ACR CONVERGENCE 2020—Tiphanie Phillips Vogel, MD, PhD, assistant professor of pediatrics and internal medicine at Baylor College of Medicine, Houston, moderated the session on COPA syndrome, which drew 324 attendees on a Sunday morning. This rare genetic cause of immune dysregulation can present like anti-neutrophil cytoplasmic antibody (ANCA) associated vasculitis, lupus, lupus nephritis or rheumatoid…
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…
CHICAGO—The 2018 ACR/ARHP Annual Meeting session on genetic mimics of rheumatic disease began with a description of a patient who presented with the symptoms of childhood-onset lupus but instead had a well-defined genetic disease: lysinuric protein intolerance (LPI). Lindsay Burrage, MD, PhD, assistant professor of molecular and human genetics at Baylor College of Medicine, Houston,…
SAN DIEGO—An increasing number of patients is being identified with deficiency of adenosine deaminase type 2 (DADA2); fortunately, researchers and clinicians continue to better understand the genetic disease as well, experts said in a session at the 2017 ACR/ARHP Annual Meeting Nov. 3–8. The childhood-onset disease involves loss-of-function mutations to the CECR1 gene (i.e., cat…