Top

Published in:

Open Access 01-12-2010 | Short Report

Periodic fever syndromes in Eastern and Central European countries: results of a pediatric multinational survey

Authors: Nataša Toplak, Pavla Dolezalovà, Tamas Constantin, Anna Sedivà, Srdjan Pašić, Peter Čižnar, Beata Wolska-Kuśnierz, Miroslav Harjaček, Mariana Stefan, Nicolino Ruperto, Marco Gattorno, Tadej Avčin, Eastern/Central European autoinflammatory collaborating group for the Paediatric Rheumatology International Trials Organization (PRINTO) and Eurofever Project

Published in: Pediatric Rheumatology | Issue 1/2010

Abstract

Objective

To analyze the prevalence of diagnosed and suspected autoinflammatory diseases in Eastern and Central European (ECE) countries, with a particular interest on the diagnostic facilities in these countries.

Methods

Two different strategies were used to collect data on patients with periodic fever syndromes from ECE countries- the Eurofever survey and collection of data with the structured questionnaire.

Results

Data from 35 centers in 14 ECE countries were collected. All together there were 11 patients reported with genetically confirmed familial Mediterranean fever (FMF), 14 with mevalonate-kinase deficiency (MKD), 11 with tumor necrosis factor receptor associated periodic syndrome (TRAPS) and 4 with chronic infantile neurological cutaneous and articular syndrome (CINCA). Significantly higher numbers were reported for suspected cases which were not genetically tested. All together there were 49 suspected FMF patients reported, 24 MKD, 16 TRAPS, 7 CINCA and 2 suspected Muckle-Wells syndrome (MWS) patients.

Conclusions

The number of genetically confirmed patients with periodic fever syndromes in ECE countries is very low. In order to identify more patients in the future, it is important to organize educational programs for increasing the knowledge on these diseases and to establish a network for genetic testing of periodic fever syndromes in ECE countries.

Gattorno M, Federici S, Pelegatti MA, Caorsi R, Brisca G, Malattia C, Martini A: Diagnosis and management of autoinflammatory diseases in childhood. J Clin Immunol. 2008, 28: S73-83. 10.1007/s10875-008-9178-3.CrossRefPubMed

Padeh S: Periodic Fever Syndromes. Peditr Clin North Am. 2005, 52: 577-609. 10.1016/j.pcl.2005.01.005.CrossRef

Jeru I, Duquesnov P, Fernandes-Alnemri T, Cochet E, Yu JW, Lackmy-Port-Lis M, Grimprel E, Landman-Parker J, Hentgen V, Marlin S, McElreavey K, Sarkisian T, Grateau G, Alnemri ES, Amselem S: Mutations in NALP 12 cause hereditary periodic fever syndromes. Proc Natl Acad Sci USA. 2008, 105: 1614-9. 10.1073/pnas.0708616105.PubMedCentralCrossRefPubMed

Aksentijevich I, Masters SL, Ferguson PJ, Dancey P, Frenkel J, van Royen-Kerkhoff A, Laxer R, Tedgård U, Cowen EW, Pham TH, Booty M, Estes JD, Sandler NG, Plass N, Stone DL, Turner ML, Hill S, Butman JA, Schneider R, Babyn P, El-Shanti HI, Pope E, Barron K, Bing X, Laurence A, Lee CC, Chapelle D, Clarke GI, Ohson K, Nicholson M, Gadina M, Yang B, Korman BD, Gregersen PK, van Hagen PM, Hak AE, Huizing M, Rahman P, Douek DC, Remmers EF, Kastner DL, Goldbach-Mansky R: An autoinflammatory disease with deficiency of the interlevkin-1-receptor antagonist. N Engl J Med. 2009, 360: 2426-37. 10.1056/NEJMoa0807865.PubMedCentralCrossRefPubMed

Lanzieri G: Population and social conditions. Population in Europe. 2007, [http://epp.eurostat.ec.europa.eu/cache/ITY_OFFPUB/KS-SF-08-081/EN/KS-SF-08-081-EN.PDF] : first results

Livneh A, Langevitz P, Zemer D, Zaks N, Kees S, Lidar T, Migdal A, Padeh S, Pras M: Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum. 1997, 40: 1879-85. 10.1002/art.1780401023.CrossRefPubMed

