Bieżący numer
Archiwum
Online first
O czasopiśmie
Redakcja
Rada Naukowa
Wydawca
Standardy etyczne i procedury
Bazy indeksacyjne
Recenzenci
Recenzenci Honorowi
Prenumerata
Kontakt
Najczęściej czytane artykuły
Dla autorów
Opłata za przetwarzanie artykułu (APC)
Książki i Konferencje
Książki
Konferencje
SARS CoV-2/COVID-19
PRACA PRZEGLĄDOWA
Familial Mediterranean fever: What associations to screen for?
1
Sfax Faculty of Medicine, University of Sfax, Tunisia
2
Department of Internal Medicine, Military Hospital of Gabes, Tunisia
Data nadesłania: 12-05-2020
Data ostatniej rewizji: 02-06-2020
Data akceptacji: 08-06-2020
Data publikacji online: 29-06-2020
Data publikacji: 29-06-2020
Reumatologia 2020;58(3):150-154
SŁOWA KLUCZOWE
DZIEDZINY
STRESZCZENIE
Familial Mediterranean fever (FMF) is the most common and best known of hereditary recurrent fever or periodic fever syndromes. It was described in 1945 and genetically characterized in 1992. It is caused by a point mutation in the MEFV gene located on the short arm of chromosome 16. It is particularly frequent among Sephardic Jews, Armenians, Turks and Middle Eastern Arabs, where the prevalence can reach 1/2000 to 1/1000.
Recent publications described its frequent association with other diseases and/or syndromes, particularly those of autoimmune, genetic, and autoinflammatory origin.
The objective of this review is to familiarize healthcare professionals with the main associations to look for in patients followed for FMF. The early detection of these associations makes it possible to improve the management and the prognosis of patients with FMF.
Recent publications described its frequent association with other diseases and/or syndromes, particularly those of autoimmune, genetic, and autoinflammatory origin.
The objective of this review is to familiarize healthcare professionals with the main associations to look for in patients followed for FMF. The early detection of these associations makes it possible to improve the management and the prognosis of patients with FMF.
REFERENCJE (59)
1.
Etem E, Deveci SD, Erol D, et al. Familial Mediterranean Fever: a retrospective clinical and molecular study in the East of Anatolia region of Turkey. Open Rheum J 2010; 4: 1-6, DOI: 10.2174/1874312901004010001.
2.
The French FMF consortium. A candidate gene for familiar Mediterranean fever. Nat Genet 1997; 17: 25-31.
3.
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: 797-807, DOI: 10.1016/s0092-8674(00)80539-5.
4.
Medlej-Hashim M, Loiselet J, Lefranc G, Mégarbané A. Familial Mediterranean Fever (FMF): from diagnosis to treatment. Sante 2004; 14: 261-266.
5.
Tidow N, Chen X, Müller C, et al. Hematopoietic-specific expression of MEFV, the gene mutated in familial Mediterranean fever, and subcellular localization of its corresponding protein, pyrin. Blood 2000; 95: 1451-1455.
6.
Livneh A, Lagevitz P, Zemer D, et al. Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum 1997; 40: 1879-1885, DOI: 10.1002/art.1780401023.
7.
Touitou I. The spectrum of Familial Mediterranean Fever (FMF) mutations. Eur J Hum Genet 2001; 9: 473-483, DOI: 10.1038/sj.ejhg.5200658.
8.
Estublier C, Stankovic Stojanovic K, Bergerot JF, et al. Myositis in a patient with familial Mediterranean fever and spondyloarthritis successfully treated with anakinra. Joint Bone Spine 2013; 80: 645-649, DOI: 10.1016/j.jbspin.2013.03.004.
9.
Akar S, Soysal O, Balci A, et al. 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; 15: R21, DOI: 10.1186/ar4154.
10.
Yigit S, Inanir A, Karakus N, et al. Common Mediterranean fever (MEFV) gene mutations associated with ankylosing spondylitis in Turkish population. Dis Markers 2012; 33: 113-118, DOI: 10.1155/2012/890214.
11.
Aksu K, Keser G. Coexistence of vasculitides with familial Mediterranean fever. Rheumatol Int 2011; 31: 1263-1274, DOI: 10.1007/s00296-011-1840-z.
12.
Ozkan F, Cetin GY, Inci MF, et al. Increased enthesopathy in patients with familial Mediterranean fever: evaluation with a new sonographic enthesitis index. J Ultrasound Med 2013; 32: 325-332, DOI: 10.7863/jum.2013.32.2.325.
13.
