Familial coexistence of demyelinating diseases and familial Mediterranean fever
Tóm tắt
Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disease characterized by fever and serositis attacks caused by mutations in the MEditerranean FeVer (MEFV) gene encoding the pyrin gene. Gain of the function mutations of the pyrin gene lead to stimulation of pro-inflammatory cytokines. Persistent pro-inflammatory situation in the course of FMF may play a role in the development of some other inflammatory diseases such as Behcet’s disease, psoriasis, and vasculitis. Multiple sclerosis (MS), as a demyelinating disorder, is also more commonly seen in FMF patients compared to the general population. There are scarcely any research reporting that these two diseases coexist in more than one person in the same family. We have discovered cases of FMF and demyelinating disorders in five members of two different families. Besides the two families we are reporting, there are only four other families reported so far. Having combined the data of all these six families, we present a case-based review in this study. We aimed to draw attention of physicians to familial co-occurence of FMF and demyelinating disorders and also to discuss possible mechanisms of the coexistence of these two diseases in light of the literature.
Tài liệu tham khảo
citation_journal_title=J Inflamm Res; citation_title=Familial Mediterranean fever: current perspectives; citation_author=HE Sonmez, ED Batu, S Ozen; citation_volume=9; citation_publication_date=2016; citation_pages=13-20; citation_id=CR1
citation_journal_title=Nat Immunol; citation_title=Pyrininflammasome activation and RhoAsignaling in the autoinflammatory diseases FMF and HIDS; citation_author=YH Park, G Wood, DL Kastner, JJ Chae; citation_volume=17; citation_publication_date=2016; citation_pages=914-921; citation_doi=10.1038/ni.3457; citation_id=CR2
citation_journal_title=Ann Rheum Dis; citation_title=Acute phase response in familial Mediterranean fever; citation_author=C Korkmaz, H Ozdogan, O Kasapçopur, H Yazici; citation_volume=61; citation_publication_date=2002; citation_pages=79-81; citation_doi=10.1136/ard.61.1.79; citation_id=CR3
citation_journal_title=Medicine; citation_title=Familial Mediterranean fever (FMF) in Turkey: results of a nationwide multicenter study; citation_author=M Tunca, H Ozdogan, O Kasapcopur, F Yalcinkaya, E Tutar, R Topaloglu; citation_volume=84; citation_publication_date=2005; citation_pages=1-11; citation_doi=10.1097/01.md.0000152370.84628.0c; citation_id=CR4
citation_journal_title=J Rheumatol; citation_title=Vasculitis in familial Mediterranean fever; citation_author=H Ozdogan, N Arisoy, O Kasapçapur; citation_volume=24; citation_publication_date=1997; citation_pages=323-327; citation_id=CR5
citation_journal_title=Arthritis Res Ther; citation_title=High prevalence of spondyloarthritis and ankylosing spondylitis among familial Mediterranean fever patients and their first-degree relatives: further evidence for the connection; citation_author=S Akar, O Soysal, A Balci, D Solmaz, V Gerdan, F Onen; citation_volume=28; citation_issue=15; citation_publication_date=2013; citation_pages=R21; citation_doi=10.1186/ar4154; citation_id=CR6
citation_journal_title=Rheumatology (Oxford); citation_title=Comorbidities in familial Mediterranean fever: analysis of 2000 genetically confirmed patients; citation_author=B Balcı-Peynircioğlu, Ü Kaya-Akça, ZS Arıcı, E Avcı, ZY Akkaya-Ulum, Ö Karadağ; citation_volume=1; citation_issue=59; citation_publication_date=2020; citation_pages=1372-1380; citation_doi=10.1093/rheumatology/kez410; citation_id=CR7
citation_journal_title=RheumatolInt; citation_title=Evaluation of co-existing diseases in children with familial Mediterranean fever; citation_author=M Yildiz, A Adrovic, E Tasdemir, K Baba-Zada, M Aydin, O Koker; citation_volume=40; citation_publication_date=2020; citation_pages=57-64; citation_doi=10.1007/s00296-019-04391-9; citation_id=CR8
