Rheumatology International

, Volume 25, Issue 8, pp 641–644

Sacroiliitis in familial Mediterranean fever and seronegative spondyloarthropathy: importance of differential diagnosis

  • Birol Balaban
  • Evren Yasar
  • Ahmet Ozgul
  • Kemal Dincer
  • Tunc Alp Kalyon
Case Report

Abstract

Familial Mediterranean fever (FMF) is a multisystemic autosomal recessive disease, occasionally accompanied by sacroiliitis. Transient and non-erosive arthritis of the large joints is the most frequent articular involvement. Amyloidosis is also the most significant complication of FMF, leading to end stage renal disease. Here we present three cases of FMF with sacroiliitis and review the literature for spinal arthritic involvement of FMF. All cases were referred to our clinic with a diagnosis of seronegative spondyloarthropathy and with low back pain sourced by sacroiliitis. They also had homozygous M694V gene mutations and negative HLA B27 antigens. Molecular analysis of the gene mutation is recommended during the evaluation of uncertain cases in order to clarify diagnostic discrimination. We suggest that FMF with sacroiliitis, which is rare in rheumatological practice, should be considered in the differential diagnosis of seronegative spondyloarthropathy or other rheumatologic diseases causing spinal involvement.

Keywords

Familial Mediterranean fever Seronegative spondyloarthropathy Sacroiliitis MEFV 

References

  1. 1.
    Pras EAI, Gruberg L, Balow JE, Prosen L, Dean M, Steinberg AD, Pras M, Kastner DL (1992) Mapping of a gene causing familial Mediterranean fever to the short arm of chromosome 16. N Eng J Med 326:1509–1513Google Scholar
  2. 2.
    Yalcınkaya F, Tekin M, Tumer N, Ozkaya N (1997) Protracted arthritis of familial mediterranean fever. Br J Rheumatol 36:1228–1230Google Scholar
  3. 3.
    Incel NA, Saracoglu M, Erdem RH (2003) Seronegative spondyloarthropathy of familial Mediterranean fever. Rheumatol Int 23:41–43Google Scholar
  4. 4.
    Kast Kastner DL (2001) Intermittent and periodic arthritis syndromes. In: Koopman WJ (ed) Arthritis and allied conditions. A textbook of rheumatology, 14th edn. Lippincott Williams and Wilkins, Philadelphia, PA, pp 1400–1437Google Scholar
  5. 5.
    Langevitz P, Livneh A, Zemer D, Shemer J, Pras M (1997) Seronegative spondyloarthropathy in familial Mediterranean fever. Semin Arthritis Rheum 27(2):67–72CrossRefGoogle Scholar
  6. 6.
    Uthman I, Hajj-Ali RA, Arayssi T, Masri AF, Nasr F (2001) Arthritis in familial Mediterranean fever. Rheumatol Int 20:145–148CrossRefPubMedGoogle Scholar
  7. 7.
    Kaushik P, El-Sobkie NI, Shehab D, Malaviya AN (1999) Familial Mediterranean fever with HLA B-27 positive ankylosing spondylitis in a young Armenian man. Clin Exp Rheumatol 17:387–388Google Scholar
  8. 8.
    Tuglular S, Yalcınkaya F, Paydas S, Oner A, Utas C, Bozfakioğlu S, Ataman R, Akpolat T, Ok E, Sen S, Susunsel R, Evrenkaya R, Akoğlu E (2002) A retrospective analysis for aetiology and clinical findings of 287 secondary amyloidosis cases in Turkey. Nephrol Dial Transplant 17:2003–2005Google Scholar
  9. 9.
    Sohar E, Gafni J, Pras M, Heller H (1986) Familial Mediterranean fever: a survey of 470 cases and review of the literature. Q J Med 233:837–847Google Scholar
  10. 10.
    Cefle A, Kamali S, Sayarlioğlu M, Inanc M, Ocal L, Aral O, Konice M, Gul A (2004) A comparison of clinical findings of familial Mediterranean fever patients with and without amyloidosis. Rheumatol Int (in press)Google Scholar
  11. 11.
    Nir-Paz R, Ben-Cherit E, Pikarsky E, Hassin D, Hasin Y, Chajek-Shaul T (2000) Unusual presentation of familial Mediterranean fever. Ann Rheum Dis 59:836–838Google Scholar
  12. 12.
    Ben-Chetrit E, Backenroth R (2001) Amyloidosis induced, end stage renal disease in patients with familial Mediterranean fever is highly associated with point mutations in the MEFV gene. Ann Rheum Dis 60:146–149Google Scholar
  13. 13.
    Shohat M, Magal N, Shohat T, Chen X, Dagan T, Mimouni A, Danon Y, Lotan R, Ogur G, Sirin A, Schlezinger M, Halpern GJ, Schwabe A, Kastner D, Rotter JI, Fischel-Ghodsian N (1999) Phenotype-genotype correlation in familial Mediterranean fever: evidence for an association between Met694Val and amyloidosis. Eur J Hum Genet 7:287–292CrossRefPubMedGoogle Scholar
  14. 14.
    Zaks N, Shinar Y, Padeh S, Lidar M, Mor A, Tokov I, Pras M, Langevitz P, Pras E, Livneh A (2003) Analysis of the three most common MEFV mutations in 412 patients with familial Mediterranean fever. Genetics 5:585–588Google Scholar
  15. 15.
    Tekin M, Yalcinkaya F, Cakar N, Akar N, Misiroglu M,Tastan H, Tumer N (2000) MEFV Mutations in multiplex families with familial Mediterranean fever: is a particular genotype necessary for amyloidosis? Clin Genet 57:430–434Google Scholar
  16. 16.
    Akar N, Misiroglu M, Yalcinkaya F, Akar E, Cakar N, Tumer N, Akcakus H, Tastan H, Matzner Y (2000) MEFV Mutations in Turkish patients suffering from familial Mediterranean fever. Hum Mutat 15:118–119Google Scholar
  17. 17.
    Yalcinkaya F, Cakar N, Misiroglu M, Tumer N, Akar N, Tekin M, Tastan H, Kocak H, Ozkaya N, Elhan AH (2000) Genotype-phenotype correlation in a large group of Turkish patients with familial Mediterrain fever: evidence for mutation-independent amyloidosis. Rheumatology 39:67–72CrossRefPubMedGoogle Scholar
  18. 18.
    Khan MA (1995) HLA B-27 and its subtypes in world populations. Curr Opin Rheumatol 7:263–269Google Scholar
  19. 19.
    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 40:1879–1885PubMedGoogle Scholar
  20. 20.
    Livneh A, Langevitz P (2000) Diagnostic and treatment concerns in familial Mediterranean fever. Baillieres Clin Rheumatol 14:477–498Google Scholar

Copyright information

© Springer-Verlag 2005

Authors and Affiliations

  • Birol Balaban
    • 1
  • Evren Yasar
    • 1
  • Ahmet Ozgul
    • 1
  • Kemal Dincer
    • 1
  • Tunc Alp Kalyon
    • 1
  1. 1.Department of Physical Medicine and RehabilitationGulhane Military Medical AcademyEtlik-AnkaraTurkey

Personalised recommendations