Skip to main content

Advertisement

SpringerLink
Log in

Enthesopathy in patients with familial Mediterranean fever: increased prevalence in M694 V variant

  • Original Article
  • Published:
Rheumatology International Aims and scope Submit manuscript

Abstract

Enthesopathy is pathology of bony insertions of tendons, ligaments or joint capsules. It is a frequent finding in rheumatic diseases, like ankylosing spondylitis (AS) and Behçet’s disease. Musculoskeletal complaints are common in patients with familial Mediterranean fever (FMF), and these could be a clinical manifestation of enthesopathy. Hence, we investigated the possible association between FMF and enthesopathy. Fifty-six patients with FMF and 11 patients with FMF-associated spondyloarthropathy (FMFS) were enrolled. Forty-seven healthy individuals and 36 patients with AS formed the healthy and diseased control groups. Musculoskeletal complaints were meticulously questioned, and all patients underwent a detailed physical and ultrasonographic (US) examination of the lower limbs. US scorings of enthesopathy was performed according to the Glasgow Ultrasound Enthesitis Scoring System (GUESS). Demographic data, disease characteristics, MEFV genotypes and HLA B27 results were retrieved from the medical records. Patient-reported pain and physical examination findings consistent with enthesopathy were frequent in all groups with the highest prevalence in the FMFS group. Heel was the most common region affected in all patient groups. FMF patients harboring M694 V variant had higher GUESS scores compared to patients with other variants (2.78 ± 2.43 vs. 1.37 ± 1.67, p = 0.026). There was no statistically significant difference in the mean ± SD GUESS scores between healthy subjects and those FMF patients with genetic variants other than M694 V (1.38 ± 1.42 vs. 1.37 ± 1.67, p > 0.05). Enthesopathy may not be a feature of general FMF population; rather, it might be specifically associated with the presence of M694 V variant. Our results further support the previous evidence regarding M694 V mutation and spondyloarthropathy association.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  1. Onen F (2006) Familial Mediterranean fever. Rheumatol Int 26(6):489–496. doi:10.1007/s00296-005-0074-3

    Article  PubMed  Google Scholar 

  2. Brik R, Shinawi M, Kasinetz L, Gershoni-Baruch R (2001) The musculoskeletal manifestations of familial Mediterranean fever in children genetically diagnosed with the disease. Arthritis Rheum 44(6):1416–1419. doi:10.1002/1529-0131(200106)44:6<1416:AID-ART236>3.0.CO;2-6

    Article  PubMed  CAS  Google Scholar 

  3. Majeed HA, Al-Qudah AK, Qubain H, Shahin HM (2000) The clinical patterns of myalgia in children with familial Mediterranean fever. Semin Arthritis Rheum 30(2):138–143. doi:10.1053/sarh.2000.16646

    Article  PubMed  CAS  Google Scholar 

  4. Benjamin M, Toumi H, Ralphs JR, Bydder G, Best TM, Milz S (2006) Where tendons and ligaments meet bone: attachment sites (‘entheses’) in relation to exercise and/or mechanical load. J Anat 208(4):471–490. doi:10.1111/j.1469-7580.2006.00540.x

    Article  PubMed  CAS  Google Scholar 

  5. D’Agostino MA, Olivieri I (2006) Enthesitis. Best Pract Res Clin Rheumatol 20(3):473–486. doi:10.1016/j.berh.2006.03.007

    Article  PubMed  Google Scholar 

  6. Francois RJ, Braun J, Khan MA (2001) Entheses and enthesitis: a histopathologic review and relevance to spondyloarthritides. Curr Opin Rheumatol 13(4):255–264

    Article  PubMed  CAS  Google Scholar 

  7. McGonagle D, Marzo-Ortega H, O’Connor P, Gibbon W, Pease C, Reece R, Emery P (2002) The role of biomechanical factors and HLA-B27 in magnetic resonance imaging-determined bone changes in plantar fascia enthesopathy. Arthritis Rheum 46(2):489–493

    Article  PubMed  Google Scholar 

  8. Slobodin G, Rozenbaum M, Boulman N, Rosner I (2007) Varied presentations of enthesopathy. Semin Arthritis Rheum 37(2):119–126. doi:10.1016/j.semarthrit.2007.01.004

    Article  PubMed  Google Scholar 

  9. Akkoc N, Gul A (2011) Familial Mediterranean fever and seronegative arthritis. Curr Rheumatol Rep 13(5):388–394. doi:10.1007/s11926-011-0191-9

    Article  PubMed  Google Scholar 

  10. Cosan F, Ustek D, Oku B, Duymaz-Tozkir J, Cakiris A, Abaci N, Ocal L, Aral O, Gul A (2010) Association of familial Mediterranean fever-related MEFV variations with ankylosing spondylitis. Arthritis Rheum 62(11):3232–3236. doi:10.1002/art.27683

