Familial Mediterranean Fever (FMF): Mysterious Presentations and Challenging Points From Diagnosis to Management in Acute Care Settings; A Literature Review

Document Type : Review Article

Authors

1 Department of Surgery, Baqiyatallah University of Medical Sciences, Tehran, Iran

2 Trauma Research Center, Baqiyatallah University of Medical Sciences, Tehran, Iran

3 Cardiovascular Research Center, Tabriz University of Medical Sciences, Tabriz, Iran

4 Department of Emergency Medicine, Baqiyatallah University of Medical Sciences, Tehran, Iran

10.15171/ijtmgh.2019.25

Abstract

Introduction: Familial Mediterranean fever (FMF) is an autosomal recessive disease considered to be the most common entity of a rare group of disorders known as auto-inflammatory syndromes which have acute presentations in emergency settings.
Methods: A search of Web of Science, Google Scholar, Cochrane, and PubMed databases for articles published before January 2019 was performed using relevant keywords. Full-text English articles, including review articles, case series, and experimental studies, were evaluated. Unrelated studies were excluded. Based on the selected keywords, 440 studies were selected for review. Ultimately, 60 met the study criteria for final assessment.
Results: Given the various symptoms and the multiplicity of differential diagnoses, physicians may easily miss diagnosing FMF. Accordingly, emergency medical staff must be trained in order to significantly reduce the number of medical errors and economic costs and to improve the quality of life of involved patients.
Conclusion: Although FMF is already known to be an inflammatory entity, more study and investigation of it is required. There is an educational gap in both medical and general populations that should be filled by using new genetic testing and providing appropriate social and medical education.

