When evaluating patients with possible myopathic symptoms, rheumatologists must consider a rare, but important, group of inherited disorders: the metabolic myopathies. However, their diagnosis often remains a challenge. Early recognition of these primary metabolic myopathies is essential to help prevent disease morbidity and mortality from rhabdomyolysis. Here, we focus on the metabolic myopathies that present…
Search results for: recurrent fever syndromes
Kussmaul, Meier & Polyarteritis Nodosa
In 1866, Adolf Kussmaul, an internist, and Rudolf Maier, a pathologist, published the classic characterization of what eventually became known as polyarteritis nodosa.1 It was the first scientific clinical characterization of a noninfectious vasculitis. As such, it became a paradigmatic point of contrast to other types of vasculitides that were later described. Their description also…
Rheumatology Case Report: Monoarticular Arthritis in Pregnancy
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…
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…
Metagenomic Deep Sequencing for Uveitis Enhances Traditional Diagnostic Testing
Throughout their training and practice, physicians become adept at pattern recognition as a means to efficiently connect and synthesize seemingly disparate laboratory, physical exam, and radiologic and historical findings into a coherent theory for what likely ails the patient sitting in front of them. This inductive method of reasoning is necessary because, based on these…
APS: What Rheumatologists Should Know about Hughes Syndrome
The problem that dogs the work of all of those treating patients with antiphospholipid syndrome (APS) is the apparent lack of knowledge of the syndrome, both by the general public, as well as by swaths of the medical fraternity. Perhaps it was ever thus—a syndrome less than 40 years old could be described as new,…
Eosinophilia: A Diagnostic Evaluation Guide for Rheumatologists
Clinical Vignette A 45-year-old woman with long-standing asthma and chronic sinusitis has new-onset peripheral neuropathy, arthralgias, fatigue, progressive dyspnea and a nonproductive cough. She has never smoked and has no environmental exposures. Her medications include an albuterol metered-dose inhaler (which she uses daily); an inhaled corticosteroid, montelukast; and ibuprofen (which she takes occasionally). She is…
Patients with Large-Vessel Abnormalities Present Diagnostic Dilemma for Rheumatologists
Absent signs, symptoms suggesting etiology, clinicians rely on inflammatory markers, imaging to make the diagnosis
Fellow’s Forum Case Report: When Pulmonary Symptoms Point to Rheumatic Disease
A 48-year-old man with diffuse arthralgias and acute respiratory failure is diagnosed with antisynthetase syndrome
Two Inflammatory Conditions—Polymyalgia Rheumatica and Giant Cell Arteritis—Share Clinical Connection
Polymyalgia rheumatica (PMR) and giant cell arteritis (GCA) have common clinical and epidemiologic links, but they need not occur synchronously