citation_journal_title=Arthritis Rheum; citation_title=Clinical Disease among patients heterozygous for familial Mediterranean fever; citation_author=D Marek-Yagel, Y Berkun, S Padeh, A Abu, H Reznik-Wolf, A Livneh; citation_volume=60; citation_publication_date=2009; citation_pages=1862-1866; citation_doi=10.1002/art.24570; citation_id=CR9
citation_journal_title=J Neurol; citation_title=Inflammatory/demyelinating central nervous system involvement in familial Mediterranean fever (FMF): coincidence or association?; citation_author=G Akman-Demir, A Gül, E Gürol, H Özdoğan, S Bahar; citation_volume=253; citation_publication_date=2006; citation_pages=928-934; citation_doi=10.1007/s00415-006-0137-8; citation_id=CR10
citation_journal_title=Lancet; citation_title=Multiple sclerosis; citation_author=A Compston, A Coles; citation_volume=372; citation_publication_date=2008; citation_pages=1502-1517; citation_doi=10.1016/S0140-6736(08)61620-7; citation_id=CR11
citation_journal_title=Mult Scler; citation_title=Familial Mediterranean fever-associated mutation pyrin E148Q as a potential risk factor for multiple sclerosis; citation_author=T Kümpfel, LA Gerdes, T Wacker, A Blaschek, J Havla, M Krumbholz; citation_volume=18; citation_publication_date=2012; citation_pages=1229-1238; citation_doi=10.1177/1352458512437813; citation_id=CR12
citation_journal_title=Arthritis Rheum; citation_title=Criteria for the diagnosis of familial Mediterranean fever; citation_author=A Livneh, P Langevitz, D Zemer, N Zaks, S Kees, T Lidar, A Migdal; citation_volume=40; citation_publication_date=1997; citation_pages=1879-1885; citation_doi=10.1002/art.1780401023; citation_id=CR13
citation_journal_title=Ann Neurol; citation_title=Recommended diagnostic criteria for multiple sclerosis: guidelines from the international panel on the diagnosis of multiple sclerosis; citation_author=WI McDonald, A Compston, G Edan, D Goodkin, HP Hartung, FD Lublin; citation_volume=50; citation_publication_date=2001; citation_pages=121-127; citation_doi=10.1002/ana.1032; citation_id=CR14
citation_journal_title=Ann Saudi Med; citation_title=Prevalence of MEFV gene mutations in a large cohort of patients with suspected familial Mediterranean fever in Central Anatolia; citation_author=ME Yildirim, HK Kurtulgan, O Ozdemir, H Kilicgun, DS Aydemir, B Baser, I Sezgin; citation_volume=39; citation_publication_date=2019; citation_pages=382-387; citation_doi=10.5144/0256-4947.2019.382; citation_id=CR15
citation_journal_title=MultSclerRelatDisord; citation_title=Worldwide prevalence of familial multiple sclerosis: a systematic review and meta-analysis; citation_author=MH Harirchian, F Fatehi, P Sarraf, NM Honarvar, S Bitarafan; citation_volume=20; citation_publication_date=2018; citation_pages=43-47; citation_id=CR16
citation_journal_title=J NeurolSci; citation_title=Evaluation of common mutations in the Mediterranean fever gene in multiple sclerosis patients: is it a susceptibility gene?; citation_author=A Unal, A Dursun, U Emre, NF Tascilar, H Ankarali; citation_volume=294; citation_issue=1–2; citation_publication_date=2010; citation_pages=38-42; citation_id=CR17
citation_journal_title=Genes Immun; citation_title=Common mutations in the familial Mediterranean fever gene associate with rapid progression to disability in non-Ashkenazi Jewish multiple sclerosis patients; citation_author=Y Shinar, A Livneh, Y Villa, A Pinhasov, I Zeitoun, A Kogan, A Achiron; citation_volume=4; citation_publication_date=2003; citation_pages=197-203; citation_doi=10.1038/sj.gene.6363967; citation_id=CR18
