La sclérose systémique : Pathogenèse, diagnostic et prise en charge
Résumé
La sclérose systémique (ScS) est une maladie fibrosante auto-immune qui touche les organes internes et entraîne une morbidité et une mortalité importantes. L’âge moyen des patients au moment du diagnostic est compris entre 33,5 et 59,8 ans, avec une forte prédominance féminine (3,8 à 15 fois plus fréquente).
Références
Jerjen R, Nikpour M, Krieg T, Denton CP, Saracino AM. Systemic sclerosis in adults. Part I: clinical features and pathogenesis. J Am Acad Dermatol. 2022;87(5):937-954.
Bernatsky S, Joseph L, Pineau CA, Belisle P, Hudson M, Clarke AE. Scleroderma prevalence: demographic variations in a population-based sample. Arthritis Rheum. 2009;61(3):400-404.
Chifflot H, Fautrel B, Sordet C, Chatelus E, Sibilia J. Incidence and prevalence of systemic sclerosis: a systematic literature review. Semin Arthritis Rheum. 2008;37(4):223-235.
Zhong L, Pope M, Shen Y, Hernandez JJ, Wu L. Prevalence and incidence of systemic sclerosis: a systematic review and meta-analysis. Int J Rheum Dis. 2019;22(12):2096-2107.
Robinson D, Jr., Eisenberg D, Nietert PJ, Doyle M, Bala M, Paramore C, et al. Systemic sclerosis prevalence and comorbidities in the US, 2001-2002. Curr Med Res Opin. 2008;24(4):1157-1166.
Muntyanu A, Aw K, Kaouache M, Rahme E, Osman M, Baron M, et al. Epidemiology of systemic sclerosis in Quebec, Canada: a population-based study. Lancet Reg Health Am. 2024;35:100790. doi: 10.1016/j.lana.2024.100790
Silman AJ, Howard Y, Hicklin AJ, Black C. Geographical clustering of scleroderma in south and west London. Br J Rheumatol. 1990;29(2):93-96.
Valesini G, Litta A, Bonavita MS, Luan FL, Purpura M, Mariani M, et al. Geographical clustering of scleroderma in a rural area in the province of Rome. Clin Exp Rheumatol. 1993;11(1):41-47.
Diegel R, Black B, Pfau JC, McNew T, Noonan C, Flores R. Case series: rheumatological manifestations attributed to exposure to Libby Asbestiform Amphiboles. J Toxicol Environ Health A. 2018;81(15):734-747.
Thompson AE, Pope JE. Increased prevalence of scleroderma in southwestern Ontario: a cluster analysis. J Rheumatol. 2002;29(9):1867-1873.
Jacobs L. Kahnawake Scleroderma Support Group. Available from: https://sclero.org/scleroderma/support/groups/canada/quebec/kahnawake/a-to-z.html.
Gabrielli A, Avvedimento EV, Krieg T. Scleroderma. N Engl J Med. 2009 360(19):1989-2003.
Feghali-Bostwick C, Medsger TA, Jr., Wright TM. Analysis of systemic sclerosis in twins reveals low concordance for disease and high concordance for the presence of antinuclear antibodies. Arthritis Rheum. 2003;48(7):1956-1963.
Ouchene L, Muntyanu A, Lavoue J, Baron M, Litvinov IV, Netchiporouk E. Toward understanding of environmental risk factors in systemic sclerosis. J Cutan Med Surg. 2021;25(2):188-204.
De Martinis M, Ciccarelli F, Sirufo MM, Ginaldi L. An overview of environmental risk factors in systemic sclerosis. Expert Rev Clin Immunol. 2016;12(4):465-478.
World Health Organisation 2020. How air pollution is destroying our health. 2018. Available from: https://www.who.int/news-room/spotlight/how-air-pollution-is-destroying-our-health.
Zhao JH, Duan Y, Wang YJ, Huang XL, Yang GJ, Wang J. The influence of different solvents on systemic sclerosis: an updated meta-analysis of 14 case-control studies. J Clin Rheumatol. 2016;22(5):253-259.
Asano Y, Jinnin M, Kawaguchi Y, Kuwana M, Goto D, Sato S, et al. Diagnostic criteria, severity classification and guidelines of systemic sclerosis. J Dermatol. 2018; 45(6):633-691.
Joven BE, Almodovar R, Carmona L, Carreira PE. Survival, causes of death, and risk factors associated with mortality in Spanish systemic sclerosis patients: results from a single university hospital. Semin Arthritis Rheum. 2010;39(4):285-293.
Dolcino M, Pelosi A, Fiore PF, Patuzzo G, Tinazzi E, Lunardi C, et al. Gene profiling in patients with systemic sclerosis reveals the presence of oncogenic gene signatures. Front Immunol. 2018;9:449. doi: 10.3389/fimmu.2018.00449
Calderon LM, Pope JE. Scleroderma epidemiology update. Curr Opin Rheumatol. 2021;33(2):122-127.
