Relationship Between Familial Mediterranean Fever and Other Rheumatic Diseases: Coincidence or Coexistence?

Year 2022, , 25 - 36, 29.01.2022

Dilek Tezcan , Semral Gülcemal , Muhammet Limon , Muslu Kazım Körez , Sema Yilmaz

https://doi.org/10.46310/tjim.982632

Cited By: 1

Abstract

Background: Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease affecting mainly the ethnic groups of the Mediterranean basin. It has been reported that it can coexist with various systemic inflammatory diseases. This study aimed to obtain information on rheumatic diseases that accompany FMF and evaluate the relation between FMF and such diseases.
Methods: Eighty-four patients diagnosed with FMF and have rheumatic disease comorbidity in the rheumatology clinic between January 2018 - March 2020 were included in this study.
Results: The most common accompanying rheumatic disease was spondyloarthritis with 36 patients. Vasculitides was the second common disease accompanying FMF with 22, followed by connective tissue disease in 13, rheumatoid arthritis in 5, juvenile idiopathic arthritis in 4, gout in 3, and hidradenitis suppurativa in 1 patients. The most common MEFV mutation observed was M694V. There was no significant difference in demographic characteristics and clinical manifestations between M694V mutation types.
Conclusions: In this study, the relation between FMF and various rheumatic diseases was determined. Two new conditions, eosinophilic granulomatous polyangiitis, and scleroderma were detected. The associations may be just coincidental or an extension of the common underlying pathology. To be aware of this association is important to early diagnosis and appropriate treatment.

Keywords

Familial Mediterranean Fever; MEFV mutation; Rheumatic diseases, Familial Mediterranean Fever, MEFV mutation, Rheumatic diseases

