A case of autoimmune hypothyroidism presented as overlap syndrome of mixed connective tissue disorder
Keywords:Mixed connective tissue disorder, Anti RNP antibody, Raynaud’s phenomenon
Mixed connective tissue disease is a distinct complex overlap disorder characterised by combination of clinical features of systemic lupus erythematosus, systemic sclerosis, polymyositis and rheumatoid arthritis. Higher levels of anti-U1-ribonucleoprotein (anti-U1RNP) antibody has been found in these patients. 39 year old female, known case of hypothyroidism, came with complaints of multiple joint pains with swelling associated with morning stiffness of fingers since last 2 years. She also had dryness of skin, loss of appetite, constipation, difficulty in swallowing and dyspnea on exertion since last 2 months. Considering the joint pains an antinuclear antibody (ANA) was sent. She turned out to be RNP, Sm, Ro 52, Mi-2 positive. Anti-CCP, rheumatoid factors (RA), Raynaud’s phenomenon all were positive. Rheumatologist opinion was taken and she was diagnosed as mixed connective tissue disorder with hypothyroidism. Patient was successfully treated with immunosuppressants and supportive measures and responded well to tablet methotrexate, prednisone, nifedipine and hydroxychloroquine. Our patient had one major and 3 minor criteria: anti RNP antibody positive, Raynaud’s phenomenon, swollen fingers and synovitis. Thus, diagnosed as mixed connective tissue disease.
John KJ, Sadiq M, George T, Gunasekaran K, Francis N, Rajadurai E, et al. Clinical and Immunological Profile of Mixed Connective Tissue Disease and a Comparison of Four Diagnostic Criteria. Hindawi Int J Rheumatol. 2020;9692030.
Sharp GC, Irvin WS, Tan EM. 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;52:148-59.
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):148-59.
Bennett RM, O'Connell DJ. Mixed connective tissue disease: a clinicopathologic study of 20 cases. Sem Arthr Rheumat. 1980;10(1):25-51.
Kattah NH, Kattah MG, Utz PJ. The U1-snRNP complex: Structural properties relating to autoimmune pathogenesis in rheumatic diseases. Immunol Rev. 2010;233:126-45.
Bull TM, Fagan KA, Badesch DB. Pulmonary vascular manifestations of mixed connective tissue disease. Rheumat Dis Clin North Am. 2005;31(3):451-64.
Hajas A, Szodoray P, Nakken B. Clinical course, prognosis, and causes of death in mixed connective tissue disease. J Rheumatol. 2013;40(7):1134-42.
Kitridou RC, Akmal M, Turkel SB, Ehresmann GR, Quismorio FP, Massry SG. Renal involvement in mixed connective tissue disease: a longitudinal clinicopathologic study. Sem Arth Rheum. 1986;16(2):135-45.
Sen S, Sinhamahapatra P, Choudhury S, Gangopadhyay A, Bala S, Sircar G, 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.
Swartz RA. Hematologic manifestations of mixed connective tissue disease. Available at: http://emedicine.medscape.com. Accessed on: 26 August 2020.
Grader-Beck T, Wigley FM. Raynaud's phenomenon in mixed connective tissue disease. Rheum Dis Clin North Am. 2005;31:465-81.
Burdt MA, Hoffman RW, Deutscher SL, Wang GS, Johnson JC, Sharp GC. Long-term outcome in mixed connective tissue disease: Longitudinal clinical and serologic findings. Arthritis Rheum. 1999;42:899-909.
Pope JE. Other manifestations of mixed connective tissue disease. Rheum Dis Clin North Am. 2005;31:519-33.
Ciang NC, Pereira N, Isenberg DA. Mixed connective tissue disease-enigma variations? Rheumatology (Oxford). 2017;56(3):326-33.
Aringer M, Smolen JS. Mixed connective tissue disease: what is behind the curtain? Best Pract Res Clin Rheumatol. 2007;21:103749.
Kasukawa R, Tojo T, Miyawaki S. Preliminary diagnostic criteria for classification of mixed connective tissue disease. Mixed connective tissue disease and antinuclear antibodies. Amsterdam: Elsevier. 1987;4147.
Gendi NS, Welsh KI, Van Venrooij WJ, Vancheeswaran R, Gilroy J, Black CM. HLA type as a predictor of mixed connective tissue disease differentiation. Ten-year clinical and immunogenetic followup of 46 patients. Arthritis Rheum. 1995;38:259-66.
Sharp GC. Diagnostic criteria for classification of MCTD. Mixed connective tissue disease and antinuclear antibodies. Amsterdam: Elsevier. 1987;2332.
Alarco´ n-Segovia D, Villareal M. Classification and diagnostic criteria for mixed connective tissue disease. Mixed connective tissue disease and antinuclear antibodies. Amsterdam: Elsevier. 1987;3340. 20. Kahn MF, Appeboom T. Syndrome de Sharp. Les Maladies Systemiques. Paris: Flammarion. 1991;3:54556.
Narsimulu G, Vara PIR. Mixed connective tissue disease and overlap syndromes. API textbook of medicine. 9th edition. 2003;1877.
Amoura Z, Arnaud L. Mixed connective tissue disease. Orphanet. 2009. Available at: http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=809. Accessed on: 27 July 2020.
Lundberg IE. The prognosis of mixed connective tissue disease. Rheum Dis Clin N Am. 2005;31:53547.