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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
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Mixed connective tissue disease-enigma variations?

Natalia C O Ciang1, Nídia Pereira2, David A Isenberg3

  • 1Division of Rheumatology, Department of Medicine, Queen Elizabeth Hospital, Hong Kong.

Rheumatology (Oxford, England)
|July 21, 2016
PubMed
Summary
This summary is machine-generated.

The existence of Mixed Connective Tissue Disease (MCTD) as a distinct autoimmune rheumatic disease remains controversial. Recent literature suggests using the term undifferentiated autoimmune rheumatic disease instead.

Keywords:
anti-U1snRNPantigen modificationcapillaroscopyclinical featuresepitope spreadingimmunologymixed connective tissue diseasepulmonary hypertension

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Area of Science:

  • Rheumatology
  • Immunology
  • Internal Medicine

Background:

  • Mixed Connective Tissue Disease (MCTD) was described in 1972 with overlapping features of systemic sclerosis, systemic lupus erythematosus, and polymyositis/dermatomyositis.
  • Key characteristics included high anti-U1snRNP antibodies and a good prognosis with low steroid requirements.
  • The distinctness of MCTD as a separate disease entity has been debated since its initial description.

Purpose of the Study:

  • To review recent literature (last decade) on MCTD.
  • To determine if new data resolves the controversy surrounding MCTD's status as a distinct disease.
  • To evaluate the continued appropriateness of the MCTD classification.

Main Methods:

  • A comprehensive literature review was conducted.
  • Focus was placed on articles published in the last ten years reporting new data on MCTD.
  • The review aimed to synthesize current evidence regarding MCTD's classification.

Main Results:

  • The review identified ongoing debate and lack of consensus regarding MCTD as a distinct entity.
  • Recent data did not definitively resolve the controversy surrounding MCTD's classification.
  • Evidence suggests that the features originally attributed to MCTD may represent a spectrum of other autoimmune rheumatic diseases.

Conclusions:

  • The term Mixed Connective Tissue Disease (MCTD) may not be appropriate for retaining as a distinct disease classification.
  • The findings support a shift towards using the term undifferentiated autoimmune rheumatic disease.
  • This proposed terminology better reflects the overlapping and variable nature of these autoimmune conditions.