References

• Ozdogan H, Ugurlu S. Familial Mediterranean fever. Presse Med. 2019 Feb;48(1 Pt 2):e61-e76. doi:10.1016/j.lpm.2018.08.014.
• Tufan A, Lachmann HJ. Familial Mediterranean fever, from pathogenesis to treatment: a contemporary review. Turk J Med Sci. 2020; 50(SI-2):1591-1610. doi: 10.3906/sag-2008-11.
• Tanatar A, Sönmez HE, Karadağ ŞG, Çakmak F, Çakan M, Demir F, Sözeri B, Ayaz NA. Performance of Tel-Hashomer, Livneh, pediatric and new Eurofever/PRINTO classification criteria for familial Mediterranean fever in a referral center. Rheumatol Int. 2020 Jan;40(1):21-7. doi: 10.1007/s00296-019-04463-w.
• Demirkaya E, Saglam C, Turker T, Koné-Paut I, Woo P, Doglio M, et.al.; Paediatric Rheumatology International Trials Organisations (PRINTO); Eurofever Project. Performance of different diagnostic criteria for familial Mediterranean fever in children with periodic fevers: Results from a Multicenter International Registry. J Rheumatol. 2016 Jan;43(1):154-60. doi: 10.3899/jrheum.141249.
• Skendros P, Papagoras C, Mitroulis I, Ritis K. Autoinflammation: Lessons from the study of familial Mediterranean fever. J Autoimmun. 2019 Nov;104:102305. doi:10.1016/j.jaut.2019.102305.
• Sönmez HE, Batu ED, Özen S. Familial Mediterranean fever: current perspectives. J Inflamm Res. 2016 Mar 17;9:13-20. doi:10.2147/JIR.S91352.
• Kasifoglu T, Bilge SY, Sari I, Solmaz D, Senel S, Emmungil H, Kilic L, Oner SY, Yildiz F, Yilmaz S, Bakirli DE, Tufan MA, Yilmaz S, Yazisiz V, Pehlivan Y, Bes C, Cetin GY, Erten S, Gonullu E, Temel T, Sahin F, Akar S, Aksu K, Kalyoncu U, Direskeneli H, Erken E, Kisacik B, Sayarlioglu M, Korkmaz C. Amyloidosis and its related factors in Turkish patients with familial Mediterranean fever: a multicentre study. Rheumatology (Oxford). 2014 Apr;53(4):741-5. doi:10.1093/rheumatology/ket400.
• Yasar Bilge NS, Sari I, Solmaz D, Senel S, Emmungil H, Kilic L, Yilmaz Oner S, Yildiz F, Yilmaz S, Ersozlu Bozkirli D, Aydin Tufan M, Yilmaz S, Yazisiz V, Pehlivan Y, Bes C, Yildirim Cetin G, Erten S, Gonullu E, Sahin F, Akar S, Aksu K, Kalyoncu U, Direskeneli H, Erken E, Sayarlioglu M, Cınar M, Kasifoglu T. Comparison of early versus late onset familial Mediterranean fever. Int J Rheum Dis. 2018 Apr;21(4):880-4. doi: 10.1111/1756-185X.13259.
• Bouomrani S, Masmoudi I, Teber SB. Familial Mediterranean fever: What associations to screen for? Reumatologia. 2020;58(3):150-4. doi: 10.5114/reum.2020.96688.
• Atas N, Armagan B, Bodakci E, Satis H, Sari A, Bilge NSY, Salman RB, Yardımcı GK, Babaoglu H, Guler AA, Karadeniz H, Kilic L, Ozturk MA, Goker B, Haznedaroglu S, Kalyoncu U, Kasifoglu T, Tufan A. Familial Mediterranean fever is associated with a wide spectrum of inflammatory disorders: results from a large cohort study. Rheumatol Int. 2020 Jan;40(1):41-8. doi: 10.1007/s00296-019-04412-7.
• Akar S, Soysal O, Balci A, Solmaz D, Gerdan V, Onen F, Tunca M, Akkoc N. High prevalence of spondyloarthritis and ankylosing spondylitis among familial Mediterranean fever patients and their first-degree relatives: further evidence for the connection. Arthritis Res Ther. 2013 Jan 28;15(1):R21. doi:10.1186/ar4154.
• Akkoc N, Gul A. Familial Mediterranean fever and seronegative arthritis. Curr Rheumatol Rep. 2011 Oct;13(5):388-94. doi:10.1007/s11926-011-0191-9.
• Watad A, Bragazzi NL, Adawi M, Shoenfeld Y, Comaneshter D, Cohen AD, McGonagle D, Amital H. FMF is associated with a wide spectrum of MHC class I- and allied SpA disorders but not with classical MHC class II-associated autoimmune disease: Insights from a large cohort study. Front Immunol. 2019 Nov 26;10:2733. doi: 10.3389/fimmu.2019.02733.
• Haj-Yahia S, Ben-Zvi I, Lidar M, Livneh A. Familial Mediterranean fever (FMF)-response to TNF-blockers used for treatment of FMF patients with concurrent inflammatory diseases. Joint Bone Spine. 2021 Apr 28;88(5):105201. doi:10.1016/j.jbspin.2021.105201.
