High prevalence of spondyloarthritis and ankylosing spondylitis among familial Mediterranean fever patients and their first-degree relatives: Further evidence for the connection

Arthritis Research and Therapy

Volumn 15, Issue 1, 2013, Pages

  Akar, Servet ^a   Soysal, Ozgul ^a   Balci, Ali ^a   Solmaz, Dilek ^a   Gerdan, Vedat ^a   Onen, Fatos ^a   Tunca, Mehmet ^a   Akkoc, Nurullah ^a  

^a DOKUZ EYLUL UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ANKYLOSING SPONDYLITIS; ARTICLE; DISEASE PREDISPOSITION; FAMILIAL MEDITERRANEAN FEVER; FEMALE; FIRST DEGREE RELATIVE; GENE FREQUENCY; HUMAN; MAJOR CLINICAL STUDY; MALE; MEDICAL RECORD REVIEW; PREVALENCE; SACROILIITIS; SPONDYLARTHRITIS; COHORT ANALYSIS; COMPLICATION; GENETICS; GENOTYPE; MIDDLE AGED; SPONDYLITIS, ANKYLOSING; TURKEY;

CYTOSKELETON PROTEIN; HLA B27 ANTIGEN; MARENOSTRIN;

ADULT; COHORT STUDIES; CYTOSKELETAL PROTEINS; FAMILIAL MEDITERRANEAN FEVER; FEMALE; GENOTYPE; HLA-B27 ANTIGEN; HUMANS; MALE; MIDDLE AGED; PREVALENCE; SPONDYLARTHRITIS; SPONDYLITIS, ANKYLOSING; TURKEY;

EID: 84872762960     PISSN: 14786354     EISSN: 14786362     Source Type: Journal    
DOI: 10.1186/ar4154     Document Type: Article

References (37)

