Rheumatology

A 40-year-old man with end-stage kidney disease and calcium oxalate nephrolithiasis presented to the emergency department with joint pain. A workup was notable for nephrocalcinosis on imaging; dense, metaphyseal bands on radiography of the hands; and calcium deposition in the cornea and skin. A diagnosis of primary hyperoxaluria...

A 55-year-old man was evaluated in the rheumatology clinic because of bilateral hearing loss and eye redness. He had had fatigue and intermittent body aches for 2 months and had lost 5 kg of weight over a 6-month period. There was redness in both eyes and grossly reduced...

The Food and Drug Administration (FDA) mandated a safety study to be performed because of possible safety signals detected for the Janus kinase (JAK) inhibitor tofacitinib. As Ytterberg et al. report in this issue of the Journal , the Oral Rheumatoid Arthritis Trial (ORAL) Surveillance was a 4-year...

In this randomized noninferiority trial involving patients with rheumatoid arthritis, cardiovascular events and cancers occurred more frequently with tofacitinib than with a TNF inhibitor, and noninferiority of tofacitinib with respect to these end points was not established.

A 42-year-old man presented with red, painful eyes, facial-nerve palsy on the left side, a large oral ulcer, and petechiae. Tests for antibodies against perinuclear antineutrophil cytoplasmic antibody and proteinase 3 were positive. Skin biopsy revealed leukocytoclastic vasculitis with perivascular eosinophils. A diagnosis of eosinophilic granulomatosis with polyangiitis...

A 70-year-old man presented with a recurrent left pleural effusion. He had a history of polymyalgia rheumatica, relapsing polychondritis, scleritis, macrocytic anemia, and intermittent neutropenia, all of which had been refractory to multiple immunosuppressive agents. A diagnostic test was performed, and management decisions were made.

A 65-year-old man with gout and chronic kidney disease presented to the clinic with joint pain and swelling. He was found to have tophi and deformities of multiple joints in his hands. Urate-lowering therapy was started.

A 74-year-old woman presented to the emergency department with tongue necrosis and sudden-onset monocular vision loss. Biopsy specimens of the temporal arteries confirmed giant-cell arteritis.

Without effective treatment, pulmonary arterial hypertension results in high morbidity and mortality. This review discusses the pathogenesis of the disorder, the thorough clinical evaluation required to establish the diagnosis, available therapies, and future directions.

A 60-year-old man presented with ongoing fevers and fatigue, a tongue ulcer, dry scaly nodules on the face and hands, and migratory arthralgias in the wrists, fingers, elbows, and shoulders. CT revealed dependent reticular opacities throughout the lower lobes of the lungs. Hypoxemia developed. A diagnostic test was...

In this article, the authors discuss two cases of acquired PTH resistance secondary to serum PTH1-receptor autoantibodies that block PTH binding and signaling. In both cases, there were also other manifestations of autoimmunity. The presence of PTH1-receptor autoantibodies should be considered in patients with acquired PTH resistance.

A 75-year-old man with a history of an untreated hepatitis C virus infection presented with a 4-day history of a pruritic rash on his lower legs. He noted generalized malaise and an unintentional weight loss of 7 kg over the past 2 months. A video showing aortic vegetation...

A 68-year-old man was admitted with painful mouth ulcers and weight loss of 6 weeks’ duration. The ulcers had worsened despite treatment with acyclovir, prednisone, and colchicine. The blood eosinophil count was increased, and the patient was positive for the HLA-B51 allele. A diagnostic procedure was performed.

A 47-year-old man with a history of cerebellar stroke presented with pain involving the left side of the neck and the right flank, which preceded pulsating head pain. Imaging studies revealed dissections of the left vertebral artery and right renal artery with infarction. Additional diagnostic tests were performed.

A 12-month-old boy with Hirschsprung’s disease was admitted with fever, generalized weakness, intermittent diffuse rash, and regression of crawling. He had leukocytosis, thrombocytosis, and an elevated erythrocyte sedimentation rate. CT of the abdomen showed diffuse lymphadenopathy. A diagnostic test was performed.

The ability to block specific cytokine pathways has revealed pathophysiological differences among autoimmune diseases (e.g., the efficacy of TNF inhibitors in arthritides and inflammatory bowel disorders and their inefficacy in giant-cell arteritis and multiple sclerosis), providing a framework for reclassification.

A 46-year-old woman presented with an erythematous lesion on her thumb. Despite treatment with an antibiotic agent, the lesion increased in size, and painful raised lesions developed on her arms and other areas. A biopsy was performed, and a diagnosis of acute febrile neutrophilic dermatosis was made.

A 68-year-old man presented with skin changes on his chest and back and with shortness of breath. Examination showed “salt-and-pepper” skin changes, and computed tomography revealed fibrotic changes in the lower lobes of both lungs. A diagnosis of systemic sclerosis was made.