Background/Purpose: Most published clinical data on this rapidly evolving group of diseases  are from highly specialized centers and do not reflect what is commonly seen in academic rheumatology practices. This retrospective case series examines the breadth and phenotypic variation seen in our medical center over the last two years

Methods: Case acquisition was acheived by three methods: review of ICD 9 code for periodic fever (277.31 -Famillial Mediterranean Fever); laboratory test requests for periodic fever genetic screening; and, clinic records

Results: 30 cases were obtained. The age range was 2m to 54 years old. 13 were female, 17 male. All but 3 were seen by a rheumatologist. Of the rheumatology patients 1 was cared for by an adult only rheumatologist and 1 by a rheumologist who predominantly cares for adult patients and the remainder (25) by a rheumatologist who cares for children (DA). 11 patients had the periodic fever, apthous stomatitis, pharyngitis, adenopathy syndrome (PFAPA) and all responded to abortive therapy with prednisone 1-2mg/kg at the onset of symptoms. 9 patients had an unknown syndrome predominantly abdominal pain and fever with a negative screen for common mutations associated with Familial Mediterrean Fever and other periodic fever syndromes (GeneDX). 5 patients with the Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS) were diverse ranging from asymptomatic relatives to classical presentiations including fever, abdominal pain, myalgias, arthritis and conjunctivitis. Only one of TRAPS patients received Entanercept and had a partial response but developed systemic lupus when given infliximab.Two of the three Familial Mediterranean patients responded to colchicine. The single patient with Hyper IgD Syndrome (HIDS) did not respond to either prednisone or anakinra. One child is a compound heterozygote with a mutation in the CIAS1 gene and the MEFV gene. This patient presented with urticaria, abdominal pain, and fever reflecting an overlap syndrome as did one of the othe FMF patients.

Conclusion Patients with Periodic Fever Syndromes have a variable clinical presentation and response to therapy and are predominantly cared for by rheumatologists. Familiarity with these disorders is essential for trainees and practicing rheumatologists. Expertise in pediatric rheumatology is useful to distinguish these patients from those with systemic juvenile rheumatoid arthritis and to appropriately treat this population that predominantly present in childhood

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ACR Meeting Abstracts - https://acrabstracts.org/abstract/periodic-fever-syndromes-in-an-academic-medical-center/