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Mixed Connective-Tissue Disease Workup

  • Author: Eric L Greidinger, MD; Chief Editor: Herbert S Diamond, MD  more...
 
Updated: Jul 08, 2016
 

Laboratory Studies

Laboratory studies used in the workup for mixed connective-tissue disorder (MCTD) are as follows:

  • Complete blood cell count (CBC)
  • Urinalysis
  • Routine blood chemistry
  • Muscle enzymes if myositis is suspected clinically
  • Antinuclear antibodies
  • Anti–U1-ribonucleoprotein (RNP) antibodies
  • Amylase and lipase - To assess for pancreatitis if clinically indicated

Antibody study results

High-titer speckled pattern fluorescent antinuclear antibody (FANA) is typical of MCTD. However, the presence of FANA is not specific to MCTD.

Anti-RNP antibodies are required for diagnosis of MCTD. Titers are typically high. The presence of anti–U1-70 kd is characteristic of MCTD.

MCTD can enter sustained remission later in the clinical course. Anti-RNP autoantibodies typically become undetectable in patients in remission.

Other immune studies

Further results are as follows:

  • Antiphospholipid antibodies (including anticardiolipin antibodies and lupus anticoagulant) may be associated with pulmonary hypertension
  • 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
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Imaging Studies

Imaging studies used in the workup of patients with MCTD include the following:

  • Chest radiography - To assess for infiltrates, effusion, or cardiomegaly (see the image below)
  • Echocardiography - In patients with effusion or chest pain, used to evaluate for pulmonary hypertension or valvular disease (exercise echocardiography may have increased sensitivity for identifying 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
Chest radiograph in a patient with pulmonary hyperChest radiograph in a patient with pulmonary hypertension reveals enlarged pulmonary arteries.
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Other Tests

See the list below:

  • 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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Contributor Information and Disclosures
Author

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, American College of Rheumatology

Disclosure: Received grant/research funds from Johnson & Johnson for innate immunity research; Received intellectual property rights from Eli Lilly for lupus research.

Specialty Editor Board

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

Disclosure: Received salary from Medscape for employment. for: Medscape.

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, American College of Rheumatology

Disclosure: Nothing to disclose.

Chief Editor

Herbert S Diamond, MD Visiting Professor of Medicine, Division of Rheumatology, State University of New York Downstate Medical Center; 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, Phi Beta Kappa

Disclosure: Nothing to disclose.

Additional Contributors

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, American Osteopathic Association

Disclosure: Nothing to disclose.

Acknowledgements

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

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.

References
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Raynaud phenomenon is a common feature of mixed connective tissue disease.
Chest radiograph in a patient with pulmonary hypertension reveals enlarged pulmonary arteries.
 
 
 
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