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…
Mysterious Ways The juxtaposition of the old and the new was readily evident that busy Wednesday morning. My first patient, a 94-year-old gentleman, Hal, arrived with a precise request. His rheumatologist for the past 40 years had just retired, and he was searching for a doctor with expertise in the use of gold sodium aurothioglucose,…
Anemia is common in patients with systemic rheumatic disease, yet it may not get the attention it deserves. Anemia can result from chronic inflammation, treatment side effects or other disease factors, or it may signal an unrelated condition. Although diagnosis and treatment of anemia are sometimes challenging, clinicians must do their utmost to rigorously investigate…
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…
Medications for serious or life-threatening conditions may receive accelerated approval from the U.S. Food and Drug Administration (FDA) by showing an effect on surrogate measures that are reasonably likely to predict a treatment’s clinical benefit. Post-approval confirmatory drug trials are then required to determine whether or not these effects translate into clinical improvements. In recent…
A 57-year-old Ghanaian woman was referred to our rheumatology practice with acute, left elbow swelling and pain. The referring oncologist suspected gout, because the patient had hyperuricemia. Six months before, the patient was diagnosed with stage IV human T-lymphotropic virus type 1 (HTLV-1)-associated adult T cell lymphoma (ATLL). Her initial oncologic manifestations included multiple thoracic,…
Research has shown that anticonvulsants are teratogens and pose a risk for fetal malformations. Meadow was the first to note a possible link between congenital abnormalities and maternal use of anticonvulsive drug in 1968.1 In 1974, Barr et al noted hypoplasia and irregular ossification of the digital distal phalanges with nail dystrophy in children born to…
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…
Limited data exist on the clinical presentation of Muckle–Wells syndrome (MWS) during pregnancy. The purpose of this case report is to highlight the diagnosis of MWS in a pregnant woman. Many rheumatic diseases affect women of childbearing age, and their management during pregnancy can be challenging. Case A 33-year-old, 18-weeks’ pregnant woman was hospitalized for…