Tufan A, Mercan R, Tezcan ME, et al. Enthesopathy in patients with familial Mediterranean fever: increased prevalence in M694 V variant. Rheumatol Int 2013; 33: 1933-1937, DOI: 10.1007/s00296-013-2669-4.
14.
Cosan F, Ustek D, Oku B, et al. Association of familial Mediterranean fever-related MEFV variations with ankylosing spondylitis. Arthritis Rheum 2010; 62: 3232-3236, DOI: 10.1002/art.27683.
15.
Cabral M, Conde M, Brito MJ, et al. Protracted Febrile Myalgia Syndrome with Henoch-Schönlein Purpura: an atypical presentation of Familial Mediterranean Fever. Acta Reumatol Port 2011;36: 69-74.
16.
Girisgen I, Sonmez F, Koseoglu K, et al. Polyarteritis nodosa and Henoch-Schönlein purpura nephritis in a child with familial Mediterranean fever: a case report. Rheumatol Int 2012; 32: 529-533, DOI: 10.1007/s00296-010-1766-x.
17.
Altug U, Ensari C, Sayin DB, Ensari A. MEFV gene mutations in Henoch-Schönlein purpura. Int J Rheum Dis 2013; 16: 347-351, DOI: 10.1111/1756-185X.12072.
18.
He X, Yu C, Zhao P, et al. The genetics of Henoch-Schönlein purpura: a systematic review and meta-analysis. Rheumatol Int 2013; 33: 1387-1395, DOI: 10.1007/s00296-012-2661-4.
19.
Dogan CS, Akman S, Koyun M, et al. Prevalence and significance of the MEFV gene mutations in childhood Henoch-Schönlein purpura without FMF symptoms. Rheumatol Int 2013; 33: 377-380, DOI: 10.1007/s00296-012-2400-x.
20.
Luger S, Harter PN, Mittelbronn M, et al. Brain stem infarction associated with familial Mediterranean fever and central nervous system vasculitis. Clin Exp Rheumatol 2013;31 (3 Suppl 77): 93-95.
21.
Ozçakar ZB, Yalçınkaya F. Vascular comorbidities in familial Mediterranean fever. Rheumatol Int 2011; 3: 1275-1281, DOI: 10.1007/s00296-011-1845-7.
22.
Aytekin S, Aydin F, Akpolat T, et al. Evaluation of nailfold capillaries in familial Mediterranean fever patients. Clin Rheumatol 2011; 30: 255-257, DOI: 10.1007/s10067-010-1609-x.
23.
Alibaz-Oner F, Yilmaz N, Can M, Direskeneli H. A case of Takayasu’s arteritis associated with familial Mediterranean fever. Clin Exp Rheumatol 2012; 30 (3 Suppl 72): S117.
24.
Zihni FY, Kalfa M, Ocakçı PT, et al. Coexistence of Takayasu’s arteritis with familial Mediterranean fever. Rheumatol Int 2012; 32: 1675-1678, DOI: 10.1007/s00296-011-1853-7.
25.
Kuloğlu Z, Kansu A, Ustündağ G, et al. An infant with severe refractory Crohn’s disease and homozygous MEFV mutation who dramatically responded to colchicine. Rheumatol Int 2012; 32: 783-785, DOI: 10.1007/s00296-009-1326-4.
26.
Beşer OF, Kasapçopur O, Cokuğraş FC, et al. Association of inflammatory bowel disease with familial Mediterranean fever in Turkish children. J Pediatr Gastroenterol Nutr 2013; 56: 498-502, DOI: 10.1097/MPG.0b013e31827dd763.
27.
Akyuz F, Besisik F, Ustek D, et al. Association of the MEFV gene variations with inflammatory bowel disease in Turkey. J Clin Gastroenterol 2013; 47: e23-27, DOI: 10.1097/MCG.0b013e3182597992.
28.
Uslu N, Demir H, Balta G, et al. Hemophagocytic syndrome in a child with severe Crohn’s disease and familial Mediterranean fever. J Crohns Colitis 2010; 4: 341-344, DOI: 10.1016/j.crohns.2009.12.005.
29.
Unal A, Dursun A, Emre U, et al. Evaluation of common mutations in the Mediterranean fever gene in Multiple Sclerosis patients: Is it a susceptibility gene? J Neurol Sci 2010; 294: 38-42, DOI: 10.1016/j.jns.2010.04.008.
30.
Unal A, Emre U, Dursun A, Aydemir S. The co-incidence of multiple sclerosis in a patient with familial Mediterranean fever. Neurol India 2009; 57: 672-673, DOI: 10.4103/0028-3886.57790.
