissues.

That report did not come to the notice of Western Europe for many years. So while the disorder still carries Chernogubov’s name in Russia, in most places it referred to as EDS, after the two physicians who first characterized the disorder in Paris decades later: Dr. Edvard Ehlers and Dr. Henri-Alexandre Danlos.

How the Diagnosis Was Made

The patient, a 36-year-old man with a 20-year history of migrating joint pain, had been to dozens of doctors – internists, orthopedic surgeons, rheumatologists. All had examined him and seen nothing. Indeed, his last rheumatologist kept saying that she wanted to believe that he had this much pain but that she couldn’t find anything physical to cause it.

One orthopedist had asked him if his skin was particularly stretchy or if he was very flexible – obviously thinking of a diagnosis like Ehlers-Danlos syndrome, but the patient said no. He didn’t think he was particularly flexible or that his skin was unusually stretchy. Later, once he had the diagnosis, he showed one of his doctors how he could move his thumb, and the doctor told him that he was popping it in and out of joint. And the geneticist told him that his skin was stretchy enough to fit the diagnostic criteria. Still, it all seemed normal to him. Not extraordinary in any way.

Still, after 20 years of searching, the patient was finally willing to accept that he was just more prone to getting these pains. And he began keeping a list of the types of exercises or activities that seemed most likely to trigger the episodes of joint pain. His wife was unwilling to give up. She continued to search the Internet for answers.

Like Son, Like Father?

The final clue came not from the man’s doctor but from his son’s. The boy, age 11, went to see his pediatrician, Dr. Renee Brand, for his annual physical exam. He was tall and slender, like his father. He had a colt-like awkwardness about him, with arms and legs that looked just a bit too long to be well managed. And he had a stooped posture, as if he spent too much time gazing into a smartphone he didn’t even have. Could he sit up completely straight? Dr. Brand asked. He couldn’t, though he tried.

Later the doctor asked him to bend over so that she could check his spine for scoliosis. He immediately flopped down, his chest almost touching his knees and his hands lying flat on the floor in front of him. Surprised by this remarkable degree of flexibility, Dr. Brand asked another questions. Could he press his thumb down and forward so that he could touch his own forearm with his thumb? He pressed the digit down toward his wrist and, sure enough, was able to make them meet easily.

I think maybe you should take him to see an orthopedic surgeon, Dr. Brand suggested to the boy’s mother. Two weeks later the mom called Dr. Brand with a report. She’d taken the boy to see the surgeo,n and he had in turn recommended that she take him to see a geneticist.

“I thought so,” replied Dr. Brand with satisfaction. Seeing how remarkably flexible the young man was, and how hard it was for him to stand up straight, Dr. Brand thought the boy might have a disorder known as Ehlers-Danlos syndrome.

Getting a Diagnosis

After making the appointment with the geneticist, the boy’s mother sat down at the computer to read up on Ehlers-Danlos. As she read through the descriptions, she could definitely recognize her son. But in those pages she also recognized her husband. Joint pain, check; pneumothorax, check; osteoporosis, check; scoliosis, check. Ultimately this inherited disease was diagnosed in both father and son.

There’s no cure for EDS, but it’s important to know that you have it. The son sees a cardiologist every couple of years, since EDS can lead to problems with heart valves and vessels. He was found to be at risk for a dangerous stretching of his aorta that, without repair, could lead to rupture. And both father and son now understand which exercises are going to be a problem for them – possibly causing joint dislocations or other musculoskeletal injuries.

Not Just ‘Crazy’

For the father, our patient, it’s meant a sacrifice that may sound trivial, but meant a lot to him: He’s had to give up running, his favorite form of exercise. The pounding is just too hard on his joints.

“I kept hoping that I could find a kind of physical therapy that would help me run the way I used to. Now I know I just can’t,” he said. Still, it’s a relief to be able to give a name to his mysterious problems. “It’s proof that I’m not just crazy.”