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Persistent John Mann acted as the symphony conductor in getting to the root of patient Neil Furst’s terrible pain.
Persistent John Mann acted as the symphony conductor in getting to the root of patient Neil Furst’s terrible pain.


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The Mystery of the Agonizing Back

Physicians sorting through vital signs, test results and hard-to-read symptoms in search of a diagnosis often get compared to detectives. Still, last autumn, when Neil Furst, a 54-year-old government worker from Washington, D.C., knocked on the door of much-touted Baltimore internist John Mann, it never entered his mind that he might be signing on with a private eye. Furst just wanted help.

He’d seen nine doctors, undergone manifold rounds of testing, taken anti-inflammatory drugs and received physical therapy while looking for relief from debilitating back and chest pain that had turned getting up from a chair into heavy labor and walking to the front yard for the morning paper into a torturous trip. But after a year, the root of Furst’s agony remained a puzzle.

Mann, a part-time Johns Hopkins faculty member, at first was as confounded as his predecessors had been. The patient had none of the usual signs that go with his kind of pain—joint or muscle inflammation, fever, weight loss or gastrointestinal problems. A CT scan, however, had shown a cyst on his liver, liver function tests had proved slightly abnormal and a bone scan revealed lesions on the ribs. “Everyone’s main concern was that he had some kind of cancer,” Mann says, “but an extensive search of all the organs in the abdomen showed nothing.”

John Mann, however, is a great believer in the teachings of the legendary Hopkins internist Philip Tumulty, who professed that internists must act as sort of symphony conductors as they carry out their investigations to come up with a diagnosis. So, tapping into the expertise of an array of Hopkins specialists, he proceeded to explore everything that could possibly cause bone pain. At first, for instance, the severity of Furst’s spinal distress led him to suspect the crippling arthritic condition ankylosing spondylitis, an inflammation of the joints between the vertebrae in the spine, but rheumatologist David Hellmann, M.D., examined the patterns on the patient’s MRI scan with a radiologist and ruled against that diagnosis.

Cracking the Case: (Left to right, top to bottom) 1. Rheumatologist David Hellmann ruled out one diagnosis; 2. Bone Pathologist Ed McCarthy identified the patient’s rare disease; 3. Surgeon Richard Heitmiller performed the conclusive bone biopsy; 4. Surgeon Julie Lange suggested using the gamma probe for the biopsy, and 5. Endocrinologist Michael Levine prescribed the treatment that finally ended the pain.

Once more, Mann went back to his patient’s chart, and this time he noticed that nobody had ever measured Furst’s parathyroid hormone (PTH) level, which controls the amount of calcium and phosphorous in the blood. And here the internist found the clue that would eventually crack the case. Furst, it turned out, had an elevated PTH (and low phosphorous), which, Mann explains, “made me think about the possibility of a disturbance in the metabolic activity of the bone.”

A high PTH, Mann learned, can signal osteomalacia, an unusual, painful softening of the bones caused by vitamin D deficiency. But unable to explain the patient’s normal vitamin D level, he took the chart to bone path-ologist and orthopedic surgeon Edward McCarthy, M.D., an expert in metabolic bone disease. Within minutes, McCarthy had zeroed in not on the PTH but on the reduced phosphorous level along with the cyst on the patient’s liver and proposed a diagnosis. This patient, McCarthy felt quite certain, had a condition familiar to only a handful of physicians in the world—oncogenic osteomalacia. The disorder occurs when a usually benign cyst secretes a chemical called phosphotonin, causing the body to lose phosphorous—vital in the formation of bone minerals. The bones then demineralize, and the muscles grow weak.

To clinch the diagnosis as well as conclusively rule out bone cancer, Mann asked surgeon Richard Heitmiller, M.D., to biopsy one of the lesions found on Furst’s ribs. Such patches, however, are hard to locate even though they may be clearly visible on bone scans as “hot spots.” Heitmiller, therefore, took the suggestion of oncologic surgeon Julie Lange, M.D., injected the patient with a radioactive tracer and ran a gamma probe over his body. As the probe reached the lesion, it began pulsing like a Geiger counter, signaling the spot where Heitmiller should remove a small section of bone.

In the lab, McCarthy quickly measured the metabolic activity of the biopsied rib with a computer, declared it cancer-free, and confirmed that Neil Furst indeed suffered from oncogenic osteomalacia.

And so, with a definitive diagnosis in hand, Mann could at last arrange for treatment. He turned over the case to endocrinologist Michael Levine, M.D., who ordered a regimen of vitamin D and phosphorous—and within a matter of weeks Furst finally was free from pain.

Getting to the bottom of this problem, Mann says, was a peak event and a lesson in team work. “It’s not that any one of us is any smarter,” he makes clear. “We’ve just all seen enough unusual things that we know where to call for help. It was like tapping into a cumulative experience.” Then pausing, he adds: “It was also one of the 5 percent or so of cases that keep medicine forever exciting.”

— Gary Logan



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