• Kaşifoğlu T, Calişir 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. Clin Rheumatol. 2009 Jan;28(1):41-6. doi: 10.1007/s10067-008-0980-3.
• Yıldırım DG, Fidan HK, Gönen S, Söylemezoğlu O. Sacroiliitis associated with familial Mediterranean fever in childhood: a case series and review of literature. Turk J Pediatr. 2020;62(2):175-81. doi:10.24953/turkjped.2020.02.002.
• Li Z, Akar S, Yarkan H, Lee SK, Çetin P, Can G, Kenar G, Çapa F, Pamuk ON, Pehlivan Y, Cremin K, De Guzman E, Harris J, Wheeler L, Jamshidi A, Vojdanian M, Farhadi E, Ahmadzadeh N, Yüce Z, Dalkılıç E, Solmaz D, Akın B, Dönmez S, Sarı İ, Leo PJ, Kenna TJ, Önen F, Mahmoudi M, Brown MA, Akkoc N. Genome-wide association study in Turkish and Iranian populations identify rare familial Mediterranean fever gene (MEFV) polymorphisms associated with ankylosing spondylitis. PLoS Genet. 2019 Apr 4;15(4):e1008038. doi:10.1371/journal.pgen.1008038.
• Yazici A, Ozdemir Isik O, Temiz Karadag D, Cefle A. Are there any clinical differences between ankylosing spondylitis patients and familial Mediterranean fever patients with ankylosing spondylitis? Int J Clin Pract. 2021 Jan;75(1):e13645. doi: 10.1111/ijcp.13645.
• Hodak E, Atzmony L, Pavlovsky L, Comaneshter D, Cohen AD. Hidradenitis suppurativa is associated with familial Mediterranean fever-a population-based study. J Invest Dermatol. 2017 Sep;137(9):2019-21. doi: 10.1016/j. jid.2017.04.024.
• Erden A, Batu ED, Seyhoglu E, Sari A, Sönmez HE, Armagan B, Demir S, Bilgin E, Kilic L, Karadag O, Akdogan A, Bilginer Y, Ertenli I, Kiraz S, Apras Bilgen S, Kalyoncu U. Increased psoriasis frequency in patients with familial Mediterranean fever. Ups J Med Sci. 2018 Mar;123(1):57-61. doi: 10.1080/03009734.2017.1423425.
• Ashida M, Koike Y, Kuwatsuka S, Ichinose K, Migita K, Sano S, Utani A. Psoriasis-like lesions in a patient with familial Turk J Int Med 2022 Familial Mediterranean Fever and Rheumatic Diseases Mediterranean fever. J Dermatol. 2016 Mar;43(3):314-7. doi: 10.1111/1346-8138.13068.
• Beşer ÖF, Çokuğraş FÇ, Kutlu T, Erginöz E, Gülcü D, Kasapçopur Ö, Erkan T. Association of familial Mediterranean fever in Turkish children with inflammatory bowel disease. Turk Pediatri Ars. 2014 Sep 1;49(3):198-202. doi: 0.5152/tpa.2014.1998.
• Aksu K, Keser G. Coexistence of vasculitides with familial Mediterranean fever. Rheumatol Int. 2011 Oct;31(10):1263-74. doi: 10.1007/s00296-011-1840-z.
• Abbara S, Grateau G, Ducharme-Bénard S, Saadoun D, Georgin-Lavialle S. Association of vasculitis and familial Mediterranean fever. Front Immunol. 2019 Apr 12;10:763. doi: 10.3389/fimmu.2019.00763.
• Salehzadeh F, Enteshari Moghaddam A. Coexisting diseases in patients with familial Mediterranean fever. Open Access Rheumatol. 2020 May 28;12:65-71. doi: 10.2147/OARRR.S252071.
• Yildiz M, Adrovic A, Tasdemir E, Baba-Zada K, Aydin M, Koker O, Sahin S, Barut K, Kasapcopur O. Evaluation of coexisting diseases in children with familial Mediterranean fever. Rheumatol Int. 2020 Jan;40(1):57-64. doi: 10.1007/s00296-019-04391-9.
• Can E, Kılınç Yaprak Z, Hamilçıkan Ş, Erol M, Bostan Gayret Y Özgül Yigit Ö. MEFV gene mutations and clinical course in pediatric patients with Henoch-Schönlein purpura. Arch Argent Pediatr. 2018 Jun 1;116(3):e385-91. doi: 10.5546/aap.2018.eng.e385. Ben-Chetrit E, Yazici H. Non-thrombocytopenic purpura in familial Mediterranean fever-comorbidity with HenochSchönlein purpura or an additional rare manifestation of familial Mediterranean fever? Rheumatology (Oxford). 2016 Jul;55(7):1153-8. doi: 10.1093/rheumatology/kev378.
• Tunca M, Ozdogan H. Molecular and genetic characteristics of hereditary autoinflammatory diseases. Curr Drug Targets Inflamm Allergy. 2005 Feb;4(1):77-80. doi:10.2174/1568010053622957.
• Watad A, Tiosano S, Yahav D, Comaneshter D, Shoenfeld Y, Cohen AD, Amital H. Behçet’s disease and familial Mediterranean fever: Two sides of the same coin or just an association? A cross-sectional study‬. Eur J Intern Med. 2017 Apr;39:75-8. doi: 10.1016/j.ejim.2016.10.011.
