Arthritis & Rheumatism, Volume 60,
October 2009 Abstract Supplement
The 2009 ACR/ARHP Annual Scientific Meeting
Philadelphia October 16-21, 2009.
Genetics, Clinical Features, and Treatment in a Well-Defined Cohort with Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis (PFAPA)
Lapidus1, Sivia, Chitkara1, Puja, Feder2, Henry, Athreya3, Balu H., Aksentijevich1, Ivona, Barham1, Beverly K., Ward1, Michael M.
NIAMS/NIH, Bethesda, MD,
University of Connecticut Health Sciences Center/Connecticut Children's Medical Center, Hartford, CT,
duPont Hospital for Children/Thomas Jefferson University, Wilmington, DE,
NIAID/NIH, Bethesda, MD
To elucidate the clinical features of PFAPA that may distinguish this condition from the known Mendelian periodic fever syndromes.
Children who fulfilled inclusion criteria of recurrent fever in addition to two of the three defining clinical features of PFAPA (aphthous stomatitis, pharyngitis, and/or cervical adenopathy) were recruited prospectively and had longitudinal follow-up. We analyzed clinical symptoms, response to medications, and hereditability. Patients included in the study had genetic testing to exclude mutations in the known genes associated with hereditary periodic fever syndromes and cyclic neutropenia.
Of forty-nine patients who met inclusion criteria, genetic testing revealed variants in 9 children (18%) in the MVK (V377I/I268T, V377I), MEFV (G304R, E148Q, K695R/V726A), TNFRSF1A (3 with R92Q), and ELA2 (P257L) genes. Patients with negative genetic testing were included in the clinical analysis. All three defining features of PFAPA were present in the majority of patients. Atypical characteristics of attacks in over half of the PFAPA patients included loss of appetite, headache, myalgia, and abdominal pain. Oral corticosteroids aborted fevers in all 30 patients treated, with 53% of patients experiencing subsequently shortened intervals between attacks. Three of 12 patients (25%) treated with cimetidine had decreased intensity of fevers and increased intervals between attacks. Seven of 10 patients (70%) who had tonsillectomies went into remission. Eight patients (20%) had affected family members who fulfilled the diagnostic criteria for PFAPA or had recurrent fevers as children.
Three important new findings are shown in this cohort: (1) the high number of genetically positive patients, who resemble PFAPA clinically, emphasizes the importance of excluding hereditary periodic fever syndromes genetically; (2) the familial predilection suggests a genetic etiology of this disease; (3) the data imply a broader clinical spectrum in PFAPA.
To cite this abstract, please use the following information:
Lapidus, Sivia, Chitkara, Puja, Feder, Henry, Athreya, Balu H., Aksentijevich, Ivona, Barham, Beverly K., et al; Genetics, Clinical Features, and Treatment in a Well-Defined Cohort with Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis (PFAPA) [abstract]. Arthritis Rheum 2009;60 Suppl 10 :2007