Clinical observations of spondyloarthrites in monozygous twins in the Republic of Karelia
Abstract. In developed countries, the prevalence of spondyloarthrites (SpA) among adult population is estimated as 0.54%. Etiology of this group of diseases is not fully understood, but most studies confirm a strong genetic component in their development. SpA diagnosing is a complex problem in therapeutic and rheumatology practice, and referral to a specialist and making the diagnosis are often delayed for several years. Diagnostic difficulties are taking place due to both the low specificity of the disease’s symptoms and the lack of completely reliable biomarkers. In this situation, the analysis of patient’s family history of SpA can help the “first-contact physician” suspect a disease belonging to SpA group and promptly refer the patient for consultation with rheumatologist. Current article describes our experience observing pairs of monozygotic twins having SpA in the Republic of Karelia.Marusenko I.M., Polskaya I.I., Koryakova N.V.
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References
1. Эрдес Ш.Ф., Бадокин В.В., Бочкова А.Г., Бугрова О.В., Гайдукова И.З., Годзенко А.А. с соавт. О терминологии спондилоартритов. Научно-практическая ревматология. 2015;53(6):657–660. (Erdes ShF, Badokin VV, Bochkova AG, Bugrova OV, Gaidukova IZ, Godzenko AA et al. On the terminology of spondyloarthritis. Nauchno-prakticheskaya revmatologiya = Rheumatology Science and Practice. 2015;53(6):657–660 (In Russ.)).
EDN: WYDFJB. https://doi.org/10.26442/00403660.2019.05.000208
2. Costantino F, Breban M, Garchon HJ. Genetics and functional genomics of spondyloarthritis. Front Immunol. 2018;9:1–11.
PMID: 30619293. PMCID: PMC6305624. https://doi.org/10.3389/fimmu.2018.02933
3. Stolwijk C, van Onna M, Boonen A, van Tubergen A. Global prevalence of spondyloarthritis: A systematic review and meta-regression analysis. Arthritis Care Res (Hoboken). 2016;68(9):1320–31.
PMID: 30619293. PMCID: PMC6305624. https://doi.org/10.1002/acr.22831
4. Diaz-Pena R, Castro-Santos P, Duran J, Santiago C, Lucia A. The genetics of spondyloarthritis. J Pers Med. 2020;10(4):151.
PMID: 33023259. PMCID: 7711559. https://doi.org/10.3390/jpm10040151
5. Duchmann R, Lambert C, May E, Hohler T, Marker-Hermann E. CD4+ and CD8+ clonal T cell expansions indicate a role of antigens in ankylosing spondylitis; A study in HLA-B27+ monozygotic twins. Clin Exp Immunol. 2001;123(2):315–22.
PMID: 11207664. PMCID: PMC1905979. https://doi.org/10.1046/j.1365-2249.2001.01440.x
6. Hohler T, Hug R, Schneider PM, Krummenauer F, Gripenberg-Lerche C, Granfors, Marker-Herman E. Аnkylosing spondylitis in monozygotic twins: Studies on immunological parameters. Ann Rheum Dis. 1999;58(7):435–40.
PMID: 10381488. PMCID: PMC1752907. https://doi.org/10.1136/ard.58.7.435.
7. Schlosstein L, Terasaki PI, Bluestone R, Pearson CM. High association of an HL-A antigen, W27 with ankylosing spondylitis. N Engl J Med. 1973;288(14):704–6.
PMID: 4688372. https://doi.org/10.1056/NEJM197304052881403
8. Caffrey MFP, James DCO. Human lymphocyte antigen association in ankylosing spondylitis. Nature. 1973;242(5393):121.
PMID: 4694299. https://doi.org/10.1038/242121a0
9. Brewerton DA, Hart FD, Nicholls A, Caffrey M, James DC, Sturrock RD. Ankylosing spondylitis and HL-A 27. Lancet. 1973;1(7809):904–7.
PMID: 4123836. https://doi.org/10.1016/S0140-6736(73)91360-3
10. Breban M, Costantino F, André C, Chiocchia G, Garchon H-J. Revisiting MHC genes in spondyloarthritis. Curr Rheumatol Rep. 2015;17(6):516.
PMID: 25903667. https://doi.org/10.1007/s11926-015-0516-1
11. Winchester R, Minevich G, Steshenko V, Kirby B, Kane D, Greenberg DA, FitzGerald O. HLA associations reveal genetic heterogeneity in psoriatic arthritis and in the psoriasis phenotype. Arthritis Rheum. 2012;64(4):1134–44.
PMID: 22006066. https://doi.org/10.1002/art.33415
12. De Blecourt JJ, Polman A, de Blecourt-Meindersma T. Hereditary factors in rheumatoid arthritis and ankylosing spondylitis. Ann Rheum Dis. 1961;20(3):215–23.