Ben-Chetrit E, Levy M: Familial Mediaterranean fever. Lancet. 1998, 351: 659-664. 10.1016/S0140-6736(97)09408-7.CrossRefPubMed

Papadopoulos VP, Gigalis S, Mitroulis I, Ritis K: The population genetics of familial Mediterranean fever: a meta-analysis study. Ann Hum Genet. 2008, 72: 752-61. 10.1111/j.1469-1809.2008.00471.x.CrossRefPubMed

LaRegina M, Nucera G, Diaco M, Procopio A, Gasbarrini G, Notarnicola C, Kone-Paut I, Touitou I, Manna R: Familial Mediterranean fever is no longer a rare disease in Italy. Eur J Hum Genet. 2003, 11: 50-6. 10.1038/sj.ejhg.5200916.CrossRef

10.

D'Osualdo A, Picco P, Caroli F, Gattorno M, Giacchino R, Fortini P, Corona F, Tommasini A, Salvi G, Specchia F, Obici L, Meini A, Ricci A, Seri M, Ravazzolo R, Martini A, Ceccherini I: MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever. Eur J Hum Genet. 2005, 13: 314-20.CrossRefPubMed

11.

Demirkaya E, Caglar MK, Waterham HR, Topaloglu R, Ozen S: A patient with hyper-IgD syndrome responding to anti-TNF treatment. Clin Rheumatol. 2007, 26: 1757-9. 10.1007/s10067-006-0501-1.CrossRefPubMed

12.

Van der Hilst JC, Bodar EJ, Barron KS, Frenkel J, Drenth JP, van der Meer JW, Simon A: Long-term follow up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome. Medicine (Baltimore). 2008, 87: 301-10. 10.1097/MD.0b013e318190cfb7.CrossRef

13.

Ryan J, Aksentijevich I: Tumor necrosis factor receptor-associated periodic syndrome: toward a molecular understanding of the systemic autoinflammatory diseases. Arthritis Rheum. 2009, 60: 8-11. 10.1002/art.24145.PubMedCentralCrossRefPubMed

14.

Caroli F, Pontillo A, D'Osualdo A, Travan L, Ceccherini I, Crovella S, Alessio M, Stabile A, Gattorno M, Tommasini A, Martini A, Lepore L: Clinical and genetic characterization of Italian patients affected by CINCA syndrome. Rheumatology. 2007, 46: 473-8. 10.1093/rheumatology/kel269.CrossRefPubMed

15.

Gattorno M, Caorsi R, Meini A, Cattalini M, Federici S, Zulian F, Cortis E, Calcagano G, Tommasini A, Consolini R, Simonini G, Pelagatti MA, Baldi M, Ceccherini I, Plebani A, Frenkel J, Sormani MP, Martini A: Differentiating PFAPA syndrome from monogenetic periodic fevers. Pediatrics. 2009, 124: e721-8. 10.1542/peds.2009-0088.CrossRefPubMed

Title: Periodic fever syndromes in Eastern and Central European countries: results of a pediatric multinational survey
Authors: Nataša Toplak
Pavla Dolezalovà
Tamas Constantin
Anna Sedivà
Srdjan Pašić
Peter Čižnar
Beata Wolska-Kuśnierz
Miroslav Harjaček
Mariana Stefan
Nicolino Ruperto
Marco Gattorno
Tadej Avčin
Eastern/Central European autoinflammatory collaborating group for the Paediatric Rheumatology International Trials Organization (PRINTO) and Eurofever Project
Publication date: 01-12-2010
Publisher: BioMed Central
Published in: Pediatric Rheumatology / Issue 1/2010
Electronic ISSN: 1546-0096
DOI: https://doi.org/10.1186/1546-0096-8-29

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Periodic fever syndromes in Eastern and Central European countries: results of a pediatric multinational survey

Abstract

Objective

Methods

Results

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Objective

Methods

Results

Conclusions

Please log in to get access to this content

Other articles of this Issue 1/2010

Improvement in medication education in a pediatric subspecialty practice

Anesthesia for intra-articular corticosteroid injections in juvenile idiopathic arthritis: A survey of pediatric rheumatologists

First case of childhood Takayasu arteritis with renal artery aneurysms

Burden of childhood-onset arthritis

Bullous lesions as a manifestation of systemic lupus erythematosus in two Mexican teenagers

Guilt by association - what is the true risk of malignancy in children treated with etanercept for JIA?