DISEASE: Mixed connective tissue disease

Entry

H01710                      Disease

Name

Mixed connective tissue disease

Description

Mixed connective tissue disease (MCTD) is a rare autoimmune disease characterized by a combination of clinical features of systemic lupus erythematosus, systemic sclerosis, and polymyositis with elevated antibodies to U1 small nuclear ribonucleoprotein (U1-RNP). The most common clinical manifestations of this disease are Raynaud's phenomenon, arthralgias, swollen joints, esophageal dysfunction, muscle weakness and fingers sausage-like appearance. The disease can be serious with development of pulmonary, kidney, cardiovascular, gastrointestinal, and central nervous system manifestations. The worst prognosis and high mortality are associated with the presence of pulmonary disease. Therapy should be individualised for each patient to address the specific organs involved and the severity of underlying disease activity. Inflammatory manifestations usually respond to steroid treatment, whereas clinical sclerodermatous manifestations such as sclerodactyly, and pulmonary interstitial disease more often require cytotoxic immunosuppressive treatment.

Category

Immune system disease

Brite

Human diseases [BR:br08402]
Immune system diseases
  Allergies and autoimmune diseases
   H01710  Mixed connective tissue disease
Human diseases in ICD-11 classification [BR:br08403]
04 Diseases of the immune system
  Nonorgan specific systemic autoimmune disorders
   4A43  Overlap or undifferentiated nonorgan specific systemic autoimmune disease
    H01710  Mixed connective tissue disease

Comment

See also H00080 Systemic lupus erythematosus, H01492 Systemic sclerosis, and H01604 Polymyositis and dermatomyositis.

Other DBs

ICD-11:

4A43.3

ICD-10:

M35.1

MeSH:

D008947

Reference

PMID:27421219

Authors

Gunnarsson R, Hetlevik SO, Lilleby V, Molberg O

Title

Mixed connective tissue disease.

Journal

Best Pract Res Clin Rheumatol 30:95-111 (2016)
DOI:10.1016/j.berh.2016.03.002

Reference

PMID:27238624

Authors

Sato S, Yashiro M, Matsuoka N, Uematsu M, Asano T, Kobayashi H, Watanabe H, Ohira H

Title

Successful Immunosuppressive Treatment of Mixed Connective Tissue Disease Complicated by Microscopic Polyangiitis.

Journal

Tohoku J Exp Med 239:111-6 (2016)
DOI:10.1620/tjem.239.111

Reference

PMID:22424193

Authors

Ortega-Hernandez OD, Shoenfeld Y

Title

Mixed connective tissue disease: an overview of clinical manifestations, diagnosis and treatment.

Journal

Best Pract Res Clin Rheumatol 26:61-72 (2012)
DOI:10.1016/j.berh.2012.01.009

Reference

PMID:25558707

Authors

Zold E, Bodolay E, Dezso B, Soos G, Nakken B, Szodoray P

Title

Mixed connective tissue disease associated with autoimmune hepatitis and pulmonary fibrosis.

Journal

Isr Med Assoc J 16:733-4 (2014)

» Japanese version

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Drug (3)   
   KEGG DRUG (3)   
Literature (4)   
   PubMed (4)   
All databases (7)   

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