PMCID: PMC1007211. PMID: 13869952. https://doi.org/10.1136/ard.20.3.215
13. Dernis E, Said-Nahal R, D’Agostino M-A, Aegerter P, Dougados M, Breban M. Recurrence of spondylarthropathy among first-degree relatives of patients: A systematic cross-sectional study. Ann Rheum Dis. 2009;68(4):502–7.
PMID: 18413442. https://doi.org/10.1136/ard.2008.089599
14. Brown MA, Laval SH, Brophy S, Calin A. Recurrence risk modelling of the genetic susceptibility to ankylosing spondylitis. Ann Rheum Dis. 2000;59(11):883–86.
PMID: 11053066. PMCID: PMC1753017. https://doi.org/10.1136/ard.59.11.883
15. Joshi R, Reveille JD, Brown MA, Weisman MH, Ward MM, Gensler LS et al. Is there a higher genetic load of susceptibility loci in familial ankylosing spondylitis? Arthritis Care Res (Hoboken). 2012;64(5):780–84.
PMID: 22231927. PMCID: PMC3335985. https://doi.org/10.1002/acr.21601
16. van der Linden SM, Valkenburg HA, de Jongh BM, Cats A. The risk of developing ankylosing spondylitis in HLA-B27 positive individuals. A comparison of relatives of spondylitis patients with the general population. Arthritis Rheum. 1984;27(3):241–49.
PMID: 6608352. https://doi.org/10.1002/art.1780270301
17. Kim HW, Choe HR, Lee SB, Chang WI, Chae HJ, Moon JY et al. Phenotype difference between familial and sporadic ankylosing spondylitis in Korean patients. J Korean Med Sci. 2014;29(6):782–87.
PMID: 24932078. PMCID. PMC4055810. https://doi.org/10.3346/jkms.2014.29.6.782
18. Brown MA, Kennedy LG, MacGregor AJ, Darke C, Duncan E, Shatford JL et al. Susceptibility to ankylosing spondylitis in twins: The role of genes, HLA, and the environment. Arthritis Rheum. 1997;40(10):1823–28.
PMID: 9336417. https://doi.org/10.1002/art.1780401015
19. Costantino F, Mambu Mambueni H, Said-Nahal R, Garchon HJ, Breban M. What have we learned from family-based studies about spondyloarthritis? Front Genet. 2021;12:671306.
PMID: 34149813. PMCID: PMC8209510. https://doi.org/10.3389/fgene.2021.671306
20. Thomas GP, Brown MA. Genetics and genomics of ankylosing spondylitis. Immunol Rev. 2010;233(1):162–80.
PMID: 20192999. https://doi.org/10.1111/j.0105-2896.2009.00852.x
21. Brown MA, Crane AM, Wordsworth BP. Genetic aspects of susceptibility, severity, and clinical expression in ankylosing spondylitis. Curr Opin Rheumatol. 2002;14(4):354–60.
PMID: 12118167. https://doi.org/10.1097/00002281-200207000-00004
22. Morin M, Hellgren K, Frisell T. Familial aggregation and heritability of ankylosing spondylitis – a Swedish nested case-control study. Rheumatology (Oxford). 2020;59(7):1695–702.
PMID: 31687771. PMCID: PMC7310084. https://doi.org/10.1093/rheumatology/kez519
23. Santo L, Santo IB, Pipitone N Simultaneous occurrence of spondyloarthritis in HLA-B27-negative monozygotic twins. Scand J Rheumatol. 2014;43(6):526–28.
PMID: 25222549. https://doi.org/10.3109/03009742.2014.931458
24. Costantino F, Breban M. Family studies: A useful tool to better understand spondyloarthritis. Joint Bone Spine. 2023;90(5):105588. PMID: 37201576. https://doi.org/10.1016/j.jbspin.2023.105588
About the Authors
Irina M. Marusenko, MD, Dr. Sci. (Medicine), professor of the Department of hospital therapy of the Medical institute, Petrozavodsk State University. Address: 185910, Petrozavodsk, 33 Lenina Avenue.E-mail: imarusenko@yandex.ru
ORCID: https://orcid.org/0000-0001-5407-2622
Irina I. Polskaya, MD, PhD (Medicine), senior lecturer of the Department of hospital therapy of the Medical institute, Petrozavodsk State University. Address: 185910, Petrozavodsk, 33 Lenina Avenue.
E-mail: irina_polskaya82@mail.ru
ORCID: https://orcid.org/0000-0002-4122-5551
Nina V. Koryakova, MD, PhD (Medicine), associate professor, associate professor of the Department of hospital therapy of the Medical institute, Petrozavodsk State University. Address: 185910, Petrozavodsk, 33 Lenina Avenue.
E-mail: tnk28@inbox.ru
ORCID: https://orcid.org/0000-0002-8931-2435