Keywords

References

  1. Yonem O, Bayraktar Y. Secondary amyloidosis due to FMF. Hepatogastroenterology. 2007;54(76):1061-1065.
  2. Fonnesu C, Cerquaglia C, Giovinale M, et al. Familial Mediterranean Fever: a review for clinical management. Joint Bone Spine. 2009;76(3):227-233. doi:10.1016/j.jbspin.2008.08.004.
  3. Ureten K, Bostanci A, Akbal E, Gönülalan G, Ozbek M, Oztürk MA. Familial Mediterranean fever with chronic ascites: a case report and a review of literature. Rheumatol Int. 2009;29(12):1477-1480. doi:10.1007/s00296-009-0842-6.
  4. Meinzer U, Quartier P, Alexandra JF, Hentgen V, Retornaz F, Koné- Paut I. Interleukin-1 targeting drugs in familial Mediterranean fever: a case series and a review of the literature. Semin Arthritis Rheum. 2011;41(2):265-271. doi:10.1016/j.semarthrit.2010.11.003.
  5. Gok F, Sari E, Erdogan O, Altun D, Babacan O. Familial Mediterranean fever and IgA nephropathy: case report and review of the literature. Clin Nephrol. 2008;70(1):62-64. doi:10.5414/CNP70062.
  6. Dbouk HA, Uthman IW. An overview of familial Mediterranean fever with emphasis on pyrin and colchicine. J Med Liban. 2008;56(1):35-41.
  7. Leclercq P, Hermesse A, Malaise MG. [Familial Mediterranean fever]. Rev Med Liege. 2004;59(5):320-325.
  8. Ozen S. New interest in an old disease: familial Mediterranean fever. Clin Exp Rheumatol. 1999;17(6):745-749.
  9. Yanmaz MN, Özcan AJ, Savan K. The impact of familial Mediterranean fever on reproductive system. Clin Rheumatol. 2014;33(10):1385-1388. doi:10.1007/s10067-014-2709-9.
  10. Vinceneux P, Pouchot J. [Familial Mediterranean fever, clinical and laboratory findings]. Presse Med. 2005;34(13):938-946. doi:10.1016/S0755-4982(05)84085-0.
  11. Majeed HA, Barakat M. Familial Mediterranean fever (recurrent hereditary polyserositis) in children: analysis of 88 cases. Eur J Pediatr. 1989;148(7):636-641. doi:10.1007/BF00441519.
  12. Estébanez Muñoz M, Gómez Cerezo J, Barbado Hernández FJ. [The spectrum of familial Mediterranean fever]. Rev Clin Esp. 2007;207(10):508-509. doi:10.1157/13111550.
  13. Rigante D, La Torraca I, Avallone L, Pugliese AL, Gaspari S, Stabile A. The pharmacologic basis of treatment with colchicine in children with familial Mediterranean fever. Eur Rev Med Pharmacol Sci. 2006;10(4):173-178.
  14. Orbach H, Ben-Chetrit E. Familial Mediterranean fever - a review and update. Minerva Med. 2001;92(6):421-430.
  15. Dallos T, Ilenčíková D, Kovács L. [Familial Mediterranean fever - clinical picture, diagnosis and treatment]. Vnitr Lek. 2014;60(1):30-37.
  16. Simon A, van der Meer JW, Drenth JP. Familial Mediterranean fever--a not so unusual cause of abdominal pain. Best Pract Res Clin Gastroenterol. 2005;19(2):199-213. doi:10.1016/j.bpg.2004.11.009.
  17. Migita K, Agematsu K. [Clinical aspects of Familial Mediterranean fever]. Nihon Rinsho Meneki Gakkai Kaishi. 2011;34(5):355-360. doi:10.2177/jsci.34.355.
  18. El-Shanti H, Majeed HA, El-Khateeb M. Familial Mediterranean fever in Arabs. Lancet. 2006;367(9515):1016-1024. doi:10.1016/S0140-6736(06)68430-4.
  19. Nucera G, La Regina M, Diaco M, Neri G, Gasbarrini G, Manna R. [Familial Mediterranean fever: an ancient hereditary disease]. Ann Ital Med Int. 2003;18(3):136-148.
  20. Takenaka K, Yanase T, Nagatomo H, Tanaka A, Nawata H. [A case of familial Mediterranean fever with obvious family history]. Nihon Naibunpi Gakkai Zasshi. 1994;70(10):1075-1082. doi:10.1507/endocrine1927.70.10_1075.
  21. Frenkel J, Bemelman FJ, Potter van Loon BJ, Simon A. [Familial Mediterranean fever: not to be missed]. Ned Tijdschr Geneeskd. 2013;157(18):A5784.
  22. Zadeh N, Getzug T, Grody WW. Diagnosis and management of familial Mediterranean fever: integrating medical genetics in a dedicated interdisciplinary clinic. Genet Med. 2011;13(3):263-269. doi:10.1097/GIM.0b013e31820e27b1.