1. Tunca M, Akar S, Onen F, Ozdogan H, Kasapcopur O, Yalcinkaya F, Tutar E, Ozen S, Topaloglu R, Yilmaz E, Arici M, Bakkaloglu A, Besbas N, Akpolat T, Dinc A, Erken E, Turkish FMF Study Group Familial Mediterranean fever (FMF) in Turkey: results of a nationwide multicenter study. Medicine (Baltimore) 2005, 84:1-11. Turkish FMF Study Group.
2. Brik R, Shinawi M, Kasinetz L, Gershoni-Baruch R. The musculoskeletal manifestations of familial Mediterranean fever in children genetically diagnosed with the disease. Arthritis Rheum 2001, 44:1416-1419. 10.1002/1529-0131(200106)44:6<1416::AID-ART236>3.0.CO;2-6, 11407703.
3. Cefle A, Kamali S, Sayarlioglu M, Inanc M, Ocal L, Aral O, Konice M, Gul A. A comparison of clinical findings of familial Mediterranean fever patients with and without amyloidosis. Rheumatol Int 2005, 25:442-446. 10.1007/s00296-004-0471-z, 15290087.
4. Kasifoglu T, Calisir C, Cansu DU, Korkmaz C. The frequency of sacroiliitis in familial Mediterranean fever and the role of HLA-B27 and MEFV mutations in the development of sacroiliitis. Clinical rheumatology 2009, 28:41-46. 10.1007/s10067-008-0980-3, 18795391.
5. Langevitz P, Livneh A, Zemer D, Shemer J, Mordechai P. Seronegative spondyloarthropathy in familial Mediterranean fever. Semin Arthritis Rheum 1997, 27:67-72. 10.1016/S0049-0172(97)80007-8, 9355205.
6. A candidate gene for familial Mediterranean fever. Nat Genet 1997, 17:25-31.
7. Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. The International FMF Consortium. Cell 1997, 90:797-807. 10.1016/S0092-8674(00)80539-5, 9288758.
8. Stoffman N, Magal N, Shohat T, Lotan R, Koman S, Oron A, Danon Y, Halpern GJ, Lifshitz Y, Shohat M. Higher than expected carrier rates for familial Mediterranean fever in various Jewish ethnic groups. Eur J Hum Genet 2000, 8:307-310. 10.1038/sj.ejhg.5200446, 10854115.
9. Yilmaz E, Ozen S, Balci B, Duzova A, Topaloglu R, Besbas N, Saatci U, Bakkaloglu A, Ozguc M. Mutation frequency of Familial Mediterranean Fever and evidence for a high carrier rate in the Turkish population. Eur J Hum Genet 2001, 9:553-555. 10.1038/sj.ejhg.5200674, 11464248.
10. Lachmann HJ, Sengul B, Yavuzsen TU, Booth DR, Booth SE, Bybee A, Gallimore JR, Soyturk M, Akar S, Tunca M, Hawkins PN. Clinical and subclinical inflammation in patients with familial Mediterranean fever and in heterozygous carriers of MEFV mutations. Rheumatology (Oxford) 2006, 45:746-750.
11. Kalyoncu M, Acar BC, Cakar N, Bakkaloglu A, Ozturk S, Dereli E, Tunca M, Kasapcopur O, Yalcinkaya F, Ozen S. Are carriers for MEFV mutations "healthy"?. Clin Exp Rheumatol 2006, 24:S120-122.
12. Kogan A, Shinar Y, Lidar M, Revivo A, Langevitz P, Padeh S, Pras M, Livneh A. Common MEFV mutations among Jewish ethnic groups in Israel: high frequency of carrier and phenotype III states and absence of a perceptible biological advantage for the carrier state. Am J Med Genet 2001, 102:272-276. 10.1002/ajmg.1438, 11484206.
13. Akkoc N, Sari I, Akar S, Binicier O, Thomas MG, Weale ME, Birlik M, Savran Y, Onen F, Bradman N, Plaster CA. Increased prevalence of M694V in patients with ankylosing spondylitis: additional evidence for a link with familial mediterranean fever. Arthritis Rheum 2010, 62:3059-3063. 10.1002/art.27598, 20533539.
14. Cosan F, Ustek D, Oku B, Duymaz-Tozkir J, Cakiris A, Abaci N, Ocal L, Aral O, Gul A. Association of familial Mediterranean fever-related MEFV variations with ankylosing spondylitis. Arthritis Rheum 2010, 62:3232-3236. 10.1002/art.27683, 20669279.
15. Durmus D, Alayli G, Cengiz K, Yigit S, Canturk F, Bagci H. Clinical significance of MEFV mutations in ankylosing spondylitis. Joint Bone Spine 2009, 76:260-264. 10.1016/j.jbspin.2008.09.011, 19119044.
16. Akar S, Yuksel F, Tunca M, Soysal O, Solmaz D, Gerdan V, Celik A, Sen G, Onen F, Akkoc N. Familial Mediterranean fever: risk factors, causes of death, and prognosis in the colchicine era. Medicine (Baltimore) 2012, 91:131-136.
17. 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, 40:1879-1885. 10.1002/art.1780401023, 9336425.
18. Mor A, Shinar Y, Zaks N, Langevitz P, Chetrit A, Shtrasburg S, Rabinovitz E, Livneh A. Evaluation of disease severity in familial Mediterranean fever. Semin Arthritis Rheum 2005, 35:57-64. 10.1016/j.semarthrit.2005.02.002, 16084225.
19. Akkoc Y, Karatepe AG, Akar S, Kirazli Y, Akkoc N. A Turkish version of the Bath Ankylosing Spondylitis Disease Activity Index: reliability and validity. Rheumatol Int 2005, 25:280-284. 10.1007/s00296-003-0432-y, 14730386.
20. Garrett S, Jenkinson T, Kennedy LG, Whitelock H, Gaisford P, Calin A. A new approach to defining disease status in ankylosing spondylitis: the Bath Ankylosing Spondylitis Disease Activity Index. J Rheumatol 1994, 21:2286-2291.
