476
Views
0
CrossRef citations to date
0
Altmetric
REVIEW

Towards Early Diagnosis of Mixed Connective Tissue Disease: Updated Perspectives

, , , & ORCID Icon
Pages 79-89 | Received 25 May 2023, Accepted 21 Jul 2023, Published online: 26 Jul 2023

References

  • Sharp GC, Irvin WS, Tan EM, Gould RG, Holman HR. Mixed connective tissue disease—an apparently distinct rheumatic disease syndrome associated with a specific antibody to an extractable nuclear antigen (ENA). Am J Med. 1972;52(2):149–159. doi:10.1016/0002-9343(72)90064-2
  • Sharp GC. Diagnostic criteria for classification of MCTD. In: Kasukawa R, Sharp GC, editors. Mixed Connective Tissue Disease and Anti-Nuclear Antibodies. Amsterdam: Elsevier Science Publishers B.V. (Biomedical Division); 1987:23–30.
  • Alarcón-Segovia D, Villarreal M. Classification and diagnostic criteria for mixed connective tissue disease. In: Kasukawa R, Sharp GC, editors. Mixed Connective Tissue Disease and Antinuclear Antibodies. Amsterdam: Elsevier Science Publishers B.V. (Biomedical Division); 1987:33–40.
  • Kasukawa R, Tojo T, Miyawaki S. Preliminary diagnostic criteria for classification of mixed connective tissue disease. In: Kasukawa R, Sharp GC, editors. Mixed Connective Tissue Disease and Anti-Nuclear Antibodies. Amsterdam: Elsevier Science Publishers B.V. (Biomedical Division); 1987:41–47.
  • Kahn MF, Appelboom T. Syndrome de Sharp. In: Kahn MF, Peltier AP, Mayer O, Piette JC, editors. Les maladies systémiques. 3rd ed. Paris: Flammarion; 1991:545–556.
  • Tanaka Y, Kuwana M, Fujii T, et al. 2019 Diagnostic criteria for mixed connective tissue disease (MCTD): from the Japan Research Committee of the Ministry of Health, Labor, and Welfare for systemic autoimmune disease. Mod Rheumatol. 2021;31(1):29–33. doi:10.1080/14397595.2019.1709944
  • Ungprasert P, Crowson CS, Chowdhary VR, Ernste FC, Moder KG, Matteson EL. Epidemiology of mixed connective tissue disease, 1985–2014: a population-based study. Arthritis Care Rex. 2016;68(12):1843–1848. doi:10.1002/acr.22872
  • Gunnarson R, Molberg O, Gilboe IM, Gran JT. The prevalence and incidence of mixed connective tissue disease: a national multicentre survey of Norwegian patients. Ann Rheum Dis. 2011;70(6):1047–1051. doi:10.1136/ard.2010.143792
  • Hoffman RW, Rettenmaier LJ, Takeda Y, et al. Human autoantibodies against the 70-kD polypeptide of U1 small nuclear RNP are associated with HLA-Dr4 among connective tissue disease patients. Arthr Rheum. 1990;33:666–673. doi:10.1002/art.1780330509
  • Zhao N, Smargiassi A, Chen H, Widdifield J, Bernatsky S. Systemic autoimmune rheumatic diseases and multiple industrial air pollutant emissions: a large general population Canadian cohort analysis. Environ Int. 2023;174:107920. doi:10.1016/j.envint.2023.107920
  • Prokop J, Jagodzinski PP. Identification of retroviral conserved pol sequences in serum of mixed connective tissue disease and systemic sclerosis patients. Biomed Pharmacother. 2004;58(1):61–64. doi:10.1016/j.biopha.2003.10.001