  23. Aksu K, Keser G. Coexistence of vasculitides with familial Mediterranean fever. Rheumatol Int. 2011;31(10):1263-1274. doi:10.1007/s00296-011-1840-z.
  24. Preferred reporting items for systematic review and meta-analysis protocols (PRISMA-P) 2015: elaboration and explanation. BMJ. 2016;354:i4086. doi:10.1136/bmj.i4086.
  25. Schaner PE, Gumucio DL. Familial Mediterranean fever in the post-genomic era: how an ancient disease is providing new insights into inflammatory pathways. Curr Drug Targets Inflamm Allergy. 2005;4(1):67-76. doi:10.2174/1568010053622803.
  26. Soriano A, Manna R. Familial Mediterranean fever: new phenotypes. Autoimmun Rev. 2012;12(1):31-37. doi:10.1016/j.autrev.2012.07.019.
  27. Shohat M, Halpern GJ. Familial Mediterranean fever--a review. Genet Med. 2011;13(6):487-498. doi:10.1097/GIM.0b013e3182060456.
  28. Bhat A, Naguwa SM, Gershwin ME. Genetics and new treatment modalities for familial Mediterranean fever. Ann N Y Acad Sci. 2007;1110:201-208. doi:10.1196/annals.1423.022.
  29. Mor A, Gal R, Livneh A. Abdominal and digestive system associations of familial Mediterranean fever. Am J Gastroenterol. 2003;98(12):2594-2604. doi:10.1111/j.1572-0241.2003.08784.x.
  30. Moore PJ, Mansour A, McDonald JD, Kemp A, Kamath KR, Dorney SF. Familial Mediterranean fever in six Australian children. Med J Aust. 1989;151(2):108-110. doi:10.5694/j.1326-5377.1989.tb101171.x.
  31. Samuels J, Aksentijevich I, Torosyan Y, et al. Familial Mediterranean fever at the millennium. Clinical spectrum, ancient mutations, and a survey of 100 American referrals to the National Institutes of Health. Medicine (Baltimore). 1998;77(4):268-297. doi:10.1097/00005792-199807000-00005.
  32. Ozturk MA, Kanbay M, Kasapoglu B, et al. Therapeutic approach to familial Mediterranean fever: a review update. Clin Exp Rheumatol. 2011;29(4 Suppl 67):S77-86.
  33. Vinceneux P, Pouchot J. [Familial Mediterranean fever among the autoimmune diseases]. Presse Med. 2005;34(13):947-957. doi:10.1016/S0755-4982(05)84086-2.
  34. Rohani P, Najafi Sani M, Ahmadi M, Ziaee V. A Case of Eosinophilic Esophagitis Accompanying Familial Mediterranean Fever. Case Rep Gastrointest Med. 2017;2017:6863921. doi:10.1155/2017/6863921.
  35. Akpolat T, Özkaya O, Özen S. Homozygous M694V as a risk factor for amyloidosis in Turkish FMF patients. Gene. 2012;492(1):285- 289. doi:10.1016/j.gene.2011.10.012.
  36. Nickavar A. Recurrent Macroscopic Hematuria and Abdominal Pain: Questions and Answers. Iran J Public Health. 2015;44(8):1143-1145.
  37. Dotters-Katz S, Kuller J, Price T. The impact of familial Mediterranean fever on women’s health. Obstet Gynecol Surv. 2012;67(6):357-364. doi:10.1097/OGX.0b013e318259ed3a.
  38. Rigante D, Lopalco G, Tarantino G, Compagnone A, Fastiggi M, Cantarini L. Non-canonical manifestations of familial Mediterranean fever: a changing paradigm. Clin Rheumatol. 2015;34(9):1503-1511. doi:10.1007/s10067-015-2916-z.
  39. Ozen S, Demirkaya E, Duzova A, et al. FMF50: a score for assessing outcome in familial Mediterranean fever. Ann Rheum Dis. 2014;73(5):897-901. doi:10.1136/annrheumdis-2013-204719.
  40. Ben-Zvi I, Livneh A. Chronic inflammation in FMF: markers, risk factors, outcomes and therapy. Nat Rev Rheumatol. 2011;7(2):105-112. doi:10.1038/nrrheum.2010.181.
  41. Yildiz G, Kayatas M, Uygun Y, Timucin M, Candan F. Coexistence of systemic lupus erythematosus and familial Mediterranean fever. Intern Med. 2010;49(8):767-769. doi:10.2169/internalmedicine.49.3102.
  42. Nursal AF, Turkmen E, Uzun Kaya S, et al. Angiotensin converting enzyme gene insertion/deletion variant and familial Mediterranean fever-related amyloidosis. Iran J Kidney Dis. 2018;12(3):150-155.
  43. Aghdashi M, Seidmardani SM, Vossoughian S, Seyed Mokhtari SA. Very Rare Presentation of Cerebrovascular Accident in 20-Year-Old Man With Familial Mediterranean Fever-Case Report. Clin Med Insights Case Rep. 2018;11:1179547617749208. doi:10.1177/1179547617749208.
