As researchers learn more about the genetic etiology of immunopathology, they have been able to more clearly understand rare but debilitating autoinflammatory conditions in ways that have improved identification and management of these diseases. At this year’s European Congress of Rheumatology, two researchers outlined new recommendations from the European Alliance of Associations for Rheumatology (EULAR) and the American College of Rheumatology (ACR) for the management of two groups of such autoinflammatory diseases: interleukin-1-mediated and Type-I interferonopathies, and suspected macrophage activation syndrome and hemophagocytic lymphohistiocytosis.
Dr. Loreto Carmona
These are the first recommendations from EULAR for these diseases, according to Loreto Carmona, MD, PhD, chair of the EULAR scientific program committee and scientific director of the Institute for Musculoskeletal Health in Madrid.
“They are rare diseases and there is a great need to standardize diagnosis and care for the safety and outcome of the patients,” Dr. Carmona said in an interview. “These diseases need deep expertise and so the experts are trying, they are still preliminary, to add clarity to their management.” Dr. Carmona was not involved with the development of the guidelines and moderated the session during which they were presented.
Dr. Raphaela Goldbach-Mansky
“The rapidly emerging knowledge of the genetic causes of novel systemic autoinflammatory diseases, which present typically in early childhood with severe and chronic systemic and organ-specific inflammation, linked the disease pathogenesis to the pathologic production of major proinflammatory cytokines,” presenter Raphaela Goldbach-Mansky, MD, a senior investigator and chief of the translational autoinflammatory disease studies unit of the U.S. National Institute of Allergy and Infectious Diseases, told congress attendees. This greater understanding led to the “targeted and anticytokine treatments that have changed patients’ lives,” she said.
The guidelines relied on the products of three working groups for each disease type. After meeting to come up with clinical questions, the groups each conducted systematic literature reviews through EMBASE, PubMed, and the Cochrane Library for publications dated from 1970 to August 2020 that excluded non-English-language studies, case reports, and animal model or basic science studies. They then met again to develop final consensus statements.
The interferonopathy and interleukin (IL)-1-mediated systemic autoinflammatory diseases (SAIDs) working groups met throughout 2020, and the hemophagocytic lymphohistiocytosis (HLH)/ macrophage activation syndrome (MAS) working group met in March and April of 2021.
“One needs a lot of experience with these diseases to even think about them,” Dr. Carmona said. “We haven’t been presented yet with all the details of the recommendations, but we hope they are clear because they are much needed.”
She noted that these preliminary recommendations are based on the best available evidence to date along with expertise from multidisciplinary panels.
“We need to be acquainted with these recommendations, as the majority of us, either if we are pediatric or adult rheumatologists, will face some problem with these diseases at some point,” Dr. Carmona said.