  • Lerner MR, Steitz JA. Antibodies to small nuclear RNAs complexed with proteins are produced by patients with systemic lupus erythematosus. Proc Natl Acad Sci. 1979;76(11):5495–5499. doi:10.1073/pnas.76.11.5495
  • Greidinger EL, Zang YJ, Jaimes K, Martinez L, Nassiri M, Hoffman RW. CD4+ T cells target epitopes residing within the RNA-binding domain of the U1-70-kDa small nuclear ribonucleoprotein autoantigen and have restricted TCR diversity in an HLA-Dr4-transgenic murine model of mixed connective tissue disease. J Immunol. 2008;180(12):8444–8454. doi:10.4049/jimmunol.180.12.8444
  • Keith MP, Moratz C, Tsokos GC. Anti-RNP immunity: implication for tissue injury and the pathogenesis of connective tissue disease. Autoimmun Rev. 2007;6(4):232–236. doi:10.1016/j.autrev.2006.08.007
  • Paradowska-Gorycka A. U1-RNP and TLR receptors in the pathogenesis of mixed connective tissue disease. Part I. The U1-RNP complex and its biological significance in the pathogenesis of mixed connective tissue disease. Reumatologia. 2015;53(3):94–100. doi:10.5114/reum.2015.51509
  • Hof D, Cheung K, De Rooij D, et al. Autoantibodies specific for apoptotic U1-70K are superior serological markers for mixed connective tissue disease. Arthritis Res Ther. 2005;7(2):R302–9. doi:10.1186/ar1490
  • Xiang W, Dong R, Li M, Liu B, Ma Z, Yang Q. The role of anti-U1 RNP antibody in connective tissue disease-associated pulmonary artery hypertension: a systematic review and meta-analysis. J Clin Med. 2023;12(1):13. doi:10.3390/jcm12010013
  • Sen S, Sinhamahapatra P, Chudhuri S, et al. Cutaneous manifestations of mixed connective tissue disease: study from a tertiary care hospital in eastern India. Indian J Dermatol. 2014;59(1):35–40. doi:10.4103/0019-5154.123491
  • Pope JE. Other manifestations of mixed connective tissue disease. Rheum Dis Clin North Am. 2005;31(3):519–533. doi:10.1016/j.rdc.2005.04.011
  • Takasaki Y, Yamanaka K, Takasaki C, et al. Anticyclic citrullinated peptide antibodies in patients with mixed connective tissue disease. Mod Rheumatol. 2004;14(5):367. doi:10.3109/s10165-004-0325-2
  • Ramos-Niembro F, Alarcon-Segovia D, Hernandez-Ortiz J. Articular manifestation of mixed connective tissue disease. Arthritis Rheum. 1979;22(1):43. doi:10.1002/art.1780220107
  • Hall S, Hanrahan P. Muscle involvement in mixed connective tissue disease. Rheum Dis Clin North Am. 2005;31(2):509. doi:10.1016/j.rdc.2005.04.003
  • Vianna MA, Borges CT, Borba EF, Caleiro MT, Bonfà E, Marie SK. Myositis in mixed connective tissue disease: a unique syndrome characterized by immunohistopathologic elements of both polymyositis and dermatomyositis. Arq neuropsiquiatr. 2004;62(4):923. doi:10.1590/S0004-282X2004000600001
  • Sambataro G, Ferrara CA, Spadaro C, et al. A new method for the assessment of myalgia in interstitial lung disease: association with positivity for myositis-specific and myositis-associated antibodies. Diagnostics. 2022;12(5):1139. doi:10.3390/diagnostics12051139
  • Nica AE, Alexa LM, Ionescu AO, Andronic O, Padararu DN. Esophageal disorders in mixed connective tissue disease. J Med Life. 2016;9(2):141–143.
