Systemic autoinflammatory diseases (SAIDs) are rare syndromes characterized by alterations in innate immunity that result in a variety of clinical manifestations that are usually associated with recurrent fevers.1 Thanks to advances in genetic sequencing over the past few years, monogenic causes for some of these autoinflammatory diseases, such as Yao syndrome, have been discovered.2 Previously…
The following report outlines a case of newly diagnosed adult-onset Still’s disease (AOSD) complicated by macrophage activation syndrome (MAS) in a previously healthy and active 32-year-old man who had emigrated from Africa to the U.S. Case A man with no prior medical history presented with acute-onset polyarthritis, fevers and fatigue that began one month previously….
PHILADELPHIA—Ever since the seminal work of C. Lockard Conley, MD, in 1952 of the discovery of the lupus anticoagulant, antiphospholipid syndrome (APS) has been of great interest to rheumatologists, hematologists and many others. At ACR Convergence 2022, the session titled Draft ACR/EULAR Antiphospholipid Syndrome Classification Criteria sought to summarize the rigorous process that went into…
PHILADELPHIA—At ACR Convergence 2022, the much-anticipated ACR Review Course featured talks from eight experts. Topics reflected the heterogeneity of our field and included Sjögren’s disease, spondyloarthritis (SpA), osteoarthritis (OA), paraneoplastic rheumatic syndromes, metabolic bone disease, statin myopathy, Raynaud’s phenomenon and autoinflammatory syndrome. Here, I share highlights from this comprehensive, six-hour session. Sjögren’s Disease Sara S….
PHILADELPHIA—At the first Plenary Session of ACR Convergence 2022, on Saturday, Nov. 12, speakers shared key research findings on the efficacy and safety of methotrexate as a co-therapy with pegloticase in refractory gout, the effectiveness of rituximab and cyclophosphamide in connective tissue disease associated-interstitial lung disease and the value of remote education for primary care…
Although progress has been made in recent years, rheumatologists still have a lot of questions regarding best management practices for antiphospholipid syndrome (APS). During a session of EULAR 2022, Ricard Cervera, MD, PhD, described a holistic approach.
Autoinflammatory disorders may involve genetic mutations of the inflammasome or an environmental trigger in a genetically susceptible host. Dr. Jay Mehta discussed a practical, clinical approach to caring for patients with autoinflammatory disorders, such as periodic fever syndromes, during the 2022 ACR Education Exchange.
During the peak of the coronavirus pandemic in Washington, D.C., we were asked to evaluate a 14-year-old boy admitted to the pediatric hospitalist service. He had been healthy until two weeks before, when he noted a sore throat, and soon after he developed fevers and rashes without congestion, shortness of breath, conjunctivitis or swollen lymph…
Sarcoidosis is a multisystem disease characterized by noncaseating granulomas in affected tissues, mostly involving the lungs and lymph nodes.1,2 The etiology of sarcoidosis remains unknown but is thought to be due to an inflammatory response to an antigen exposure in genetically predisposed individuals.1 Tumor necrosis factor-α (TNF‑α), a pro-inflammatory cytokine, plays an essential role in…
Intra-articular venous malformations of the knee are an uncommon cause of knee pain in children. Presenting symptoms of this rare subtype of venous malformation often include nonspecific pain and joint swelling, which may be episodic, and accompanied by limited range of motion. The signs and symptoms can mimic juvenile idiopathic arthritis (JIA). Timely diagnosis of…