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Uncertain Diagnoses

Uncertain Diagnoses

Bringing undefined illnesses out of the shadows and into public discussion

HSS rheumatologists have long held a keen interest in conditions that don’t meet clear diagnostic criteria. For much of his remarkable career, one of the leaders of the department, Michael D. Lockshin, MD, has been intensely focused on the yes-you-have-it/no-you-don’t approach to chronic illnesses — so much so that he has published numerous papers on disease overlap and evolution as well as three books on the subject.

“About half of patients with systemic autoimmune diseases do not meet criteria for defined diagnoses,” says Dr. Lockshin. “These patients are excluded from clinical trials and basic science research. As a result, they are often ineligible for treatments approved for patients with defined diagnoses and even some diagnostic tests. Very few investigators and other stakeholders think about these patients; indeed, most exclude them.”

Now Dr. Lockshin and fellow HSS rheumatologists Medha Barbhaiya, MD, MPH, Lisa Sammaritano, MD, and Mary K. Crow, MD, are leading an effort to make that uncertainty less difficult to navigate for both patients with undiagnosed illnesses and the physicians who care for them. The subject will be the focus of a two-day virtual conference in April sponsored by the Barbara Volcker Center for Women and Rheumatic Diseases at HSS, which Dr. Lockshin directs.

“This initiative shines a light on the concept that systemic rheumatic diseases exist on a spectrum — which leads to challenges diagnosing, treating, and researching patients with these diseases,” says Dr. Barbhaiya.

This initiative shines a light on the concept that systemic rheumatic diseases exist on a spectrum.

The conference, titled “When the Illness Has No Name: Anomalies Are Opportunities,” will feature a diverse group of speakers, including experts from medicine, science, government and industry, as well as journalists and patients, presenting on the conceptual, research and management challenges associated with diagnostic uncertainty. Among the expected outcomes of the presentations and subsequent open discussions are descriptions of the processes by which “definitive” diagnoses are made and potential ways to measure and incorporate uncertainty into the diagnostic process. A further and more ambitious goal, says Dr. Lockshin, is to improve the care of those whose diagnoses are unclear, “to understand them and, ultimately, to improve their care.”

The conference will share its conclusions in a summary paper in a peer-reviewed journal and in a book to be published by Dr. Lockshin.

Those who would like to listen in to the "When the Illness Has No Name" conference may register here.

When the Illness Has No Name
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