• Yazici A, Cefle A, Savli H. The frequency of MEFV gene mutations in Behcet’s disease and their relation with clinical findings. Rheumatol Int. 2012 Oct;32(10):3025-30. doi: 10.1007/s00296-011-2011-y.
• Schwartz T, Langevitz P, Zemer D, Gazit E, Pras M, Livneh A. Behcet’s disease in Familial Mediterranean fever: characterization of the association between the two diseases. Semin Arthritis Rheum. 2000 Apr;29(5):286-95. doi: 10.1016/s0049-0172(00)80015-3.
• Tasliyurt T, Yigit S, Rustemoglu A, Gul U, Ates O. Common MEFV gene mutations in Turkish patients with Behcet’s disease. Gene. 2013 Nov 1;530(1):100-3. doi: 10.1016/j.gene.2013.08.026.
• Zerkaoui M, Laarabi FZ, Ajhoun Y, Chkirate B, Sefiani A. A novel single variant in the MEFV gene causing Mediterranean fever and Behçet’s disease: a case report. J Med Case Rep. 2018 Mar 1;12(1):53. doi: 10.1186/s13256-017-1552-4.
• Livneh A, Aksentijevich I, Langevitz P, Torosyan Y, G-Shoham N, Shinar Y, Pras E, Zaks N, Padeh S, Kastner DL, Pras M. A single mutated MEFV allele in Israeli patients suffering from familial Mediterranean fever and Behçet’s disease (FMFBD). Eur J Hum Genet. 2001 Mar;9(3):191-6. doi: 10.1038/sj.ejhg.5200608.
• Limon M, Tezcan D, Gülcemal S, Yilmaz S, Nayman A. Takayasu’s arteritis with familial Mediterranean fever. Clin Exp Rheumatol. 2020 Sep-Oct;38 Suppl 127(5):118.
• Ayaz NA, Tanatar A, Karadağ ŞG, Çakan M, Keskindemirci G, Sönmez HE. Comorbidities and phenotype-genotype correlation in children with familial Mediterranean fever. Rheumatol Int. 2021 Jan;41(1):113-20. doi: 10.1007/s00296-020-04592-7.
• Salehzadeh F, Mohammadikebar Y, Haghi RN, Asl SH, Enteshary A. Familial Mediterranean fever gene mutations and gout as an auto-inflammatory arthropathy. Med Arch. 2019 Feb;73(1):55-7. doi: 10.5455/medarh.2019.73.55-57.
• Sari I, Simsek I, Tunca Y, Kisacik B, Erdem H, Pay S, Cay HF, Gul D, Dinc A. Is there a relationship between gouty arthritis and Mediterranean fever gene mutations?. Rev Bras Reumatol. 2015 Jul-Aug;55(4):325-9 (in Portuguese). doi: 10.1016/j.rbr.2014.10.008.
• Karaarslan A, Kobak S, Kaya I, Intepe N, Orman M, Berdeli A. Prevalence and significance of MEFV gene mutations in patients with gouty arthritis. Rheumatol Int. 2016 Nov;36(11):1585-9. doi: 10.1007/s00296-016-3560-x.
• Yago T, Asano T, Fujita Y, Migita K. Familial Mediterranean fever phenotype progression into anti-cyclic citrullinated peptide antibody-positive rheumatoid arthritis:a case report. Fukushima J Med Sci. 2020 Dec 10;66(3):160-6. doi: 10.5387/fms.2020-07.
• Kokubu H, Ida H, Tanaka T, Fujimoto N. Systemic lupus erythematosus with familial Mediterranean fever: Case report and review of literature. Acta Derm Venereol. 2019 Jul 1;99(9):822-3. doi: 10.2340/00015555-3197.
• Deniz R, Ozen G, Yilmaz-Oner S, Alibaz-Oner F, Erzik C, Aydin SZ, Inanc N, Eren F, Bayalan F, Direskeneli H, Atagunduz P. Familial Mediterranean fever gene (MEFV) mutations and disease severity in systemic lupus erythematosus (SLE): implications for the role of the E148Q MEFV allele in inflammation. Lupus. 2015 Jun;24(7):705-11. doi: 10.1177/0961203314560203.
• Dörtbas F, Garip Y, Güler T, Karci AA. Coexistence of familial Mediterranean fever with ankylosing spondylitis and Sjogren’s syndrome: A rare occurrence. Arch Rheumatol. 2015 Nov 3;31(1):87-90. doi:10.5606/ArchRheumatol.2016.5671.
• Tanaka M, Migita K, Miyashita T, Maeda Y, Nakamura M, Komori A, Ishibashi H, Eguchi K, Kikuchi M, Hirayama K, Yasunami M. Coexistence of familial Mediterranean fever and Sjögren’s syndrome in a Japanese patient. Clin Exp Rheumatol.2007 Sep-Oct;25(5):792.
• Fujita Y, Asano T, Sato S, Furuya MY, Temmoku J, Matsuoka N, Kobayashi H, Watanabe H, Suzuki E, Koga T, Endo Y, Kawakami A, Migita K. Coexistence of mixed connective tissue disease and familial Mediterranean fever in a Japanese patient. Intern Med. 2019 Aug 1;58(15):2235-40. doi: 10.2169/internalmedicine.2376-18.