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Overlap Syndrome/Mixed Connective Tissue Disease
Kirkland W. Davis, MD, FACR
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KEY FACTS

  • Terminology

    • Imaging

      • Clinical Issues

        TERMINOLOGY

        • Synonyms

          • Overlap myositis, overlap syndrome with myositis
        • Definitions

          • Overlap syndrome: autoimmune inflammatory myopathy + clinical findings of ≥ 1 other autoimmune diseases
            • e.g., systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), Sjögren syndrome, systemic sclerosis (SSc)
          • Antisynthetase syndrome (ASS): most common overlap syndrome
            • Antiaminoacyl t-RNA synthetase (aaRS) antibodies present (most common: anti-Jo-1)
            • Combination of clinical findings may include myositis, arthritis, Raynaud phenomenon, mechanic's hands, fever, interstitial lung disease (ILD)
          • Mixed connective tissue disorder (MCTD)
            • Presence of anti-U1RNP antibodies
            • Overlapping clinical features of SSc, SLE, polymyositis (PM)/dermatomyositis (DM), &/or RA
            • Often "evolves" into 1 characteristic/classifiable autoimmune disorder

        IMAGING

        • General Features

          • MR Findings

            PATHOLOGY

            • General Features

              CLINICAL ISSUES

              • Presentation

                • Natural History & Prognosis

                  • Treatment

                    • Evolving Understanding

                      Selected References

                      1. Ornowska S et al: Microvascular damage - a marker of specific organ involvement in mixed connective tissue disease? Reumatologia. 59(2):115-20, 2021
                      2. Alves MR et al: "Mixed connective tissue disease": a condition in search of an identity. Clin Exp Med. 20(2):159-66, 2020
                      3. Gorkem SB et al: Imaging findings of mixed connective tissue disease in children and adolescents: a case series. Jpn J Radiol. 37(5):371-9, 2019
                      4. Clark KEN et al: A review of inflammatory idiopathic myopathy focusing on polymyositis. Eur J Neurol. 25(1):13-23, 2018
                      5. Jacques T et al: Musculoskeletal manifestations of non-RA connective tissue diseases: scleroderma, systemic lupus erythematosus, Still's disease, dermatomyositis/polymyositis, Sjögren's syndrome, and mixed connective tissue disease. Semin Musculoskelet Radiol. 22(2):166-79, 2018
                      6. Schmidt J: Current classification and management of inflammatory myopathies. J Neuromuscul Dis. 5(2):109-29, 2018
                      7. Selva-O'Callaghan A et al: Classification and management of adult inflammatory myopathies. Lancet Neurol. 17(9):816-28, 2018
                      8. Andersson H et al: Comparative analyses of muscle MRI and muscular function in anti-synthetase syndrome patients and matched controls: a cross-sectional study. Arthritis Res Ther. 19(1):17, 2017
                      9. Breda L et al: Laboratory tests in the diagnosis and follow-up of pediatric rheumatic diseases: an update. Semin Arthritis Rheum. 40(1):53-72, 2010
                      10. Antoniou KM et al: Pivotal clinical dilemmas in collagen vascular diseases associated with interstitial lung involvement. Eur Respir J. 33(4):882-96, 2009
                      11. Schulze M et al: MRI findings in inflammatory muscle diseases and their noninflammatory mimics. AJR Am J Roentgenol. 192(6):1708-16, 2009
                      12. Swart JF et al: Diagnostic workup for mixed connective tissue disease in childhood. Isr Med Assoc J. 10(8-9):650-2, 2008
                      Related Anatomy
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                      Related Differential Diagnoses
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                      References
                      Tables

                      Tables

                      KEY FACTS

                      • Terminology

                        • Imaging

                          • Clinical Issues

                            TERMINOLOGY

                            • Synonyms

                              • Overlap myositis, overlap syndrome with myositis
                            • Definitions

                              • Overlap syndrome: autoimmune inflammatory myopathy + clinical findings of ≥ 1 other autoimmune diseases
                                • e.g., systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), Sjögren syndrome, systemic sclerosis (SSc)
                              • Antisynthetase syndrome (ASS): most common overlap syndrome
                                • Antiaminoacyl t-RNA synthetase (aaRS) antibodies present (most common: anti-Jo-1)
                                • Combination of clinical findings may include myositis, arthritis, Raynaud phenomenon, mechanic's hands, fever, interstitial lung disease (ILD)
                              • Mixed connective tissue disorder (MCTD)
                                • Presence of anti-U1RNP antibodies
                                • Overlapping clinical features of SSc, SLE, polymyositis (PM)/dermatomyositis (DM), &/or RA
                                • Often "evolves" into 1 characteristic/classifiable autoimmune disorder

                            IMAGING

                            • General Features

                              • MR Findings

                                PATHOLOGY

                                • General Features

                                  CLINICAL ISSUES

                                  • Presentation

                                    • Natural History & Prognosis

                                      • Treatment

                                        • Evolving Understanding

                                          Selected References

                                          1. Ornowska S et al: Microvascular damage - a marker of specific organ involvement in mixed connective tissue disease? Reumatologia. 59(2):115-20, 2021
                                          2. Alves MR et al: "Mixed connective tissue disease": a condition in search of an identity. Clin Exp Med. 20(2):159-66, 2020
                                          3. Gorkem SB et al: Imaging findings of mixed connective tissue disease in children and adolescents: a case series. Jpn J Radiol. 37(5):371-9, 2019
                                          4. Clark KEN et al: A review of inflammatory idiopathic myopathy focusing on polymyositis. Eur J Neurol. 25(1):13-23, 2018
                                          5. Jacques T et al: Musculoskeletal manifestations of non-RA connective tissue diseases: scleroderma, systemic lupus erythematosus, Still's disease, dermatomyositis/polymyositis, Sjögren's syndrome, and mixed connective tissue disease. Semin Musculoskelet Radiol. 22(2):166-79, 2018
                                          6. Schmidt J: Current classification and management of inflammatory myopathies. J Neuromuscul Dis. 5(2):109-29, 2018
                                          7. Selva-O'Callaghan A et al: Classification and management of adult inflammatory myopathies. Lancet Neurol. 17(9):816-28, 2018
                                          8. Andersson H et al: Comparative analyses of muscle MRI and muscular function in anti-synthetase syndrome patients and matched controls: a cross-sectional study. Arthritis Res Ther. 19(1):17, 2017
                                          9. Breda L et al: Laboratory tests in the diagnosis and follow-up of pediatric rheumatic diseases: an update. Semin Arthritis Rheum. 40(1):53-72, 2010
                                          10. Antoniou KM et al: Pivotal clinical dilemmas in collagen vascular diseases associated with interstitial lung involvement. Eur Respir J. 33(4):882-96, 2009
                                          11. Schulze M et al: MRI findings in inflammatory muscle diseases and their noninflammatory mimics. AJR Am J Roentgenol. 192(6):1708-16, 2009
                                          12. Swart JF et al: Diagnostic workup for mixed connective tissue disease in childhood. Isr Med Assoc J. 10(8-9):650-2, 2008