citation_journal_title=Br J Haematol; citation_title=Advances in the understanding of familial Mediterranean fever and possibilities for targeted therapy; citation_author=JJ Chae, I Aksentijevich, DL Kastner; citation_volume=146; citation_publication_date=2009; citation_pages=467Y478; citation_doi=10.1111/j.1365-2141.2009.07733.x; citation_id=CR19
citation_journal_title=Neurology; citation_title=Cytokine accumulations in CSF of multiple sclerosis patients: frequent detection of interleukin-1 and tumor necrosis factor but not interleukin-6; citation_author=SL Hauser, TH Doolittle, R Lincoln, RH Brown, CA Dinarello; citation_volume=40; citation_publication_date=1990; citation_pages=1735-1739; citation_doi=10.1212/WNL.40.11.1735; citation_id=CR20
citation_journal_title=Rheumatol (Oxf); citation_title=Anakinra treatment in patients with familial Mediterranean fever: a single-centre experience; citation_author=S Ugurlu, B Ergezen, BH Egeli, O Selvi, H Ozdogan; citation_volume=9; citation_publication_date=2020; citation_pages=596; citation_doi=10.1093/rheumatology/keaa596; citation_id=CR21
citation_journal_title=J Neuroimmunol; citation_title=Production of IL-1beta and IL-1Ra as risk factors for susceptibility and progression of relapse-onset multiple sclerosis; citation_author=BA Jong, TW Huizinga, EL Bollen, BM Uitdehaag, GP Bosma, MA Buchem; citation_volume=126; citation_issue=1–2; citation_publication_date=2002; citation_pages=172-179; citation_doi=10.1016/S0165-5728(02)00056-5; citation_id=CR22
citation_title=Handbook of Clinical Neurology; citation_inbook_title=Multiple sclerosis genetics; citation_publication_date=2014; citation_pages=193-209; citation_id=CR23; citation_author=BAC Cree; citation_publisher=Elsevier
citation_journal_title=Cell MolBiol; citation_title=Familial Mediterranean fever: observations from a pilot gene expression microarray analysis study; citation_author=R Mahfouz, K Kreidieh, RA Khalek, S Yazbek; citation_volume=63; citation_publication_date=2017; citation_pages=26-28; citation_id=CR24
citation_journal_title=Turk J Gastroenterol; citation_title=Relationship between HLA-DR, HLA-DQ alleles and MEFV gene mutations in familial mediterranean fever (FMF) patients; citation_author=G Kinikli, M Bektas, M Mısırlıoğlu, A Ates, M Turgay, S Tuncer; citation_volume=16; citation_publication_date=2005; citation_pages=143-146; citation_id=CR25
citation_journal_title=Ann Rheum Dis; citation_title=EULAR recommendations for the management of familial Mediterranean fever; citation_author=S Ozen, E Demirkaya, B Erer; citation_volume=75; citation_publication_date=2016; citation_pages=644-651; citation_doi=10.1136/annrheumdis-2015-208690; citation_id=CR26
citation_journal_title=Am J Med; citation_title=Familial paroxysmal polyserositis. Analysis of fifty cases; citation_author=S Siegal; citation_volume=36; citation_publication_date=1964; citation_pages=893-918; citation_doi=10.1016/0002-9343(64)90119-6; citation_id=CR27
citation_journal_title=Neuroepidemiology; citation_title=Stress as a risk factor for multiple sclerosis onset or relapse: a systematic review; citation_author=AK Artemiadis, MC Anagnostouli, EC Alexopoulos; citation_volume=36; citation_publication_date=2011; citation_pages=109-120; citation_doi=10.1159/000323953; citation_id=CR28
citation_journal_title=BMJ; citation_title=Association between stressful life events and exacerbation in multiple sclerosis: a meta-analysis; citation_author=DC Mohr, SL Hart, L Julian, D Cox, D Pelletier; citation_volume=328; citation_issue=7442; citation_publication_date=2004; citation_pages=731; citation_doi=10.1136/bmj.38041.724421.55; citation_id=CR29
citation_journal_title=J NeurolRehabilit; citation_title=Stress and its relationship to acute exacerbations in multiple sclerosis; citation_author=GM Franklin, LM Nelson, RK Heaton, JS Burks, DS Thompson; citation_volume=2; citation_publication_date=1988; citation_pages=7-11; citation_id=CR30