SAN DIEGO—Many rheumatologists see patients referred for uveitis, and Laura Kopplin, MD, PhD, assistant professor of ophthalmology and visual sciences, University of Wisconsin, Madison, discussed inflammatory disease of the eye at ACR Convergence 2023.
Image Case Report: Glandular Swelling
The Case A 47-year-old woman presented with a one-year history of bilateral submandibular gland swelling, mild symptoms of xerostomia and xerophthalmia and arthralgias in her fingers. A review of systems was otherwise unremarkable. On physical examination, her submandibular glands on both sides were enlarged and had a firm texture. Her parotid glands were normal, as…
Case Report: Hajdu-Cheney Syndrome
Hajdu-Cheney syndrome (HCS) is a rare connective tissue disease, with fewer than 100 cases reported worldwide.1 Hallmark features include acro-osteolysis (i.e., resorption of the distal phalanges of the hands and feet), osteoporosis, facial dysmorphisms, and craniofacial and dental abnormalities. Patients often have short stature and can have neuroanatomical deformities causing intellectual disabilities. These patients can…
Case Report: A Patient Presents with Digital Ischemia & Gangrene
Defined by the presence of antiphospholipid antibodies (aPL) in individuals with clinical evidence of thrombosis or pregnancy morbidity, antiphospholipid syndrome (APS) is a systemic autoimmune thrombophilia. Clinical thrombosis, which should be confirmed by objective validated criteria (e.g., imaging studies or histopathology), can occur in the arterial, venous or small vessel vasculature and is not limited…
ACR Image Competition 2022 Results, Part 5
Resolution of GAVE After aHSCT for Progressive Systemic Sclerosis A 30-year-old man with RNA polymerase III (Pol III)-positive, diffuse, progressive systemic sclerosis had a persistent microcytic anemia with a hemoglobin level of 8 g/dL and evidence of gastric antral ventral ectasia (GAVE) on gastroscopy. He underwent autologous hematopoietic stem cell transplantation (aHSCT). After six months,…
Case Report: GPA or IgG4-Related Disease in an 11-Year-Old Girl?
Granulomatosis with polyangiitis (GPA) is a type of anti-neutrophil cytoplasmic antibody (ANCA) associated small vessel vasculitis that typically affects the kidneys, lungs and sinuses.1 Due to an overlap in signs and symptoms, GPA may initially be difficult to distinguish from IgG4-related disease, another condition that can affect multiple tissues and has variable presentations. Further complicating…
Case Report: Is It Cardiac Sarcoidosis or COVID-19 Myocarditis?
COVID-19 causes myriad cardiac dysfunctions, ranging from mild to fulminant disease, including myocarditis, acute congestive heart failure, cardiogenic shock and sudden cardiac death.1,2 COVID-19 myocarditis can mimic cardiac sarcoidosis clinically and on cardiac imaging, which can lead to diagnostic challenges and treatment delays. We present a case of cardiac sarcoidosis with interval development of metabolic…
Sarilumab Approved for the Treatment of Adults with Glucocorticoid-Resistant PMR
First described in 1888, polymyalgia rheumatica (PMR) is a chronic inflammatory condition that almost exclusively affects individuals older than 50.1 Until this week, no therapies for PMR had been approved by the U.S. Food & Drug Administration (FDA).2 Tuesday, Sanofi announced sarilumab (Kevzara) has been approved by the U.S. Food & Drug Administration for the…
Case Report: A Long, Arduous Evaluation Capped by Genetic Testing
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…
Case Report: Adult-Onset Still’s Disease with Complications
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….
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