Mixed Connective-Tissue Disease Workup

  • Author: Robert W Hoffman, DO, FACP, FACR; Chief Editor: Herbert S Diamond, MD   more...
 
Updated: Dec 1, 2011
 

Laboratory Studies

  • CBC count
  • Urinalysis
  • Routine blood chemistry
  • Muscle enzymes if myositis is suspected clinically
  • Antinuclear antibodies
    • High-titer speckled pattern fluorescent antinuclear antibody (FANA) is typical of mixed connective-tissue disease (MCTD).
    • FANA is not specific to MCTD.
  • High titers of anti–U1-RNP antibodies
    • Anti-RNP antibodies are required for diagnosis of MCTD.
    • The presence of anti–U1-70 kd is characteristic of MCTD.
  • Other immune studies
    • Antiphospholipid antibodies (including anticardiolipin antibodies and lupus anticoagulant) may be associated with pulmonary hypertension. In MCTD, however, the presence of these antibodies has not been associated with clotting events.
    • Rheumatoid factor is frequently detected.
    • Other lupus-specific antibodies (eg, anti–double-stranded DNA antibodies) are absent.
    • Scleroderma-specific antibodies, including anticentromere, anti–Scl-70 (topoisomerase), and anti–PM-1 (Pm-Scl), are absent.
    • C3 and C4 complement levels are more likely to be depleted in lupus than in MCTD
  • Amylase and lipase - To assess for pancreatitis if clinically indicated
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Imaging Studies

  • Chest radiography - To assess for infiltrates, effusion, or cardiomegaly
  • Echocardiography - Used to evaluate for effusion, chest pain, pulmonary hypertension, or valvular disease (An exercise echocardiography may increase the sensitivity to identify pulmonary hypertension.)
  • Ultrasonography/CT scanning - Used to evaluate abdominal pain (indicated for evidence of serositis, pancreatitis, or visceral perforation related to vasculitis)
  • MRI - Used to assess neuropsychiatric signs or symptoms
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Other Tests

  • Pulmonary function testing - To screen for declining diffusing capacity of lung for carbon monoxide (DLCO), possibly indicating pulmonary hypertension
  • ECG and/or cardiac enzymes - To assess for myocardial ischemia and myocarditis
  • Cerebral spinal fluid (CFS) analysis - To monitor for infection, stroke, or neuropsychiatric manifestations
  • Six-minute walk - To assess for cardiopulmonary insufficiency, possibly indicating pulmonary hypertension
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Procedures

  • Right-sided heart catheterization is the criterion standard for diagnosis of pulmonary hypertension.
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Staging

  • MCTD can enter sustained remission later in the clinical course. Anti-RNP autoantibodies typically become undetectable in patients in remission.
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Contributor Information and Disclosures
Author

Robert W Hoffman, DO, FACP, FACR  Chief, Division of Rheumatology and Immunology, Professor, Departments of Medicine and Microbiology & Immunology, University of Miami

Robert W Hoffman, DO, FACP, FACR is a member of the following medical societies: American Association for the Advancement of Science, American Association of Immunologists, American College of Physicians, American College of Rheumatology, and Clinical Immunology Society

Disclosure: Nothing to disclose.

Coauthor(s)

Eric L Greidinger, MD  Associate Professor, Department of Medicine, Division of Rheumatology and Immunology, University of Miami Miller School of Medicine, Miami Veterans Affairs Medical Center

Eric L Greidinger, MD is a member of the following medical societies: American College of Physicians and American College of Rheumatology

Disclosure: Johnson & Johnson Grant/research funds Innate Immunity Research; Eli Lilly Intellectual property rights Lupus research

Specialty Editor Board

Bryan L Martin, DO  Associate Dean for Graduate Medical Education, Designated Institutional Official, Associate Medical Director, Director, Allergy Immunology Program, Professor of Medicine and Pediatrics, Ohio State University College of Medicine

Bryan L Martin, DO is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American College of Allergy, Asthma and Immunology, American College of Osteopathic Internists, American College of Physicians, American Medical Association, and American Osteopathic Association

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD  Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape Salary Employment

Elliot Goldberg, MD  Dean of the Western Pennsylvania Clinical Campus, Professor, Department of Medicine, Temple University School of Medicine

Elliot Goldberg, MD is a member of the following medical societies: Alpha Omega Alpha, American College of Physicians, and American College of Rheumatology

Disclosure: Nothing to disclose.

