Familial mediterranean fever in heterozygotes: Are we able to accurately diagnose the disease in very young children?

Arthritis and Rheumatism

Volumn 65, Issue 6, 2013, Pages 1654-1662

  Hentgen, Véronique ^a   Grateau, Gilles ^b   Stankovic Stojanovic, Katia ^b   Amselem, Serge ^c   Jéru, Isabelle ^c  

^a CENTRE HOSPITALIER DE VERSAILLES   (France)

^b HÔPITAL TENON   (France)

^c ARMAND TROUSSEAU HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ALLELE; ARTICLE; AUTOINFLAMMATORY DISEASE; CHILD; CLINICAL FEATURE; DIAGNOSTIC ACCURACY; FAMILIAL MEDITERRANEAN FEVER; FOLLOW UP; GENE MUTATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; FAMILIAL MEDITERRANEAN FEVER; HETEROZYGOTE; HETEROZYGOTE DETECTION; HOMOZYGOTE; HUMANS; MUTATION; RETROSPECTIVE STUDIES; YOUNG ADULT;

EID: 84878558322     PISSN: 00043591     EISSN: 15290131     Source Type: Journal    
DOI: 10.1002/art.37935     Document Type: Article

References (30)

1. Ben-Chetrit E, Levy M,. Familial Mediterranean fever. Lancet 1998; 351: 659-64. (Pubitemid 28098460)
2. Pras M,. Familial Mediterranean fever: from the clinical syndrome to the cloning of the pyrin gene. Scand J Rheumatol 1998; 27: 92-7. (Pubitemid 28172564)
3. Cabili S, Zemer D, Pras M, Aviram A, Sohar E, Gafni J,. The prevention of amyloidosis in familial Mediterranean fever with colchicine. Proc Eur Dial Transplant Assoc Eur Ren Assoc 1985; 21: 709-11.
4. Livneh A, Zemer D, Langevitz P, Laor A, Sohar E, Pras M,. Colchicine treatment of AA amyloidosis of familial Mediterranean fever: an analysis of factors affecting outcome. Arthritis Rheum 1994; 37: 1804-11. (Pubitemid 24371884)
5. Livneh A, Zemer D, Siegal B, Laor A, Sohar E, Pras M,. Colchicine prevents kidney transplant amyloidosis in familial Mediterranean fever. Nephron 1992; 60: 418-22.
6. International FMF Consortium. Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell 1997; 90: 797-807.
7. French FMF Consortium. A candidate gene for familial Mediterranean fever. Nat Genet 1997; 17: 25-31.
8. Booty MG, Chae JJ, Masters SL, Remmers EF, Barham B, Le JM, et al. Familial Mediterranean fever with a single MEFV mutation: where is the second hit? Arthritis Rheum 2009; 60: 1851-61.
9. Kone-Paut I, Hentgen V, Guillaume-Czitrom S, Compeyrot-Lacassagne S, Tran TA, Touitou I,. The clinical spectrum of 94 patients carrying a single mutated MEFV allele. Rheumatology (Oxford) 2009; 48: 840-2.
10. Lachmann HJ, Sengul B, Yavuzsen TU, Booth DR, Booth SE, Bybee A, et al. Clinical and subclinical inflammation in patients with familial Mediterranean fever and in heterozygous carriers of MEFV mutations. Rheumatology (Oxford) 2006; 45: 746-50. (Pubitemid 43985345)
11. Lidar M, Livneh A,. Familial Mediterranean fever: clinical, molecular and management advancements. Neth J Med 2007; 65: 318-24. (Pubitemid 350011355)
12. Marek-Yagel D, Berkun Y, Padeh S, Abu A, Reznik-Wolf H, Livneh A, et al. Clinical disease among patients heterozygous for familial Mediterranean fever. Arthritis Rheum 2009; 60: 1862-6.
13. Moradian MM, Sarkisian T, Ajrapetyan H, Avanesian N,. Genotype-phenotype studies in a large cohort of Armenian patients with familial Mediterranean fever suggest clinical disease with heterozygous MEFV mutations. J Hum Genet 2010; 55: 389-93.