  44. Lidar M, Pras M, Langevitz P, Livneh A. Thoracic and lung involvement in familial Mediterranean fever (FMF). Clin Chest Med. 2002;23(2):505-511. doi:10.1016/S0272-5231(01)00002-8.
  45. Halabe-Cherem J, Hamui-Sutton A, Cohen-Cohen S, et al. [Recurrent pericardial effusion due to familiar Mediterranean fever]. Rev Med Inst Mex Seguro Soc. 2009;47(2):211-214.
  46. Medlej-Hashim M, Loiselet J, Lefranc G, Mégarbané A. [Familial Mediterranean Fever (FMF): from diagnosis to treatment]. Sante. 2004;14(4):261-266.
  47. Ozen S, Demirkaya E, Erer B, et al. EULAR recommendations for the management of familial Mediterranean fever. Ann Rheum Dis. 2016;75(4):644-651. doi:10.1136/annrheumdis-2015-208690.
  48. Wu B, Xu T, Li Y, Yin X. Interventions for reducing inflammation in familial Mediterranean fever. Cochrane Database Syst Rev. 2015(3):CD010893. doi:10.1002/14651858.CD010893.pub2.
  49. Sozeri B, Kasapcopur O. Biological agents in familial Mediterranean fever focusing on colchicine resistance and amyloidosis. Curr Med Chem. 2015;22(16):1986-1991. doi:10.2174/0929867322666150311152300.
  50. El-Shanti HE. Familial Mediterranean Fever. Saudi Med J. 2001;22(2):104-109.
  51. Salehzadeh F, Emami D, Zolfegari AA, et al. Familial Mediterranean fever in northwest of Iran (Ardabil): the first global report from Iran. Turk J Pediatr. 2008;50(1):40-44.
  52. Ozen S, Bilginer Y. A clinical guide to autoinflammatory diseases: familial Mediterranean fever and next-of-kin. Nat Rev Rheumatol. 2014;10(3):135-147. doi:10.1038/nrrheum.2013.174.
  53. Shamov IA. [Familial Mediterranean fever (paroxismal polyserositis, familial recurring polyserositis, periodic disease)]. Klin Med (Mosk). 2014;92(3):31-34.
  54. Ozen S. Familial Mediterranean fever: revisiting an ancient disease. Eur J Pediatr. 2003;162(7-8):449-454. doi:10.1007/s00431-003-1223-x.
  55. Beheshtian M, Izadi N, Kriegshauser G, et al. Prevalence of common MEFV mutations and carrier frequencies in a large cohort of Iranian populations. J Genet. 2016;95(3):667-674. doi:10.1007/s12041-016-0682-6.
  56. Salehzadeh F, Jafari Asl M, Hosseini Asl S, Jahangiri S, Habibzadeh S. MEFV gene profile in Northwest of Iran, twelve common MEFV gene mutations analysis in 216 patients with Familial Mediterranean Fever. Iran J Med Sci. 2015;40(1):68-72.
  57. Jabbarpour Bonyadi M, Gerami SM, Somi MH, Dastgiri S. MEFV mutations in Northwest of Iran: a cross sectional study. Iran J Basic Med Sci. 2015;18(1):53-57. doi:10.22038/IJBMS.2015.3889.
  58. Giancane G, Ter Haar NM, Wulffraat N, et al. Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever. Ann Rheum Dis. 2015;74(4):635-641. doi:10.1136/annrheumdis-2014-206844.
  59. Haddad JJ. The role of inflammatory cytokines and NF-kappaB/MAPK signaling pathways in the evolution of familial Mediterranean fever: current clinical perspectives and potential therapeutic approaches. Cell Immunol. 2009;260(1):6-13. doi:10.1016/j.cellimm.2009.08.003.
  60. Jabbarpour Bonyadi M, Somi MH, Pourmousavi Khoshknab MM, Eslami F, Montazam M, Gerami SM. FMF Genotype-phenotype correlation in Iranian Azeri Turks: Association between M694V/R761H mutation and amyloidosis. Iran J Basic Med Sci. 2015;18(7):659-663.
  61. Salah S, El-Masry SA, Sheba HF, El-Banna RA, Saad W. Bone mineral density in Egyptian children with familial Mediterranean fever. Iran J Med Sci. 2016;41(1):2-8.
International Journal of Travel Medicine and Global Health
Volume 7, Issue 4 - Serial Number 27
December 2019
Pages 118-122

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History

  • Receive Date: 14 July 2019
  • Revise Date: 14 October 2019
  • Accept Date: 17 November 2019

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