31.
Alpayci M, Bozan N, Erdem S, et al. The possible underlying pathophysiological mechanisms for development of multiple sclerosis in familial Mediterranean fever. Med Hypotheses 2012; 78: 717-720, DOI: 10.1016/j.mehy.2012.02.017.
32.
Kümpfel T, Gerdes LA, Wacker T, et al. Familial Mediterranean fever-associated mutation pyrin E148Q as a potential risk factor for multiple sclerosis. Mult Scler 2012; 18: 1229-1238, DOI: 10.1177/1352458512437813.
33.
Yahalom G, Kivity S, Lidar M, et al. Familial Mediterranean fever (FMF) and multiple sclerosis: an association study in one of the world’s largest FMF cohorts. Eur J Neurol 2011; 18: 1146-1150, DOI: 10.1111/j.1468-1331.2011.03356.x.
34.
Bouomrani S, Guermazi M. Multiple Sclerosis and Familial Mediterranean Fever: Myth or Reality? Ann Mult Scler Res 2019; 1: 1003.
35.
Mori S, Yonemura K, Migita K. Familial Mediterranean fever occurring in an elderly Japanese woman with recent-onset rheumatoid arthritis. Intern Med 2013; 52: 385-388, DOI: 10.2169/internalmedicine.52.9102.
36.
Koca SS, Etem EO, Isik B, et al. Prevalence and significance of MEFV gene mutations in a cohort of patients with rheumatoid arthritis. Joint Bone Spine 2010; 77: 32-35, DOI: 10.1016/j.jbspin.2009.08.006.
37.
Migita K, Abiru S, Sasaki O, et al. Coexistence of familial Mediterranean fever and rheumatoid arthritis. Mod Rheumatol 2014; 24: 212-216, DOI: 10.3109/14397595.2013.852843.
38.
Erten S, Erzurum C, Kosker TA, et al. Two cases of familial Mediterranean fever associated with sarcoidosis (Lofgren’s syndrome) and rheumatoid arthritis. Int J Rheum Dis 2013; 16: 373-375, DOI: 10.1111/1756-185X.12004.
39.
Ceri M, Unverdi S, Altay M, et al. Anti-cyclic citrullinated peptides positivity rate in patients with familial Mediterranean fever. Clin Exp Rheumatol 2010; 28 (4 Suppl 60): S58-61.
40.
Ayaz NA, Ozen S, Bilginer Y, et al. MEFV mutations in systemic onset juvenile idiopathic arthritis. Rheumatology (Oxford) 2009; 48: 23-25, DOI: 10.1093/rheumatology/ken409.
41.
Kaya S, Kaptanoglu E, Elden H, Hizmetli S. Coexistence of familial Mediterranean fever and juvenile idiopathic arthritis with osteoporosis successfully treated with etanercept. Intern Med 2010; 49: 619-622, DOI: 10.2169/internalmedicine.49.2777 .
42.
Cantarini L, Lucherini OM, Simonini G, et al. Systemic-onset juvenile idiopathic arthritis complicated by early onset amyloidosis in a patient carrying a mutation in the MEFV gene. Rheumatol Int 2012; 32: 465-467, DOI: 10.1007/s00296-009-1331-7.
43.
Comak E, Dogan CS, Akman S, et al. MEFV gene mutations in Turkish children with juvenile idiopathic arthritis. Eur J Pediatr 2013; 172: 1061-1067, DOI: 10.1007/s00431-013-2003-x.
44.
Rimar D, Rosner I, Rozenbaum M, Zuckerman E. Familial Mediterranean fever: an association with non-alcoholic fatty liver disease. Clin Rheumatol 2011; 30: 987-991, DOI: 10.1007/s10067-011-1718-1.
45.
Inamo Y, Hayashi R, Saito K, et al. A Japanese pediatric patient with coexisting systemic lupus erythematosus and familial Mediterranean fever. Lupus 2013; 22: 1056-1059, DOI: 10.1177/0961203313497117.
46.
Matsuda M, Kishida D, Tsuchiya-Suzuki A, et al. Periodic peritonitis due to familial Mediterranean fever in a patient with systemic lupus erythematosus. Intern Med 2010; 49: 2259-2262, DOI: 10.2169/internalmedicine.49.4043.
47.
Yildiz G, Kayatas M, Uygun Y, et al. Coexistence of systemic lupus erythematosus and familial Mediterranean fever. Intern Med 2010; 49: 767-769, DOI: 10.2169/internalmedicine.49.3102.
48.
