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.
Search results for: recurrent fever syndromes
Case Report: MPA Hiding in Plain Sight
The COVID-19 pandemic has filled hospitals with patients with rapidly progressive respiratory failure and diffuse bilateral opacities on chest X-ray.1 Additionally, many patients with severe COVID-19 develop acute kidney injury and require dialysis.2 Pulmonary-renal syndromes are also important to consider in this setting. Although alveolar hemorrhage is a cardinal feature of this syndrome, many patients…
Case Report: A Polyarteritis Nodosa Conundrum
Polyarteritis nodosa (PAN) is a systemic necrotizing vasculitis that typically affects medium-sized muscular arteries. The clinical subsets of PAN are idiopathic, generalized, secondary hepatitis B virus (HBV) associated and cutaneous PAN. These clinical subsets are important because of their therapeutic implications. Virtually any organ system can be affected in generalized PAN, but this vasculitis tends…
Basic Science: New Insights into Inflammation in OA, VEXAS, COVID-19 & More
Michael B. Brenner, MD, addresses exciting advances in basic science in rheumatology, including insights into inflammation in osteoarthritis, the adult-onset autoinflammatory syndrome VEXAS and more.
Case Report: Does a Young Woman with Gitelman Syndrome Have Gout?
Gout is the most common type of inflammatory arthritis in adults, and it typically occurs in men over the age of 50. When gout presents in younger patients or in women, this should warrant consideration of secondary causes. We describe an unusual genetic cause of tophaceous gout in a young, premenopausal woman. Case Report In…
Dr. Daniel L. Kastner Awarded the 2021 Crafoord Prize for Polyarthritis
On Feb. 1, the Royal Swedish Academy of Sciences announced that Daniel L. Kastner, MD, PhD, scientific director of the Division of Intramural Research of the National Human Genome Research Institute, where he is a National Institutes of Health (NIH) Distinguished Investigator, was awarded the 2021 Crafoord Prize in Polyarthritis “for having established the concept…
Case Report: Drug-Induced Lupus & ANCA-Associated Vasculitis Overlap
Drug-induced lupus erythematosus and ANCA-associated vasculitis (AAV) are both autoimmune conditions associated with the use of hydralazine, a commonly prescribed drug for hypertension and congestive heart failure. Although the pathogenesis is unknown, it is believed that hydralazine alters neutrophil and lymphocyte function and promotes exposure of antigens, leading to the development of anti-neutrophil antibodies (ANCA)…
Study Provides Clues to Undefined, Systemic, Autoinflammatory Diseases
A study from October 2019 describes the clinical characteristics of pediatric patients with undefined systemic autoinflammatory diseases. Researchers conducted a genetic analysis and outlined specific variants. They found patients with pericarditis and intellectual impairment may have distinct clinical phenotypes, which may lead to improved diagnostic and treatment options.
Case Report: Too Many Activated Immune Cells in a 9-Month-Old Boy
Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening disease of immune dysregulation characterized by unchecked inflammatory responses leading to end-organ dysfunction. Primary HLH results from inherited mutations that impair the capacity for immune regulation; secondary HLH arises from the inappropriate response to an immune stimulus, such as infection, malignancy or autoimmunity. What is less well known is…
Case Report: Does a Rapid-Onset Neck Mass Have Rheumatic Origins?
A 54-year-old African American man arrived at the emergency department with the acute onset of a tender mass on the left side of his neck. It had been getting progressively larger for the preceding two days. History & Examination His history included chronic right hip osteoarthritis with two surgeries performed five years prior. At his…