A number of autoinflammatory syndromes that result from genetic mutations have been described recently. The vast majority occur in children. However, three periodic fever syndromes are important for rheumatologists who treat adults to know about. The goal of this review is to provide a concise description of each condition, and to help the clinician understand…
Necrotizing autoimmune myopathy (NAM) is a relatively recently discovered subgroup of inflammatory myopathies. NAM is characterized by predominant muscle fiber necrosis and regeneration with little or no inflammation.1 One subgroup of NAM is 3-hydroxy-3-methylglutaryl-CoA reductase antibody (HMGCR Ab)-related immune-mediated necrotizing myopathy (IMNM), which occurs (rarely) after statin exposure, with a rough incidence of two per…
A recent study suggests novel markers of dry eye disease can be found in the lacrimal fluid and tear fluid of patients. Researchers analyzed the proteins in these fluids and found immune response-related proteins are upregulated at the protein level in lacrimal fluid of patients with dry eye disease and may be an important biomarker…
Managing weight loss through diet may help patients with rheumatic disease reduce inflammation. Here are some strategies on weight loss and eating for rheumatologists and patients…
Raynaud’s phenomenon in scleroderma or systemic sclerosis (SSc) is associated with significant discomfort and functional disability, especially in the presence of digital ulcers.1 Having lived with diffuse systemic sclerosis (dSSc) for nearly a decade, I can attest to this. It has been my experience that the hand pain and dysfunction in dSSc stems from Raynaud’s…
Tubulointerstitial nephritis and uveitis (TINU) syndrome, also known as Dobrin syndrome, is a rare oculo-renal inflammatory disease. It was first described in 1975 by American physician Robert Dobrin, MD.1 It manifests as acute interstitial nephritis and bilateral uveitis. In addition, patients often experience nonspecific systemic findings, such as fever, weight loss, malaise, myalgia and arthralgia. TINU…
Systemic sclerosis (SSc) is a disease characterized by immunologic abnormalities, microvascular involvement and tissue fibrosis. In previous studies, 10-year survival rates ranged from 50–84%. However, there are concerns that these studies, using prevalent cohorts, are underestimating mortality. “While the prognosis of many rheumatic diseases has improved with the availability of more effective and targeted therapies,…
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…
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…
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…