Oğuz ID, Gönül M, Çakmak SK, et al. A case of Beau’s lines associated with familial Mediterranean fever. Int J Dermatol 2014; 53: e121-2, DOI: 10.1111/j.1365-4632.2012.05618.x.
49.
Cetin D, Genç Çetin B, Sentürk T, et al. Coexistence of two rare genetic disorders: Kartagener syndrome and familial Mediterranean fever. Mod Rheumatol 2015; 25: 312-314, DOI: 10.3109/14397595.2013.874756.
50.
Erten S, Ceylan GG, Altunoğlu A. Concomitance of Gitelman syndrome and familial Mediterranean fever: A rare case presentation. Ren Fail 2012; 34: 1333-1334, DOI: 10.3109/0886022X.2012.718950.
51.
Zizzo C, Colomba P, Albeggiani G, et al. Misdiagnosis of familial Mediterranean fever in patients with Anderson-Fabry disease. Clin Genet 2013; 83: 576-581, DOI: 10.1111/j.1399-0004.2012.01940.x.
52.
Krums LM, Golovanova EV, Khomeriki SG, et al. Celiac disease is a 33-year-old man with periodic disease. Eksp Klin Gastroenterol 2012; 3: 114-117.
53.
Eguchi M, Miyashita T, Shirouzu H, et al. Coexistence of polymyositis and familial Mediterranean fever. Mod Rheumatol 2013; 23: 374-378, DOI: 10.1007/s10165-012-0649-2.
54.
Bouomrani S, Mesfar R, Ben Ayed M, et al. Juvenile dermatomyositis associated to Familial Mediterranean Fever. Am J Med Case Rep 2019; 7:170-172, DOI: 10.12691/ajmer-7-8-5.
55.
Aslan D. Familial Mediterranean fever with a single MEFV mutation: can a deletion resulting in a-thalassemia be the cause? J Hum Genet 2011; 56: 169-171, DOI: 10.1038/jhg.2010.160.
56.
Miller EB, Friedman JA, Lahav Y, Landau Z. Relapsing polychondritis and familial Mediterranean fever – an association. Clin Rheumatol 2011; 30: 711-713, DOI: 10.1007/s10067-010-1673-2.
57.
Feng J, Zhang Z, Li W, et al. Missense mutations in the MEFV gene are associated with fibromyalgia syndrome and correlate with elevated IL-1beta plasma levels. PLoS One 2009; 4: e8480, DOI: 10.1371/journal.pone.0008480.
58.
Kocak G, Kocak E, Yilmaz SR, et al. MEFV gene mutations in a patient with eosinophilic gastroenteritis. South Med J 2010; 103: 1170-1172, DOI: 10.1097/SMJ.0b013e3181f468b4.
59.
Clementi A, Cruz ND, Granata A, et al. Secondary amyloidosis in a patient carrying mutations in the familial Mediterranean fever (FMF) and tumour necrosis factor receptor-1 syndrome (TRAPS) genes. Clin Kidney J 2013; 6: 613-617, DOI: 10.1093/ckj/sft112.w.
Copyright: © Narodowy Instytut Geriatrii, Reumatologii i Rehabilitacji w Warszawie. This is an Open Access journal, all articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0) License (https://creativecommons.org/licenses/by-nc-sa/4.0/), allowing third parties to copy and redistribute the material in any medium or format and to remix, transform, and build upon the material, provided the original work is properly cited and states its license.
Udostępnij
ARTYKUŁ POWIĄZANY
| eISSN: | 2084-9834 |
| ISSN: | 0034-6233 |
Przetwarzamy dane osobowe zbierane podczas odwiedzania serwisu. Realizacja funkcji pozyskiwania informacji o użytkownikach i ich zachowaniu odbywa się poprzez dobrowolnie wprowadzone w formularzach informacje oraz zapisywanie w urządzeniach końcowych plików cookies (tzw. ciasteczka). Dane, w tym pliki cookies, wykorzystywane są w celu realizacji usług, zapewnienia wygodnego korzystania ze strony oraz w celu monitorowania ruchu zgodnie z Polityką prywatności. Dane są także zbierane i przetwarzane przez narzędzie Google Analytics (więcej).
Możesz zmienić ustawienia cookies w swojej przeglądarce. Ograniczenie stosowania plików cookies w konfiguracji przeglądarki może wpłynąć na niektóre funkcjonalności dostępne na stronie.
Możesz zmienić ustawienia cookies w swojej przeglądarce. Ograniczenie stosowania plików cookies w konfiguracji przeglądarki może wpłynąć na niektóre funkcjonalności dostępne na stronie.
