In a December 2019 editorial in the Journal of the American Medical Association, the implications of diagnostic error were explored through the story of two parents, both medical professionals, who sought a diagnosis for their sick child.1 Their son saw specialist after specialist and underwent repeated procedures, but for years was left without an explanation…
Researchers have identified 93 genes that may play a role in systemic lupus erythematosus (SLE), including 47 genes not previously associated with SLE. Theresulting transcriptome has revealed underappreciated genes and pathways associated with the pathogenesis of SLE…
(Reuters Health)—For a wide range of diseases, diagnosis comes later in life for women than for men, according to a large Danish study. Researchers don’t know whether the later diagnoses are due to genetics, the environment, possible biases in the healthcare system—or some combination of reasons. The study of health data from 6.9 million Danish…
Relapsing polychondritis (RPC) is a systemic and, in some cases, fatal disease. Dyspnea with findings of small airway disease—even in the absence of the more commonly associated tracheobronchial abnormalities or pathognomonic clinical findings, such as saddle nose and cauliflower ear—may be presenting signs and symptoms of relapsing polychondritis. Below, we present a case demonstrating that…
Celiac disease and gluten sensitivity are difficult to diagnose, but they affect multiple systems and are associated with other autoimmune diseases. Lan Chen, MD, PhD, believes better testing and clearer education will be a gamechanger for celiac patients…
A 54-year-old woman is establishing care in your clinic after retirement of her previous rheumatologist. Your review of her records suggests that she was diagnosed with systemic lupus erythematosus seven years ago on the basis of symptoms of body pain and fatigue, and serologic evidence of positive ANA 1:40 (speckled) and borderline anti-SSB antibody. She…
Systemic lupus erythematosus (SLE) is an autoimmune-mediated rheumatic disease characterized by multisystem involvement that can cause significant morbidity and mortality. Acute disseminated encephalomyelitis (ADEM) is a rare, fulminant, autoimmune-mediated, demyelinating disease involving the white matter of the central nervous system (CNS), and is considered a manifestation of neuropsychiatric lupus. Few reported cases involve SLE and…
A recent U.K. study assessed the use of the Perrin technique to diagnose chronic fatigue syndrome based on five physical signs of disease. Overall, researchers found the accuracy of diagnosis by allied health professionals was highest when using tests for only two signs: tender coelic plexus and postural/mechanical disturbances of the thoracic spine…
Receiving an RA diagnosis may be emotional and difficult for patients. By engaging the patient in learning about the disease and its treatment options, as well as cultivating a communicative relationship, rheumatologists can truly help a patient take control of their health…
According to a large cohort study of pediatric patients, rituximab use is on the rise in the treatment of children diagnosed with vasculitis. Treatment with cyclophosphamide remains common, but it’s beginning to wane. Dialysis and mechanical ventilation also remain common, the study indicates. The retrospective study of hospitalized children in the U.S. included the largest…