NEW YORK (Reuters Health)—Tocilizumab should be the “first choice” for treatment of the autoinflammatory and cutaneous manifestations of pigmentary hypertrichosis and non-autoimmune insulin-dependent diabetes mellitus (PHID) syndrome, say clinicians from the U.K. PHID syndrome is an extremely rare autosomal recessive genetic disease caused by mutations in the SLC29A3 gene. Children with the syndrome develop patches…
Potential Biomarker for APS Identified
New research examines the role of factor Xa in the pathology of antiphospholipid syndrome (APS) and systemic lupus erythematosus-associated APS. Researchers found that FXa stimulation was mediated by protease-activated receptors and enhanced by IgG from FXa reactive antibody positive patients, which may make IgG FXa reactivity a novel biomarker for future research…
Rheumatologists Find Nailfold Capillaroscopy an Increasingly Useful Diagnostic Tool
Interest in viewing the nail capillaries dates to the late 17th century. Later research by Maurice Raynaud and others in the late 19th and early 20th century first established a direct link between the nailfold capillaries and certain medical conditions. Although underutilized in the past, with the advent of modern digital equipment and the validation…
Research Links Macrophages with Pathogenesis of Inflammation, Fibrosis
MADRID—Research into pharmacodynamic biomarkers has shown that macrophages may have an important role in the pathogenesis of several diseases, including systemic sclerosis, an expert said at the 2017 Annual European Congress on Rheumatology (EULAR). The findings were discussed in a session that also covered how an understanding of M1 macrophages’ role in fibrosis has evolved…
How Juvenile Idiopathic Arthritis Affects Patients, Families
After having had juvenile idiopathic arthritis (JIA) for 20 years, I had a moment in my journey when I realized something new: “Your arthritis doesn’t just affect you, you know,” my sister said. This statement stopped me in my achy tracks. For two decades, I had been operating under the assumption that JIA was my…
Fellows’ Forum Case Report: Autoinflammatory Diseases and Roles of Genetic, Molecular Testing
A 51-year-old Caucasian female was referred by a local rheumatologist to the Center of Autoinflammatory Diseases at Stony Brook University, N.Y., for an unusual disease presentation. The patient had had recurrent polyarthritis, fever and rash for the previous three years. She described having a migratory polyarthritis affecting the shoulders, knees, ankles and bilateral forefoot, with…
Heated Gloves May Improve Hand Function in Diffuse Systemic Sclerosis
Systemic sclerosis (SSc), a subtype of scleroderma, is a rare, complex autoimmune disease characterized by widespread vasculopathy of the small arteries and fibroblast dysfunction.1,2 It has been described as a fibrosing microvascular disease, because vascular injury precedes and leads to tissue fibrosis.3 The resulting Raynaud’s phenomenon, pain, skin thickening and tightening, and multi-organ involvement have…
Autoreactive Germinal Centers: A Single Autoreactive B Cell Clone Can Drive Autoimmunity
A study in mice provides insight into the maturation of the self-reactive B cell response, contextualizing the epitope spreading observed in autoimmune disease. Researchers found that clonal expansion of wild type B cells in autoreactive germinal centers appeared to be at the heart of epitope spreading and the consequent autoimmune response…
Adalimumab + Methotrexate Effective for Uveitis in JIA
Research has found that taking adalimumab plus methotrexate is effective for patients with juvenile idiopathic arthritis-associated uveitis. However, these patients may also experience an increased incidence of adverse and serious adverse events compared with those taking only methotrexate…
Whole-Body MRI, Ultrasound Imaging May Aid in Early Rheumatic Disease Diagnosis, Treatment
MADRID—Researchers say that whole-body MRI could yield an earlier diagnosis of spondyloarthropathy (SpA) in patients with early inflammatory joint symptoms, according to findings presented in a poster session at the Annual European Congress of Rheumatology (EULAR). The approach could lead to earlier treatment and better outcomes, they say. Investigators at the University of Leeds recruited…
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