November 10-15

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Rarity of disease hampers care of CNO patients


3 minutes

There are not enough providers who feel comfortable taking care of adults with synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome, and many rheumatologists may treat only one or two of these patients in their careers.

“I have patients that come to me from California, a big state with lots of providers, because we can’t find somebody who feels comfortable taking care of them on their own in the adult rheumatology world,” said Polly Ferguson, MD, who is based in the Midwest.

Dr. Ferguson, Marjorie K. Lamb Professor of Pediatrics and Director of Pediatric Rheumatology at the University of Iowa Carver College of Medicine, will present “CRMO and SAPHO in Adults” as part of a basic science session entitled Autoinflammatory Diseases: Mechanisms and Management, starting at 5 p.m. EST Saturday, Nov. 7, during the ACR Convergence 2020 Virtual Meeting.

A common misconception persists that only children are affected by autoinflammatory disease, despite significant growth in the study of these conditions in the past decade. Dr. Ferguson and Daniel Kastner, MD, PhD, will help rheumatologists enhance their knowledge of these diseases and their effects on adult patients, and offer guidance on improving the transition of care from pediatric to adult rheumatologist.

Dr. Ferguson, a National Institutes of Health-funded investigator, will contrast the difference between children and adults with chronic non-infectious osteomyelitis (CNO), referred to as chronic recurrent multifocal osteomyelitis (CRMO) for the younger subset of patients and SAPHO syndrome for adults. Her research focuses on the etiology of autoinflammatory disorders, including CRMO and neuroinflammation. 

The rarity of CNO likely contributes to provider discomfort with treating these patients, and the combination of these two factors leads to delayed diagnosis, Dr. Ferguson said.

“It’s an essential problem that we have to find a place for these patients to go,” she said. “They are much less likely to get diagnosed in a prompt manner. For children, it’s around one year of delayed diagnosis, which is still bad, but for adults it’s about four.”

Just as the name of the illness differs by age group, so does treatment, although there is no U.S. Food and Drug Administration-approved medications for children or adults. Likewise, there have been no randomized controlled trials, and there is no identified biomarker for CNO, although studies are underway to change this.

“There’s no diagnostic test,” Dr. Ferguson said. “Whole-body MRI imaging is one of the best things we have to help make a diagnosis, and it’s difficult to get.”

She will present information on genetic causes of CNO, highlighting research on human and mouse genetics.

“It suffers from not having large numbers, so that makes it difficult, but people are trying to start to determine what we can and can’t use to try to help establish diagnosis,” Dr. Ferguson said.

In addition to key diagnostic features that will help “raise the index of suspicion” about potential cases of CNO, she will explore treatment options, including when to move beyond nonsteroidal or nonbiologic disease-modifying antirheumatic drugs (DMARDs) to a biologic DMARD.

Dr. Kastner, Scientific Director of the Division of Intramural Research, National Human Genome Research Institute, will offer additional insight into adults with undifferentiated autoinflammatory disease.