    Article  PubMed  Google Scholar 

  11. Livneh A, Langevitz P, Zemer D, Zaks N, Kees S, Lidar T, Migdal A, Padeh S, Pras M (1997) Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum 40(10):1879–1885. doi:10.1002/1529-0131(199710)40:10<1879:AID-ART23>3.0.CO;2-M

    Article  PubMed  CAS  Google Scholar 

  12. van der Linden S, Valkenburg HA, Cats A (1984) Evaluation of diagnostic criteria for ankylosing spondylitis. A proposal for modification of the New York criteria. Arthritis Rheum 27(4):361–368

    Article  PubMed  Google Scholar 

  13. Balint PV, Kane D, Wilson H, McInnes IB, Sturrock RD (2002) Ultrasonography of entheseal insertions in the lower limb in spondyloarthropathy. Ann Rheum Dis 61(10):905–910

    Article  PubMed  CAS  Google Scholar 

  14. Braem K, Lories RJ (2011) Insights into the pathophysiology of ankylosing spondylitis: contributions from animal models. Joint Bone Spine. doi:10.1016/j.jbspin.2011.09.008

    PubMed  Google Scholar 

  15. Touitou I (2001) The spectrum of Familial Mediterranean Fever (FMF) mutations. Eur J Hum Genet 9(7):473–483. doi:10.1038/sj.ejhg.5200658

    Article  PubMed  CAS  Google Scholar 

  16. Ureten K, Gonulalan G, Akbal E, Gunes F, Akyurek O, Ozbek M, Ozturk MA (2010) Demographic, clinical and mutational characteristics of Turkish familial Mediterranean fever patients: results of a single center in Central Anatolia. Rheumatol Int 30(7):911–915. doi:10.1007/s00296-009-1073-6

    Article  PubMed  Google Scholar 

  17. Chae JJ, Wood G, Masters SL, Richard K, Park G, Smith BJ, Kastner DL (2006) The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production. Proc Natl Acad Sci USA 103(26):9982–9987. doi:10.1073/pnas.0602081103

    Article  PubMed  CAS  Google Scholar 

  18. Reveille JD, Sims AM, Danoy P, Evans DM, Leo P, Pointon JJ, Jin R, Zhou X, Bradbury LA, Appleton LH, Davis JC, Diekman L, Doan T, Dowling A, Duan R, Duncan EL, Farrar C, Hadler J, Harvey D, Karaderi T, Mogg R, Pomeroy E, Pryce K, Taylor J, Savage L, Deloukas P, Kumanduri V, Peltonen L, Ring SM, Whittaker P, Glazov E, Thomas GP, Maksymowych WP, Inman RD, Ward MM, Stone MA, Weisman MH, Wordsworth BP, Brown MA (2010) Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci. Nat Genet 42(2):123–127. doi:10.1038/ng.513

    Article  PubMed  CAS  Google Scholar 

  19. Tan AL, Marzo-Ortega H, O’Connor P, Fraser A, Emery P, McGonagle D (2004) Efficacy of anakinra in active ankylosing spondylitis: a clinical and magnetic resonance imaging study. Ann Rheum Dis 63(9):1041–1045. doi:10.1136/ard.2004.020800

    Article  PubMed  CAS  Google Scholar 

  20. de Miguel E, Cobo T, Munoz-Fernandez S, Naredo E, Uson J, Acebes JC, Andreu JL, Martin-Mola E (2009) Validity of enthesis ultrasound assessment in spondyloarthropathy. Ann Rheum Dis 68(2):169–174. doi:10.1136/ard.2007.084251

    Article  PubMed  Google Scholar 

Download references

Conflict of interest

None.

Author information

Authors and Affiliations

  1. Division of Rheumatology, Department of Internal Medicine, Faculty of Medicine, Gazi University, Ankara, Turkey

    Abdurrahman Tufan, Rıdvan Mercan, Mehmet Engin Tezcan, Arif Kaya, Berivan Bitik, Mehmet Akif Ozturk, Seminur Haznedaroglu & Berna Goker

  2. İc Hastaliklari ABD, Romatoloji BD, Gazi Universitesi Hastanesi, 8. Kat, 06500, Besevler, Ankara, Turkey

    Abdurrahman Tufan

Authors
  1. Abdurrahman Tufan
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Rıdvan Mercan
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Mehmet Engin Tezcan
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Arif Kaya
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Berivan Bitik
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Mehmet Akif Ozturk
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Seminur Haznedaroglu
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Berna Goker
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Abdurrahman Tufan.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Tufan, A., Mercan, R., Tezcan, M.E. et al. Enthesopathy in patients with familial Mediterranean fever: increased prevalence in M694 V variant. Rheumatol Int 33, 1933–1937 (2013). https://doi.org/10.1007/s00296-013-2669-4

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00296-013-2669-4

Keywords

Search

Navigation