2427 Özçakar, et al: MEFV gene and HSP Personal non-commercial use only. The Journal of Rheumatology Copyright © 2008. All rights reserved. MEFV Mutations Modify the Clinical Presentation of Henoch-Schönlein Purpura Z.B . IRS . INÖZÇAKAR,FATOSYALÇINKAYA,N . ILGÜNÇAKAR,BANUACAR,ÖZGÜRKASAPÇOPUR, DEN . IZÜGÜTEN,DERYASOY,NAZLIKARA,NERM . INUNCU,N . ILAR . ISOY,andMES . IHAEK . IM ABSTRACT. Objective. Toinvestigatetheprevalenceof MEFV genemutationsinTurkishpatientswithHenoch- Schönleinpurpura(HSP)butwithnosymptomsoffamilialMediterraneanfever(FMF).Inaddition, weassessedtheclinicalandlaboratorycharacteristicsofHSPpatientswithandwithout MEFV muta- tions. Methods.EightypediatricpatientswithHSP(44boysand36girls)wereenrolled.Bloodformuta- tionanalysiswasobtainedeitheratthetimeofthediagnosisofHSPorduringfollowupvisitsinpre- viouslydiagnosedpatients.NopatienthadthediagnosisofFMFintheirhistoryandinthefollowup period.Exon10ofthe MEFV gene was screened, together with p.E148Q mutation analysis. Results.Twenty-seven(34%)patientswerefoundtobeheterozygousforoneofthescreened MEFV mutations; p.M694V in 16, p.M680I in 5, p.V726A in 3, and p.E148Q in 3 patients. Patients with MEFV mutationswereyoungerthanthosewithoutmutationsandtheyhadedemaandarthritismore frequently. Also, the frequencies of elevated erythrocyte sedimentation rate and C-reactive protein valueswerefoundtobesignificantlyhigherinpatientswhohad MEFV mutations. Conclusion. Alterations in the MEFV gene are important susceptibility factors for the development of HSP and also affect the clinical presentation of it. (First Release Oct 1 2008; J Rheumatol 2008;35:2427–9; doi:10.3899/jrheum.080405) Key Indexing Terms: CHILDREN FAMILIALMEDITERRANEAN FEVER HENOCH-SCHÖNLEIN PURPURA MEFV GENE From Ankara University School of Medicine, Department of Pediatric Nephrology; Ministry of Health Diskapı Children’s Hospital, Department of Pediatric Nephrology; Ministry of Health Ankara Children’s Hospital, Department of Pediatric Nephrology, Ankara; and Istanbul University Cerrahpasa Medical Faculty, Department of Pediatric Rheumatology, Istanbul, Turkey. Z.B. Özçakar, MD, Associate Professor; F. Yalçınkaya, MD, Professor, Ankara University School of Medicine, Department of Pediatric Nephrology; N. Çakar, MD, Associate Professor, Ministry of Health Diskapı Children’s Hospital, Department of Pediatric Nephrology; B. Acar, MD, Ministry of Health Ankara Children’s Hospital, Department of Pediatric Nephrology; Ö. Kasapçopur, MD, Associate Professor, Istanbul University Cerrahpasa Medical Faculty, Department of Pediatric Rheumatology; D. Ügüten, MD, Ankara University School of Medicine, Department of Pediatric Nephrology; D. Soy, MD; N. Kara, MD; N. Uncu, MD, Ministry of Health Diskapı Children’s Hospital, Department of Pediatric Nephrology; N. Arisoy, MD, Professor, Istanbul University Cerrahpasa Medical Faculty, Department of Pediatric Rheumatology; M. Ekim, MD, Professor, Ankara University School of Medicine, Department of Pediatric Nephrology. Address reprint requests to Dr. F. Yalçinkaya, Çinar Sitesi 5.Blok No:62, Ümitköy 06530 Ankara, Turkey. E-mail: yalcinkaya@tr.net Accepted for publication July 17, 2008. Henoch-Schönlein purpura (HSP) is among the most com- mon vasculitides of childhood. It is an IgA immune com- plex-mediated small-vessel vasculitis that classically pres- ents with the triad of nonthrombocytopenic palpable purpu- ra, colicky abdominal pain, and arthritis. The exact causative factor is not known; however, both genetic and environmentalfactorsarethoughttoplayaroleinthedevel- opmentofvasculitislikeHSP 1 .Increasedfrequencyofboth HSP and polyarteritis nodosa (PAN) have been reported in patientswithfamilialMediterraneanfever(FMF) 2,3 .Thirty- eight percent of patients with PAN 4 and 30% of patients with various childhood rheumatic diseases 5 were found to carry MEFV genemutations.Similarly,patientswithHSPin Israel have been investigated for the presence of MEFV mutations and 27% of the patients were found to have MEFV mutations 6 . The purpose of our study was 2-fold; first, to investigate the prevalence of MEFV gene mutations in Turkish patients with HSP who had no symptoms of FMF;andsecond,toassesstheclinicalandlaboratorychar- acteristics of HSP patients with and without MEFV muta- tions. MATERIALS AND METHODS Eighty pediatric patients who had been followed in 4 centers in Turkey betweenSeptember2006andJanuary2008wereenrolled.Allpatientsful- filled the European League Against Rheumatism/Pediatric Rheumatology European Society endorsed consensus criteria for the diagnosis of HSP 7 . Patients with established or suspected diagnosis of FMF according to the Livneh criteria 8 were excluded, including 6 patients with homozygous mutationsthatwerediagnosedafterHSP.These6patientswereadmittedto the hospital with the clinical findings of HSP; 5 of them had FMF symp- tomsbeforetheonsetofHSPandonedevelopedFMFsymptomsduringthe followup period after HSP diagnosis. All had elevated acute-phase reac- tants during HSP attack and colchicine was started in all patients. A ques- tionnairethatincludedtheclinicalcharacteristicsandlaboratoryfeaturesof the patients was completed by the physicians. Blood for mutation analysis wasobtainedeitheratthetimeofdiagnosisofHSPorduringfollowupvis- itsinpreviouslydiagnosedpatients.Writteninformedconsentwasobtained www.jrheum.org Downloaded on February 22, 2022 from