Familial Mediterranean fever in the Republic of Crimea: a description of a series of cases with an analysis of historical and ethnographic aspects of the disease
https://doi.org/10.14412/1995-4484-2019-339-344
Abstract
Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disease with a high prevalence in some countries. The carriers of the MEFV gene causing FML are Jews, Armenians, Turks, Arabs and other nationalities of Mediterranean origin. Crimean Tatars are one of the nations that inhabit the Crimean peninsula, who do not formally belong to Mediterranean populations. Until 2016, there were no data on FMF in Crimea among the Crimean Tatar population; however, 15 new cases of FMF have been diagnosed in the Republic of Crimea in the past 2 years. The paper provides data on FML patients and information about the ethnic origin of the Crimean Tatars, explaining the possible origin of mutant alleles in the population.
About the Authors
O. V. Zhogova
V.I. Vernadsky Crimean Federal University; Republican Children's Clinical Hospital
Russian Federation
Russian Federation
4, Academician Vernadsky Prospect, Simferopol, Republic of Crimea 295006.
71, Titov St., Simferopol, Republic of Crimea 295034.
N. V. Lagunova
V.I. Vernadsky Crimean Federal University; Republican Children's Clinical Hospital
Russian Federation
Russian Federation
4, Academician Vernadsky Prospect, Simferopol, Republic of Crimea 295006.
71, Titov St., Simferopol, Republic of Crimea 295034.
S. V. Ivanovsky
V.I. Vernadsky Crimean Federal University; Republican Children's Clinical Hospital
Russian Federation
Competing Interests:
Russian Federation
4, Academician Vernadsky Prospect, Simferopol, Republic of Crimea 295006.
71, Titov St., Simferopol, Republic of Crimea 295034.
Competing Interests:
4, Academician Vernadsky Prospect, Simferopol, Republic of Crimea 295006.
71, Titov St., Simferopol, Republic of Crimea 295034.
S. O. Salugina
V.A. Nasonova Research Institute of Rheumatology
Russian Federation
Russian Federation
34A, Kashirskoe Shosse, Moscow 115522.
M. M. Kostik
Saint Petersburg State Pediatric Medical University
Russian Federation
Russian Federation
2, Litovskaya, Saint Petersburg 194100.
References
1. Aksentijevich I, Kastner DL. Genetics of monogenic autoinflammatory diseases: past successes, future challenges. Nat Rev Rheumatol. 2011;7(8):469-78. doi: 10.1038/nrrheum. 2011.94
2. The International FMF Consortium. Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell. 1997;90(4):797-807. doi: 10.1016/s0092-8674(00)80539-5
3. French FMFC. A candidate gene for familial Mediterranean fever. Nat Genet. 1997;17(1):25-31. doi: 10.1038/ng0997-25
4. Livneh A, Langevitz P, Zemer D, et al. Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum. 1997;40(10):1879-85. doi: 10.1002/art.1780401023
5. Pras M. Familial Mediterranean fever: from the clinical syndrome to the cloning of the pyrin gene. Scand J Rheumatol. 1998;27(2):92-7. doi: 10.1080/030097498440949
6. Yalcinkaya F, Ozen S, Ozcakar ZB, et al. A new set of criteria for the diagnosis of familial Mediterranean fever in childhood. Rheumatology (Oxford). 2009;48(4):395-8. doi: 10.1093/rheumatology/ken509
7. Hentgen V, Grateau G, Kone-Paut I, et al. Evidence-based recommendations for the practical management of Familial Mediterranean Fever. Semin Arthritis Rheum. 2013;43(3):387-91. doi: 10.1016/j.semarthrit.2013.04.011
8. 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):635-41. doi: 10.1136/annrheumdis-2014-206844
9. Yilmaz E, Ozen S, Balci B, et al. Mutation frequency of Familial Mediterranean Fever and evidence for a high carrier rate in the Turkish population. Eur J Hum Genet. 2001;9(7):553-5. doi: 10.1038/sj.ejhg.5200674
10. Touitou I. Standardized testing for mutations in familial Mediterranean fever. Clin Chem. 2003;49(11):1781-2. doi: 10.1373/clinchem.2003.025791
11. Padeh S, Shinar Y, Pras E, et al. Clinical and diagnostic value of genetic testing in 216 Israeli children with Familial Mediterranean fever. J Rheumatol. 2003;30(1):185-90.
12. Ozen S, Demirkaya E, Erer B, et al. EULAR recommendations for the management of familial Mediterranean fever. Ann Rheum Dis. 2016;75(4):644-51. doi: 10.1136/annrheumdis-2015-208690
13. Федоров ЕС, Салугина СО. Семейная средиземноморская лихорадка (переодическая болезнь): история или реальная проблема. Современная ревматология. 2018;12(3):61-9 [Fedorov ES, Salugina SO. Familial Mediterranean fever (periodic disease): history or a real problem. Sovremennaya Revmatologiya = Modern Rheumatology Journal. 2018;12(3):61-9 (In Russ.)]. doi: 10.14412/1996-7012-2018-3-61-69
14. Салугина СО, Кузьмина НН, Федоров ЕС. Аутовоспалительные синдромы – «новая» мультидисциплинарная проблема педиатрии и ревматологии. Педиатрия. Журнал им. Г.Н. Сперанского. 2012;91(5):120-32 [Salugina SO, Kuz'mina NN, Fedorov ES. Auto-inflammatory syndromes – the «new» multidisciplinary problem of pediatrics and rheumatology. Pediatriya. Zhurnal im. G.N. Speranskogo. 2012;91(5):120-32 (In Russ.)].
15. Cattan D. Familial Mediterranean fever: Is low mortality from tuberculosis a specific advantage for MEFV mutation carriers? Mortality from tuberculosis among Muslims, Jewish, French, Italian and Maltese patients in Tunis (Tunisia) in the first half of the 20th century. Clin Exp Rheumatol. 2003;21(Suppl. 30):S53-4.
16. Gü l A. Selective pressures for the high prevalence of MEFV variants induced by smallpox infection in the «Old World»: A hypothesis. Clin Exp Rheumatol. 2006;24(2):213.
17. Дюличев ВП. Крым. История в очерках. Симферополь: Ру- бин; 2005. С. 496 [Dyulichev VP. Krym. Istoriya v ocherkakh [Crimea. History in essays]. Simferopol': Rubin; 2005. P. 496 (In Russ.)].
Review
For citations:
Zhogova O.V., Lagunova N.V., Ivanovsky S.V., Salugina S.O., Kostik M.M. Familial Mediterranean fever in the Republic of Crimea: a description of a series of cases with an analysis of historical and ethnographic aspects of the disease. Rheumatology Science and Practice. 2019;57(3):339-344. (In Russ.) https://doi.org/10.14412/1995-4484-2019-339-344
Views:
830
Email this article 