If not Arthritis, What Caused This Patient’s Joint Pain?
He had lots of joint pain, he told the doctor. In addition, there were other medical problems that he thought might be related. He had something called a geographic tongue; patches of his tongue would get smooth and red and angry-looking amid the normally velvety pink surface. It looked like a map. Someone told him that this was a sign of psoriasis, a disease of the skin that causes red patches, covered by a silvery, scaly rash. But he didn’t have that. He did have scoliosis — curvature of the spine. And he had osteoporosis, thinned bones, though he was unusually young for that disorder.
When he was a teenager, his lung ruptured — something known as a pneumothorax. It was repaired in the emergency room but then happened again. No one could explain why the lung ruptured in the first place. Indeed, no one could explain any of these medical oddities or even whether they were related.
He told the doctor that his uncle and brother had Crohn’s disease, which usually causes bloody diarrhea but can also make your joints and muscles ache. One doctor thought the man might have it, but the test for the disorder was negative.
Did he have any redness or swelling in the painful joints, the rheumatologist asked. Never, he replied. Any joint stiffness in the morning? None. Had he ever been tested for arthritis, she asked. Many times; the tests were all negative.
The patient was married, had two children (each pretty healthy) and worked as a lawyer, he told the rheumatologist. He didn’t smoke or drink and exercised most days — even when his joints hurt.
Upon examining him, the doctor found a couple of clues. She saw the geographic tongue. She noticed that his fingernails had tiny longitudinal ridges, something that can be normal but is also seen in some types of arthritis. His joints, however, looked normal.
One possibility the rheumatologist was considering was psoriatic arthritis, an aggressive degenerative joint disease seen in some patients who have psoriasis. Though the patient clearly didn’t have psoriasis, the arthritis can precede the rash — sometimes by years. The geographic tongue, the ridged nails, the family history of Crohn’s disease were all seen in this unusual type of arthritis. And if a person does have it, the standard tests for arthritis are often negative.
But patients with psoriatic arthritis usually have joints that are red and warm to the touch and, eventually, become deformed; this man’s looked normal.
The crucial clue came not from the man’s doctor but from his son’s. The 10-year-old went to see his pediatrician, Dr. Renee Brand, for a physical exam. He was slender, like his father. 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 straight? Brand asked. He couldn’t, though he tried. And when the doctor asked him to stand up and bend over so 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 his remarkable flexibility, Brand asked the boy to straighten his legs. When he did, his knees bowed backward. When she asked him to straighten his elbows, they produced a similar curve.
Brand suggested that the boy’s mother take him to see an orthopedic surgeon. After the appointment, the mother called Brand and told her the surgeon recommended that the boy see a geneticist.
What would have geneticist have told about son's condition and how does it related to father's psoriatic arthritis like condition ?
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