  • Marshall JB, Kretschmar JM, Gerhardt DC, et al. gastrointestinal manifestations of mixed connective tissue disease. Gastroenterology. 1990;98(5 pt 1):1232. doi:10.1016/S0016-5085(12)90338-8
  • Ungprasert P, Wannatong T, Panichsillapakit T, et al. Cardiac involvement in mixed connective tissue disease: a systematic review. Int J Cardiol. 2014;171(3):326–330. doi:10.1016/j.ijcard.2013.12.079
  • Alpert MA, Goldberg SH, Singsen BH, et al. cardiovascular manifestations of mixed connective tissue disease in adults. Circulation. 1983;68(6):1182. doi:10.1161/01.CIR.68.6.1182
  • Chaigne B, Chevalier K, Boucly A, et al. In-depth characterization of pulmonary arterial hypertension in mixed connective tissue disease: a French national multicenter study. Rheumatology. 2023. doi:10.1093/rheumatology/kead055
  • Fayed H, Coghlan JG. Pulmonary hypertension associated with connective tissue disease. Semin Respir Crit Care med. 2019;40(2):173–183. doi:10.1055/s-0039-1685214
  • Jeganathan N, Sathananthan M. Connective tissue disease-related interstitial lung disease: prevalence, patterns, predictors, prognosis, and treatment. Lung. 2020;198(5):735. doi:10.1007/s00408-020-00383-w
  • Sambataro D, Sambataro G, Pignataro F, et al. Patients with interstitial lung disease secondary to autoimmune diseases: how to recognize them? Diagnostics. 2020;10(4):208. doi:10.3390/diagnostics10040208
  • Prakash UBS. Respiratory complications in mixed connective tissue disease. Clin Chest Med. 1998;19(4):733–746. doi:10.1016/S0272-5231(05)70113-1
  • Bennett RM, Bong DM, Spargo BH. Neuropsychiatric problems in mixed connective tissue disease. Am J Med. 1978;65(6):955. doi:10.1016/0002-9343(78)90747-7
  • Hojaili B, Barland P. Trigeminal neuralgia as the first manifestation of mixed connective tissue disorder. J Clin Rheumatol. 2006;12(3):145. doi:10.1097/01.rhu.0000222045.70861.a5
  • Lundberg IE. The prognosis of mixed connective tissue disease. Rheum Dis Clin North Am. 2005;31(3):535. doi:10.1016/j.rdc.2005.04.005
  • Kitridou RC, Akmal M, Turkel SB, Ehresmann GR, Quismorio FB, Massry SG. Renal involvement in mixed connective tissue disease: a longitudinal clinicopathologic study. Semin Arthritis Rheum. 1986;16(2):135. doi:10.1016/0049-0172(86)90047-8
  • John KJ, Sadiq M, George T, et al. Clinical and immunological profile of mixed connective tissue disease and a comparison of four diagnostic criteria. Int J Rheumatol. 2020;2020:9692030. doi:10.1155/2020/9692030
  • Wanzenried A, Garaiman A, Jordan S, Distler O, Maurer B. the enigma of mixed connective tissue disease- challenges in routine care. Clin Rheumatol. 2022;41(11):3503–3511. doi:10.1007/s10067-022-06286-w
  • Cappelli S, Bellando Randone S, Martinović D, et al. ”To be or not to be”, ten years after: evidence for mixed connective tissue disease as a distinct entity. Semin Arthritis Rheum. 2012;41(4):589–598. doi:10.1016/j.semarthrit.2011.07.010
  • Ciancio N, Pavone M, Torrisi SE, et al. Contribution of pulmonary function tests (PFTs) to the diagnosis and follow up of connective tissue diseases. Multidiscip Respir Med. 2019;15:14–17.