Peoples C, Medsger TA, Jr., Lucas M, Rosario BL, Feghali-Bostwick CA. Gender differences in systemic sclerosis: relationship to clinical features, serologic status and outcomes. J Scleroderma Relat Disord. 2016;1(2):177-240.
Morgan ND, Shah AA, Mayes MD, Domsic RT, Medsger TA Jr, Steen VD, et al. Clinical and serological features of systemic sclerosis in a multicenter African American cohort: analysis of the genome research in African American scleroderma patients clinical database. Medicine (Baltimore). 2017;96(51):e8980. doi: 10.1097/MD.0000000000008980
van den Hoogen F, Khanna D, Fransen J, Johnson SR, Baron M, Tyndall A, et al. 2013 classification criteria for systemic sclerosis: an American College of Rheumatology/European League against Rheumatism collaborative initiative. Arthritis Rheum. 2013;65(11) 2737-2747.
Avouac J, Fransen J, Walker UA, Riccieri V, Smith V, Muller C, et al. Preliminary criteria for the very early diagnosis of systemic sclerosis: results of a Delphi Consensus Study from EULAR Scleroderma Trials and Research Group. Ann Rheum Dis. 2011;70(3):476-481.
Minier T, Guiducci S, Bellando-Randone S, Bruni C, Lepri G, Czirjak L, et al. Preliminary analysis of the very early diagnosis of systemic sclerosis (VEDOSS) EUSTAR multicentre study: evidence for puffy fingers as a pivotal sign for suspicion of systemic sclerosis. Ann Rheum Dis. 2014;73(12):2087-2093.
Domsic RT. Scleroderma: the role of serum autoantibodies in defining specific clinical phenotypes and organ system involvement. Curr Opin Rheumatol. 2014;26(6):646-652.
Valentini G, Iudici M, Walker UA, Jaeger VK, Baron M, Carreira P, et al. The European Scleroderma Trials and Research group (EUSTAR) task force for the development of revised activity criteria for systemic sclerosis: derivation and validation of a preliminarily revised EUSTAR activity index. Ann Rheum Dis. 2017;76(1):270-276.
Nihtyanova SI, Sari A, Harvey JC, Leslie An, Derret-Smith EC, Fonseca C, et al. Using autoantibodies and cutaneous subset to develop outcome-based disease classification in systemic sclerosis. Arthritis Rheumatol. 2020;72(3):465-476.
Ouchene L, Muntyanu A, Assayag D, Veilleix E, Abril A, Ferrara G, et al. Skin disorders and interstitial lung disease: Part II-the spectrum of cutaneous diseases with lung disease association. J Am Acad Dermatol. 2023;88(4):767-782.
Kahan A, Coghlan G, McLaughlin V. Cardiac complications of systemic sclerosis. Rheumatology. 2009;48(suppl_3):iii45-iii8.
Caron M, Hudson M, Baron M, Nessim S, Steele R, Canadian Scleroderma Research Group. Longitudinal study of renal function in systemic sclerosis. J Rheumatol. 2012;39(9):1829-1834.
Woodworth TG, Suliman YA, Li W, Furst DE, Clements P. Scleroderma renal crisis and renal involvement in systemic sclerosis. Nat Rev Nephrol. 2018;14(2):137.
Shreiner AB, Murray C, Denton C, Khanna D. Gastrointestinal manifestations of systemic sclerosis. J Scleroderma Relat Disord. 2016;1(3):247-256.
Matucci-Cerinic M, Bellando-Randone S, Lepri G, Bruni C, Guiducci S. Very early versus early disease: the evolving definition of the 'many faces' of systemic sclerosis. Ann Rheum Dis. 2013;72(3):319-321.
Jerjen R, Nikpour M, Krieg T, Denton CP, Saracino AM. Systemic sclerosis in adults. Part II: management and therapeutics. J Am Acad Dermatol. 2022;87(5):957-978.
Fukasawa T, Yoshizaki A, Kagebayashi H, Sato S. POS0881 Efficacy and safety of subcutaneous brodalumab, a fully human anti–il-17ra monoclonal antibody, for systemic sclerosis with moderate-to-severe skin thickening: a multicenter, randomized, placebo-controlled, double-blind phase 3 study. Annals of the Rheumatic Diseases. 2022;81(Suppl 1):736. doi: 10.1136/annrheumdis-2022-eular.2519
Spierings J, Chiu YH, Voortman M, van Laar JM. Autologous stem-cell transplantation in systemic sclerosis-associated interstitial lung disease: early action in selected patients rather than escalation therapy for all. Ther Adv Musculoskelet Dis. 2021;13:1759720x211035196. doi: 10.1177/1759720X211035196
Pope JE, Denton CP, Johnson SR, Fernandez-Codina A, Hudson M, Nevskaya T. State-of-the-art evidence in the treatment of systemic sclerosis. Nat Rev Rheumatol. 2023;19(4):212-226.
Del Papa N, Pignataro F, Zaccara E, Maglione W, Minniti A. Autologous hematopoietic stem cell transplantation for treatment of systemic sclerosis. Front immunol. 2018;9:2390. doi:10.3389/fimmu.2018.02390