21. Karatepe AG, Akkoc Y, Akar S, Kirazli Y, Akkoc N. The Turkish versions of the Bath Ankylosing Spondylitis and Dougados Functional Indices: reliability and validity. Rheumatol Int 2005, 25:612-618. 10.1007/s00296-004-0481-x, 15248085.
22. Calin A, Garrett S, Whitelock H, Kennedy LG, O'Hea J, Mallorie P, Jenkinson T. A new approach to defining functional ability in ankylosing spondylitis: the development of the Bath Ankylosing Spondylitis Functional Index. J Rheumatol 1994, 21:2281-2285.
23. Calin A, Porta J, Fries JF, Schurman DJ. Clinical history as a screening test for ankylosing spondylitis. JAMA 1977, 237:2613-2614. 10.1001/jama.1977.03270510035017, 140252.
24. Rudwaleit M, Metter A, Listing J, Sieper J, Braun J. Inflammatory back pain in ankylosing spondylitis: a reassessment of the clinical history for application as classification and diagnostic criteria. Arthritis Rheum 2006, 54:569-578. 10.1002/art.21619, 16447233.
25. Dougados M, van der Linden S, Juhlin R, Huitfeldt B, Amor B, Calin A, Cats A, Dijkmans B, Olivieri I, Pasero G, Veys E, Zeidler H. The European Spondylarthropathy Study Group preliminary criteria for the classification of spondylarthropathy. Arthritis Rheum 1991, 34:1218-1227. 10.1002/art.1780341003, 1930310.
26. van der Linden S, Valkenburg HA, Cats A. Evaluation of diagnostic criteria for ankylosing spondylitis. A proposal for modification of the New York criteria. Arthritis Rheum 1984, 27:361-368. 10.1002/art.1780270401, 6231933.
27. Rudwaleit M, van der Heijde D, Landewe R, Listing J, Akkoc N, Brandt J, Braun J, Chou CT, Collantes-Estevez E, Dougados M, Huang F, Gu J, Khan MA, Kirazli Y, Maksymowych WP, Mielants H, Sørensen IJ, Ozgocmen S, Roussou E, Valle-Oñate R, Weber U, Wei J, Sieper J. The development of Assessment of SpondyloArthritis international Society classification criteria for axial spondyloarthritis (part II): validation and final selection. Ann Rheum Dis 2009, 68:777-783. 10.1136/ard.2009.108233, 19297344.
28. Rudwaleit M, Jurik AG, Hermann KG, Landewe R, van der Heijde D, Baraliakos X, Marzo-Ortega H, Ostergaard M, Braun J, Sieper J. Defining active sacroiliitis on magnetic resonance imaging (MRI) for classification of axial spondyloarthritis: a consensual approach by the ASAS/OMERACT MRI group. Ann Rheum Dis 2009, 68:1520-1527. 10.1136/ard.2009.110767, 19454404.
29. Onen F, Akar S, Birlik M, Sari I, Khan MA, Gurler O, Ergor A, Manisali M, Akkoc N. Prevalence of ankylosing spondylitis and related spondyloarthritides in an urban area of Izmir, Turkey. J Rheumatol 2008, 35:305-309.
30. Dilsen N. Familial Mediterranean fever (periodic disease) associated with ankylopoietic spondylitis. (Apropos of a case). Turk Tip Cemiy Mecm 1963, 29:160-167.
31. Akkoc N, Gul A. Familial Mediterranean fever and seronegative arthritis. Curr Rheumatol Rep 2011, 13:388-394. 10.1007/s11926-011-0191-9, 21695514.
32. Masters SL, Simon A, Aksentijevich I, Kastner DL. Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease Annu Rev Immunol 2009, 27:621-668. 10.1146/annurev.immunol.25.022106.141627, 2996236, 19302049.
33. Richards N, Schaner P, Diaz A, Stuckey J, Shelden E, Wadhwa A, Gumucio DL. Interaction between pyrin and the apoptotic speck protein (ASC) modulates ASC-induced apoptosis. J Biol Chem 2001, 276:39320-39329. 10.1074/jbc.M104730200, 11498534.
34. Martinon F, Tschopp J. Inflammatory caspases: linking an intracellular innate immune system to autoinflammatory diseases. Cell 2004, 117:561-574. 10.1016/j.cell.2004.05.004, 15163405.
35. Sims AM, Timms AE, Bruges-Armas J, Burgos-Vargas R, Chou CT, Doan T, Dowling A, Fialho RN, Gergely P, Gladman DD, Inman R, Kauppi M, Kaarela K, Laiho K, Maksymowych W, Pointon JJ, Rahman P, Reveille JD, Sorrentino R, Tuomilehto J, Vargas-Alarcon G, Wordsworth BP, Xu H, Brown MA, International Genetics of Ankylosing Spondylitis Prospective meta-analysis of interleukin 1 gene complex polymorphisms confirms associations with ankylosing spondylitis. Ann Rheum Dis 2008, 67:1305-1309. International Genetics of Ankylosing Spondylitis.
36. Carter KW, Pluzhnikov A, Timms AE, Miceli-Richard C, Bourgain C, Wordsworth BP, Jean-Pierre H, Cox NJ, Palmer LJ, Breban M, Reveille JD, Brown MA. Combined analysis of three whole genome linkage scans for Ankylosing Spondylitis. Rheumatology (Oxford) 2007, 46:763-771.
37. Burton PR, Clayton DG, Cardon LR, Craddock N, Deloukas P, Duncanson A, Kwiatkowski DP, McCarthy MI, Ouwehand WH, Samani NJ, Todd JA, Donnelly P, Barrett JC, Davison D, Easton D, Evans DM, Leung HT, Marchini JL, Morris AP, Spencer CC, Tobin MD, Attwood AP, Boorman JP, Cant B, Everson U, Hussey JM, Jolley JD, Knight AS, Koch K, Meech E, Nutland S, et al. Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants. Nat Genet 2007, 39:1329-1337. 10.1038/ng.2007.17, 2680141, 17952073.