  • Maddison PJ, Reichlin M. Quantitation of precipitating antibodies to certain soluble nuclear antigens in SLE. Arthritis Rheum. 1977;20(3):819–824. doi:10.1002/art.1780200310
  • Chan EKL, von Muhlen CA, Fritzler MJ, et al. The international Consensus on ANA patterns (ICAP) in 2021- the 6th workshop and current perspectives. J Appl Lab Med. 2022;7(1):322–330. doi:10.1093/jalm/jfab140
  • Arbuckle MR, McClain MT, Rubertone MV, et al. Development of autoantibodies before the clinical onset of systemic lupus erythematosus. N Eng J Med. 2003;349(16):1526–1533. doi:10.1056/NEJMoa021933
  • Usuba FS, Lopez JB, Guller R, et al. Sjӧgren’s syndrome: an underdiagnosed condition in mixed connective tissue disease. Clinics. 2014;69(3):158–162. doi:10.6061/clinics/2014(03)02
  • Pizzorni C, Ferrari G, Schenone C, et al. Capillaroscopic analysis of the microvascular status in mixed versus undifferentiated connective tissue disease. Microvasc Res. 2022;142:104367. doi:10.1016/j.mvr.2022.104367
  • De Holanda Mafaldo Diofenes A, Bonfà E, Fuller R, Correia Caleiro MT. Capillaroscopy is a dynamic process in mixed connective tissue disease. Lupus. 2007;16(4):254–258. doi:10.1177/0961203307076517
  • Todoroki Y, Kubo S, Nakano K, et al. Nailfold microvascular abnormalities are associated with a higher prevalence of pulmonary arterial hypertension in patients with MCTD. Rheumatology. 2022;61(12):4875–4884. doi:10.1093/rheumatology/keac165
  • Sambataro D, Sambataro G, Libra A, et al. Nailfold videocapillaroscopy is a useful tool to recognize definite forms of systemic sclerosis and idiopathic inflammatory myositis in interstitial lung disease patients. Diagnostics. 2020;10(5):253. doi:10.3390/diagnostics10050253
  • Manfredi A, Sebastiani M, Cassone G, et al. Nailfold Capillaroscopic changes in dermatomyositis and polymyositis. Clin Rheumatol. 2015;34(2):279–284. doi:10.1007/s10067-014-2795-8
  • Kawano-Dourado L, Baldi BG, Kay FU, et al. Pulmonary involvement in long-term mixed connective tissue disease: functional trends and image findings after 10 years. Clin Exp Rheumatol. 2015;33(2):234–240.
  • Wijsenbeek M, Cottin V. Spectrum of fibrotic lung disease. N Eng J Med. 2020;383(10):958. doi:10.1056/NEJMra2005230
  • Flaherty KR, Wells AU, Cottin V, et al. Nintedanib in progressive fibrosing interstitial lung diseases. N Eng J Med. 2019;381(19):1718. doi:10.1056/NEJMoa1908681
  • Sambataro G, Vancheri A, Torrisi SE, et al. The morphological domain does not affect the rate of progression to defined autoimmune diseases in patients with interstitial pneumonia with autoimmune features. Chest. 2020;157(1):238–242. doi:10.1016/j.chest.2019.08.2175
  • Sambataro G, Ferrara CA, Torrisi SE, et al. “Usual” Interstitial pneumonia with autoimmune features: a prospective study on a cohort of idiopathic pulmonary fibrosis patients. Clin Exp Rheumatol. 2022;40(7):1324–1329. doi:10.55563/clinexprheumatol/lqi6z7
  • Sambataro G, Sambataro D, Spicuzza L, et al. Progression and prognosis of interstitial pneumonia with autoimmune features: a longitudinal, prospective, multi-centre study. Clin Exp Rheumatol. 2022. doi:10.55563/clinexprheumatol/lycdca
  • Palmucci S, Galioto F, Fazio G, et al. Clinical and radiological features of lung disorders related to connective-tissue diseases: a pictorial assay. Insights Imaging. 2022;13:108. doi:10.1186/s13244-022-01243-2
  • Topyla-çPutowska W, Tomaszewski M, Wysokinski A, Tomaszewski A. Echocardiography in pulmonary arterial hypertension: comprehensive evaluation and technical considerations. J Clin Med. 2021;10(15):3229. doi:10.3390/jcm10153229
  • Bournia VK, Tsangaris I, Rallidis L, et al. Cardiac catheterization versus echocardiography for monitoring pulmonary pressure: a prospective study in patients with connective tissue disease-associated pulmonary artery hypertension. Diagnostics. 2020;10(1):49. doi:10.3390/diagnostics10010049