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…
Granulomatosis with polyangiitis (GPA) is a primary, necrotizing granulomatous vasculitis, involving small- to medium-sized arteries, that causes systemic disease. Almost any organ can be affected, but the most affected systems are the upper airways, lungs, kidneys, eyes and peripheral nerves. Migratory polyarthritis is reported in approximately 25% of patients with anti-neutrophil cytoplasmic antibody (ANCA) associated…
I have been reading Yuval Harari’s thought-provoking and engaging book, Sapiens: A Brief History of Humankind, about our species’ struggles and the path that led to our emergence as the predominant species. I was captivated by the drawing of the hand of one of our ancestors and mused about what that forebear was thinking as…
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…
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….
PHILADELPHIA—At ACR Convergence 2022, the much-anticipated ACR Review Course featured talks from eight experts. Topics reflected the heterogeneity of our field and included Sjögren’s disease, spondyloarthritis (SpA), osteoarthritis (OA), paraneoplastic rheumatic syndromes, metabolic bone disease, statin myopathy, Raynaud’s phenomenon and autoinflammatory syndrome. Here, I share highlights from this comprehensive, six-hour session. Sjögren’s Disease Sara S….
PHILADELPHIA—Selecting my top 10 picks for abstracts in psoriatic arthritis (PsA) at the ACR Convergence 2022 meeting was not easy because there was a great deal to review and learn from the 139 abstracts submitted to the meeting. I focused first and foremost on advances in therapeutics that encompassed both new and approved therapeutics, novel…
PHILADELPHIA—Approximately 60 research abstracts on gout were accepted for presentation at ACR Convergence 2022, including two plenary abstract presentations. It is exciting to see a wealth of research on gout being undertaken worldwide. Here, we highlight important points from seven of these studies. 1. Abstract 1810: Frequency and Patterns of Opioid Use in the Management…
A 60-year-old Black woman with a history of stage 3 chronic kidney disease, type 2 diabetes and hypertension presented with a 12-month history of asymmetric polyarthritis of the wrists, metacarpophalangeal (MCP), proximal interphalangeal (PIP), metatarsophalangeal (MTP) and knee joints. The review of systems was unremarkable. She denied oral ulcers, rashes, alopecia, or a history of…
The Case A 56-year-old white woman was evaluated for a one-year history of painless bumps on the dorsal aspect of the proximal interphalangeal (PIP) joints of both hands and suspected flexor tenosynovitis in her palms. On examination, small cystic nodules without erythema or tenderness were present on the dorsal aspect of several PIP joints (see…