What are the diagnostic criteria for pediatric mixed connective-tissue disorder (MCTD)?

Updated: Oct 24, 2018
  • Author: Marisa S Klein-Gitelman, MD, MPH; Chief Editor: Lawrence K Jung, MD  more...
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Answer

The following lists, published by several authors, are the criteria for making a diagnosis of mixed connective tissue disease: [1, 2, 3]

  • Sharp criteria

    • Definite diagnosis requires 4 major criteria with positive anti-U1 RNP greater than 1:4000 and a negative anti-Sm Ab. U1 RNP is the specific RNP protein associated with this syndrome.

    • Probable diagnosis requires either 3 major criteria or 2 major criteria (which must come from the first 3 major criteria listed) and 2 minor criteria plus an anti-U1 RNP greater than 1:1000.

    • Possible diagnosis requires 3 major criteria without serologic evidence of disease or, if anti-U1 RNP is greater than 1:100, 2 major criteria or 1 major and 3 minor criteria.

      • Major criteria include severe myositis, pulmonary involvement (diffusing capacity of lung for carbon monoxide 70% of normal, pulmonary hypertension, proliferating vascular lesions on lung biopsy), Raynaud phenomenon or esophageal hypomotility, swollen hands or sclerodactyly, and highest observed anti-U1 RNP (>1:10,000) with negative anti-Sm Ab.

      • Minor criteria include alopecia, leukopenia (4000 WBC/mL), anemia (< 10 g/dL for females, < 12 g/dL for males), pleuritis, pericarditis, arthritis, trigeminal neuralgia, malar rash, thrombocytopenia (< 100,000/mL), mild myositis, and history of swollen hands.

  • Alarcon-Segovia and Villareal classification

    • Serologic criterion is a positive anti-RNP at a titer of 1:1600 or higher.

    • Clinical criteria (at least 3) are edema of the hands, Raynaud phenomenon (ie, 2 or 3 color changes), acrosclerosis, synovitis, and myositis (laboratory or biopsy evidence).

  • Kasukawa criteria

    • Diagnosis requires the following 3 conditions: (1) positive in either 1 of 2 common symptoms, (2) positive anti-RNP antibody, and (3) positive in 1 or more findings in 2 of 3 disease categories of A, B, and C. The following are disease findings A, B, and C:

      • SLE-like conditions (polyarthritis, lymphadenopathy, facial erythema, pericarditis or pleuritis, leukopenia [< 4000/mL], or thrombocytopenia [< 100,000/mL])

      • Progressive systemic sclerosislike findings (sclerodactyly, pulmonary fibrosis, restrictive lung disease [vital capacity < 80%] or reduced diffusion capacity [< 70%], hypomotility, or dilation of the esophagus)

      • Polymyositislike findings (muscle weakness, increased serum level of myogenic enzymes [creatine kinase], myogenic pattern on electromyogram)

    • Common symptoms include Raynaud phenomenon and swollen fingers or hands.


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