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Patterns, Comorbidities Key in Diagnosis of Rare Rheumatic Diseases
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ORLANDO, Fla. — In the diagnosis of rare rheumatic disorders, it is important to listen to patients and look for clues or patterns on physical examination, said a presenter here at the Rheumatology Nurses Society Annual Conference.
“One of the fears we always have in rheumatology, and probably other areas of medicine, is the disease will see us, but we won’t see it,” Christopher T. Ritchlin, MD, MPH, said. “In other words, the patient comes in with an unusual presentation that we don’t recognize, we miss the diagnosis and therefore, the patient suffers.”
Ritchlin said rheumatologists and rheumatology teams need to look for clues or patterns on physical examination as these details make a difference.
“This is what we do well. We are not as dependent so much on the technology as much as we are with spending time with the patients, getting a history and doing a careful physical examination,” he said.
He also said careful selection of lab testing and imaging should be based on a limited or differential diagnosis to start and expanded based on results from the first pass. Additionally, if possible for these rare diseases, obtaining tissue could be beneficial.
Ritchlin also said it is important for rheumatology health care providers to be on the lookout for related comorbidities as these offer real clues as to what might be going on for patients.
“For the patient who comes in with eye symptoms that are new, are there lesions in the mouth or genital region? Are there problems with proximal muscle aching and stiffness when they are being diagnosed with temporal arteritis? These are the things that make us great clinicians. You have to practice, because that is how you are going to make the diagnosis and get the treatment you need for the patient,” he said. – by Kristine Houck, MA, ELS
Reference:
Ritchlin CT. A trifecta of rare and unusual disorders. Presented at: Rheumatology Nurses Society Annual Conference; Aug. 9-12, 2017; Orlando, Fla.
Disclosure: Ritchlin reports no relevant financial disclosures.
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Linda Grinnell-Merrick, MS, NP-BC
At the Rheumatology Nurses Society (RNS) Annual Conference, Christopher T. Ritchlin, MD, MPH, professor and chief of the allergy, immunology and rheumatology division at the University of Rochester Medical Center spoke on rare and unusual diseases seen in rheumatology. He reviewed clinical features, differential diagnosis, evaluation and treatment of relapsing polychondritis, Beçhet’s disease and immunoglobin G4-related diseases.
These are diseases that we hear about infrequently and when these do present, rheumatology nurses may feel inadequately prepared to care for these patients. This was a great overview and provided wonderful insight into the diseases, their presentation and treatments. We hope to hear more on this topic in future RNS conferences.
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