Solving a diagnostic equation is both a science and an art. And the path to the solution can take unexpected turns and at times seem stalled. Getting to the right answer often requires the combined knowledge and effort of a team of experts—and the patient.


When Doug McTall stepped off the curb and landed funny, injuring his right knee, he couldn’t have known that he had just taken the first step of a difficult journey—one that for him would take many months, and many doctors, to complete.

McTall and his wife, Donna, live in a small town in southern Illinois, where he works as a regional truck driver and dock worker. The injury happened while he was at work, in April 2013, but it wasn’t anything he thought a doctor needed to treat. Then in June, climbing into the cab of his truck, he reinjured his knee. This time, pain and swelling in his lower leg forced him to a local clinic.

An exam suggested that something more serious than a hyperextended knee was going on, and McTall was quickly referred to the local hospital. There, he learned he had high levels of M-protein, a substance in the blood that is sometimes a sign of cancer. Doctors also told him he had deep vein thrombosis (DVT), essentially a blood clot, affecting his right thigh and the area behind his knee, and started him on anti-clotting drug therapy.


While hospitalized, new symptoms cropped up: joint pain and then a rash, which began on his back and soon spread to cover his body. Next came chills and sweats, but there was no cough, no loss of appetite, no nausea. The couple wondered if a reaction to medication was the cause.

McTall left the hospital eight days later with his DVT under control but without an explanation for his new symptoms. He then saw a hematology and oncology specialist to learn more about his elevated M-protein. The resulting diagnosis: a blood disorder called monoclonal gammopathy of unknown significance, or MGUS, and a mutation in a particular gene that, when deficient, can contribute to many serious conditions. The doctor told him he didn’t have cancer but would need medication and periodic checkups. These diagnoses, however, didn’t explain the reason for the range of symptoms that had plagued McTall and that continued, unchecked.


Jerry Beguelin, MD, McTall’s primary care physician, saw McTall in his office in August. Thinking the symptoms might be related to toe pain McTall had five years prior, caused by an elevated uric acid level that indicates gout, he prescribed an appropriate drug. But the tests for gout were negative, and the treatment was stopped. McTall’s symptoms continued unabated; he decided to track them by keeping a daily journal.

Next, Beguelin prescribed a steroid treatment that tapered in dosage each day. When taking the maximum dose, McTall’s joint pain and rash eased. But as he neared the end of treatment and was taking fewer steroid pills, the pain and rash returned, as did chills and sweats. And then hot flashes appeared. 

In January 2014, Beguelin prescribed another course of steroid treatment. Again, the treatment helped ease symptoms at first, then became ineffective. The symptoms returned 
with a vengeance.

By this time, the sum of McTall’s health problems had altered his life at work and at home. He found simply walking around the house or getting in and out of bed was extremely difficult on his worst days. And he couldn’t go to the store with his wife without needing two days afterward for recovery.


In February, Beguelin told McTall he’d found a specialist who might be able to solve the puzzle: John Atkinson, MD, a Washington University rheumatologist and autoimmune disease specialist at Barnes-Jewish Hospital. When Atkinson received McTall’s medical records, he got to work, discussing the details with his colleagues. When Doug and Donna McTall met with Atkinson, they gave him McTall’s journal and photographs Donna had taken of her husband at various times throughout their ordeal. During the exam, Atkinson told McTall he had specialists on the case. When the couple left that day, he promised them an answer.

Atkinson has a reputation for diagnosing the difficult-to-diagnose. He brought dermatologists, hematologists and radiologists into the process, and he delivered a challenge to a fourth-year medical student, who saw McTall in the consultation clinic during his appointment with Atkinson: 
See if you can come up with a diagnosis in 24 hours.

The student went home that night to have dinner with his wife, a dermatology resident at Barnes-Jewish Hospital. During the meal, they discussed Atkinson’s challenge. By the end of the evening, she had a rare disease in mind she had come across while studying for her medical-board examination. In the morning, the med student delivered their answer to Atkinson, who confirmed they had gotten it right.

On March 5, 2014, Atkinson made a phone call to the McTall home to relay the diagnosis: Schnitzler syndrome. He told the McTalls that the elevated M-protein, discovered earlier in the course of his illness, might have created an inflammatory reaction that caused the syndrome.

Named for French dermatologist Liliane Schnitzler, the syndrome was first described in 1974. Since then, fewer than 100 people have been diagnosed with the disease.


Atkinson asked the McTalls to do a little research on their own to see if they thought the diagnosis fit. The McTalls discovered that Schnitzler syndrome can manifest itself through the following symptoms, among others:

  • Deep vein thrombosis
  • Presence of M-protein in the blood
  • Rash
  • Joint pain or arthritis
  • Fever and/or night sweats

The McTalls knew they had their answer. To confirm the diagnosis, and to rule out any cancer of the blood (which can develop with Schnitzler syndrome), McTall returned to Barnes-Jewish Hospital for a series of tests. His bone marrow biopsy was negative for cancer, though he will need periodic testing.

The drug anakinra can be effective in treating Schnitzler syndrome, but it requires a daily injection and is very expensive. In search of an alternative treatment, Atkinson turned to Washington University dermatologist Milan Anadkat, MD, who knew of a clinical trial looking at the effectiveness of a drug called gevokizumab. Participants in the trial receive medication at no cost. Anadkat began the process required to get McTall accepted into the study.


“These kinds of cases,” says Atkinson, “are often best diagnosed at large academic medical centers like ours. We have a wealth of resources, including access to clinical trials. In this case, very bright students, residents and fellows as well as experienced physicians from multiple specialties applied themselves to the task of finding an answer.” Atkinson notes that most patients who have Schnitzler syndrome respond well to available treatment. “I’m pleased we are able to help Doug and Donna McTall.”

The McTalls are pleased, too, and eager to thank those who never gave up. “Dr. Beguelin was determined to put me in touch with a specialist who could help,” McTall says. “I guess Dr. Atkinson’s job is to figure out every strange case that comes his way. And Dr. Anadkat has jumped through hoops to get me approved for the trial.”

And then there’s Donna McTall, an essential part of solving the diagnosis equation. She called doctors, set appointments, managed insurance and workman’s compensation tangles. For the past year, her husband’s health has been her full-time job, all day, every day. Her husband says, “I love her. And I wouldn’t have made it through this past year without her.”

Read more articles from Innovate Fall 2014.

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