14. Ozen S,. Changing concepts in familial Mediterranean fever: is it possible to have an autosomal-recessive disease with only one mutation? [editorial]. Arthritis Rheum 2009; 60: 1575-7.
15. Padeh S, Shinar Y, Pras E, Zemer D, Langevitz P, Pras M, et al. Clinical and diagnostic value of genetic testing in 216 Israeli children with Familial Mediterranean fever. J Rheumatol 2003; 30: 185-90. (Pubitemid 36077792)
16. Padeh S, Livneh A, Pras E, Shinar Y, Lidar M, Feld O, et al. Familial Mediterranean Fever in the first two years of life: a unique phenotype of disease in evolution. J Pediatr 2010; 156: 985-9.
17. Padeh S, Livneh A, Pras E, Shinar Y, Lidar M, Feld O, et al. Familial Mediterranean fever in children presenting with attacks of fever alone. J Rheumatol 2010; 37: 865-9.
18. Livneh A, Langevitz P, Zemer D, Zaks N, Kees S, Lidar T, et al. Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum 1997; 40: 1879-85. (Pubitemid 27452541)
19. Yalcinkaya F, Ozen S, Ozcakar ZB, Aktay N, Cakar N, Duzova A, et al. A new set of criteria for the diagnosis of familial Mediterranean fever in childhood. Rheumatology (Oxford) 2009; 48: 395-8.
20. Kondi A, Hentgen V, Piram M, Letierce A, Guillaume-Czitrom S, Kone-Paut I,. Validation of the new paediatric criteria for the diagnosis of familial Mediterranean fever: data from a mixed population of 100 children from the French Reference Centre for Auto-Inflammatory Disorders. Rheumatology (Oxford) 2010; 49: 2200-3.
21. Ozcakar ZB, Yalcinkaya F, Cakar N, Acar B, Bilgic AE, Uncu N, et al. Application of the new pediatric criteria and Tel Hashomer criteria in heterozygous patients with clinical features of FMF. Eur J Pediatr 2011; 170: 1055-7.
22. Pras M, Kastner DL,. Familial Mediterranean fever. In:, Klippel JH, Dieppe PA, editors. Rheumatology. 2nd ed. London: Mosby; 1997. p. 23.1-23.4.
23. Marshall GS, Edwards KM, Lawton AR,. PFAPA syndrome. Pediatr Infect Dis J 1989; 8: 658-9.
24. Hofer M,. What's new in PFAPA syndrome? 2008. URL: http://fmf.igh.cnrs. fr/ISSAID/doc/FMF%20SAID%202008/07.04.08/11.15-Hofer.pdf.
25. Long SS,. Syndrome of periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA)-what it isn't. What is it? J Pediatr 1999; 135: 1-5. (Pubitemid 30180551)
26. Berkun Y, Levy R, Hurwitz A, Meir-Harel M, Lidar M, Livneh A, et al. The familial Mediterranean fever gene as a modifier of periodic fever, aphthous stomatitis, pharyngitis, and adenopathy syndrome. Semin Arthritis Rheum 2011; 40: 467-72.
27. Federici S, Calcagno G, Finetti M, Gallizzi R, Meini A, Vitale A, et al. Clinical impact of MEFV mutations in children with periodic fever in a prevalent western European Caucasian population. Ann Rheum Dis 2012; 71: 1961-5.
28. Kalyoncu M, Acar BC, Cakar N, Bakkaloglu A, Ozturk S, Dereli E, et al. Are carriers for MEFV mutations "healthy"? [published erratum appears in Clin Exp Rheumatol 2007; 25: 507-8 ]. Clin Exp Rheumatol 2006;24:S120-2.
29. Ozen S, Aktay N, Lainka E, Duzova A, Bakkaloglu A, Kallinich T,. Disease severity in children and adolescents with familial Mediterranean fever: a comparative study to explore environmental effects on a monogenic disease. Ann Rheum Dis 2009; 68: 246-8.
30. Berkun Y, Padeh S, Reichman B, Zaks N, Rabinovich E, Lidar M, et al. A single testing of serum amyloid A levels as a tool for diagnosis and treatment dilemmas in familial Mediterranean fever. Semin Arthritis Rheum 2007; 37: 182-8. (Pubitemid 350161805)