Alex J Mechaber, MD, FACP  Senior Associate Dean for Undergraduate Medical Education, Associate Professor of Medicine, University of Miami Miller School of Medicine

Alex J Mechaber, MD, FACP is a member of the following medical societies: Alpha Omega Alpha, American College of Physicians-American Society of Internal Medicine, and Society of General Internal Medicine

Disclosure: Nothing to disclose.

Chief Editor

Herbert S Diamond, MD  Adjunct Professor of Medicine, Division of Rheumatology, University of Pittsburgh School of Medicine; Chairman Emeritus, Department of Internal Medicine, Western Pennsylvania Hospital

Herbert S Diamond, MD is a member of the following medical societies: Alpha Omega Alpha, American College of Physicians, American College of Rheumatology, American Medical Association, and Phi Beta Kappa

Disclosure: Merck Ownership interest Other; Smith Kline Ownership interest Other; Zimmer Ownership interest Other

References

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  2. Zandman-Goddard G, Solomon M, Rosman Z, Peeva E, Shoenfeld Y. Environment and lupus related diseases. Lupus. Nov 7 2011;[Medline].

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  4. Cappelli S, Bellando Randone S, Martinovic D, Tamas MM, Pasalic K, Allanore Y, et al. "To Be or Not To Be," Ten Years After: Evidence for Mixed Connective Tissue Disease as a Distinct Entity. Semin Arthritis Rheum. Sep 27 2011;[Medline].

  5. 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. Arthritis Rheum. May 1990;33(5):666-73. [Medline].

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  8. Alarcon-Segovia D, Villareal M. Classification and diagnostic criteria for mixed connective tissue disease. In: Kasukawa R, Sharp GC, eds. Mixed Connective Tissue Disease and Anti-Nuclear Antibodies. Amsterdam: Excerpta Medica; 1987:33-40.

  9. Greidinger EL, Zang Y, Jaimes K, et al. A murine model of mixed connective tissue disease induced with U1 small nuclear RNP autoantigen. Arthritis Rheum. Feb 2006;54(2):661-9. [Medline].

  10. Hoffman RW. Undifferentiated and mixed connective tissue disease. In: Wallace D, Hahn B, eds. Dubois Systemic Lupus Erythematosus. Lippincott, P: In press.

  11. Hoffman RW. Mixed connective tissue disease, overlap syndromes and Sjogren's syndrome. In: Lahita RG, ed. Systemic Lupus Erythematosus. 4th ed. San Diego, Calif: Academic Press; 2004.

  12. Hoffman RW. T cells in the pathogenesis of systemic lupus erythematosus. Clin Immunol. Oct 2004;113(1):4-13. [Medline].

  13. Hoffman RW, Cassidy JT, Takeda Y, et al. U1-70-kd autoantibody-positive mixed connective tissue disease in children. A longitudinal clinical and serologic analysis. Arthritis Rheum. Nov 1993;36(11):1599-602. [Medline].

  14. Hoffman RW, Greidinger EL. Mixed connective tissue disease. Curr Opin Rheumatol. Sep 2000;12(5):386-90. [Medline].

  15. Maldonado ME, Perez M, Pignac-Kobinger J, et al. Clinical and immunologic manifestations of mixed connective tissue disease in a Miami population compared to a Midwestern US Caucasian population. J Rheumatol. Mar 2008;35(3):429-37. [Medline].

  16. Perkins K, Hoffman RW, Bezruczko N. A Rasch analysis for classification of systemic lupus erythematosus and mixed connective tissue disease. J Appl Meas. 2008;9(2):136-50. [Medline].

  17. Schwemmle C, Kreipe HH, Witte T, Ptok M. Bamboo nodes associated with mixed connective tissue disease as a cause of hoarseness. Rheumatol Int. Nov 16 2011;[Medline].

  18. Smolen JS, Steiner G. Mixed connective tissue disease: to be or not to be?. Arthritis Rheum. May 1998;41(5):768-77. [Medline].

 
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