Peter Gorevic, MD, & Qingping Yao, MD, PhD | Issue: November 2020 |
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…
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…
Familial Mediterranean fever a frequently misdiagnosed autoinflammatory disease
Two case studies demonstrate the difficulty, delay in recognizing this rare autoinflammatory disease