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| __NOTOC__ | | __NOTOC__ |
| {{Mixed connective tissue disease}} | | {{Mixed connective tissue disease}} |
| {{SI}}
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| {{CMG}}; {{AE}} {{CZ}}, {{JH}}, {{MIR}}
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| {{SK}} MCTD; mixed connective tissue disorder; Sharp's syndrome | | {{CMG}}; {{AE}} {{SHH}} |
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| ==Overview== | | ==[[Mixed connective tissue disease overview|Overview]]== |
| '''Mixed connective tissue disease''' ('''MCTD''') or ''Sharp's syndrome'' is a human [[autoimmune disease]] in which the [[immune system]] attacks the body. MCTD combines features of [[polymyositis]], [[systemic lupus erythematosus]], and [[systemic scleroderma]] and is thus considered an [[overlap syndrome]]. MCTD commonly causes [[arthritis|joint pain/swelling]], [[Raynaud phenomenon]], [[myositis|muscle inflammation]], and [[sclerodactyly|scarring of the skin of the hand]]. It does not typically cause [[kidney]] disease or [[seizure]]s. Distinguishing laboratory characteristics are a positive, speckled [[anti-nuclear antibody]] and an [[anti-U1-RNP antibody]].<ref>Venables PJ. ''Mixed connective tissue disease.'' Lupus. 2006;15(3):132-7. PMID 1663436</ref>
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| ==Pathophysiology==
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| There are no specific histologic findings that aid in the diagnosis of [[Mixed Connective Tissue Disorder]] as a separate autoimmune disease. For example, [[nephritis]] in [[MCTD]] is usually indistinguishable from [[lupus]] nephritis.
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| <div align="left">
| | ==[[Mixed connective tissue disease historical perspective|Historical Perspective]]== |
| <gallery heights="225" widths="225">
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| image:Fibrous Pericarditis in MCTD.jpg|Fibrous Pericarditis in MCTD
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| image:Cellular aggregates in perivascular space and adjacent myocardium.jpg|Cellular aggregates in perivascular space and adjacent myocardium
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| image:Cross Section of Intramural Coronary Artery.jpg|Cross Section of Intramural Coronary Artery
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| image:Small pulmonary artery in patient with MCTD and pulmonary hypertension.jpg|Small pulmonary artery in patient with MCTD and pulmnonary hypertension
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| </gallery>
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| </div>
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| ==Historical Perspective== | | ==[[Mixed connective tissue disease classification scheme|Classification]]== |
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| | ==[[Mixed connective tissue disease pathophysiology|Pathophysiology]]== |
| ==Classification== | |
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| | ==[[Mixed connective tissue disease causes|Causes]]== |
| ==Pathophysiology== | |
| *Associated Conditions:
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| **[[Systemic lupus erythematosus]]–like findings
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| ***[[Polyarthritis]]
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| ***[[Lymphadenopathy]]
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| ***Facial [[erythema]]
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| ***[[Pericarditis]] or [[pleuritis]]
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| ***[[Leukopenia]] (<4,000/mm3) or thrombocytopenia (<100,000/mm3)
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| **[[Scleroderma|Progressive Systemic Sclerosis]] –like findings
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| ***[[Sclerodactyly]]
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| ***[[Pulmonary fibrosis]], restrictive changes of the lung (forced vital capacity <80% of predicted), or reduced carbon monoxide diffusing capacity (<70% of predicted)
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| **[[Polymyositis]]-like findings
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| ==Causes== | | ==[[Differentiating Mixed connective tissue disease from other diseases|Differentiating Any Disease from other Diseases]]== |
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| | ==[[Mixed connective tissue disease epidemiology and demographics|Epidemiology and Demographics]]== |
| ==Differentiating Mixed Connective Tissue Disease from other Diseases== | |
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| | ==[[Mixed connective tissue disease risk factors|Risk Factors]]== |
| ==Epidemiology and Demographics== | |
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| | ==[[Mixed connective tissue disease screening|Screening]]== |
| ===Age=== | |
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| | ==[[Mixed connective tissue disease natural history, complications and prognosis|Natural History, Complications and Prognosis]]== |
| ===Gender=== | |
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| ===Race===
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| ==Risk Factors==
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| ==Natural History, Complications and Prognosis==
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| Cardiovascular abnormalities associated with mixed connective tissue disease are rare. Presence of any of the complications listed below indicates unfavorable prognosis;
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| *Acute [[pericarditis]] and/or [[pericardial effusion]],
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| *[[Mitral valve prolapse]],
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| *Intimal hyperplasia of coronary arteries,
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| *Perivascular and myocardial leukocytic infiltrates,
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| *[[Pulmonary hypertension]].
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| *Coronary Artery Disease (although it is rarer, ACS may occur secondary to vascular changes and underlying CAD. The youngest patient with MCTD and ACS in literature was 18 years old)<ref>Jang J J, Olin J W, Fuster V. A teenager with mixed connective tissue disease presenting with an acute coronary syndrome. Vascular Medicine; 2004, Vol. 9 Issue 1, 31-34</ref>
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| <div align="left">
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| <gallery heights="225" widths="225">
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| image:Teenager before PCI.jpg|A teenager with MCTD presented as ACS before PCI
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| image:Teenager post PCI.jpg|A teenager with MCTD presented as ACS post PCI
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| </gallery>
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| </div>
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| ==Diagnosis== | | ==Diagnosis== |
| ===Diagnostic Criteria===
| | [[Mixed connective tissue disease history and symptoms|History and Symptoms]] | [[Mixed connective tissue disease physical examination|Physical Examination]] | [[Mixed connective tissue disease laboratory tests|Laboratory Findings]] | [[Mixed connective tissue disease electrocardiogram|Electrocardiogram]] | [[Mixed connective tissue disease chest x ray|Chest X Ray]] | [[Mixed connective tissue disease CT|CT]] | [[Mixed connective tissue disease MRI|MRI]] | [[Mixed connective tissue disease ultrasound or echocardiography|ultrasound or echocardiography]] | [[Mixed connective tissue disease other imaging findings|Other Imaging Findings]] | [[Mixed connective tissue disease other diagnostic studies|Other Diagnostic Studies]] |
| ===Symptoms===
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| *[[Raynaud’s phenomenon]]
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| *Swollen fingers or hands
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| *Muscle weakness
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| ===Physical examination===
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| ====Gallery====
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| =====Trunk=====
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| <gallery>
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| Image: Mixed_connective_tissue_disease_01.jpg|Mixed connective tissue disease. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=12 With permission from Dermatology Atlas.]''<ref name="www.atlasdermatologico.com.br">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=294>
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| </gallery>
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| =====Extremities=====
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| <gallery>
| | ==Treatment== |
| | [[Mixed connective tissue disease medical therapy|Medical Therapy]] | [[Mixed connective tissue disease surgery|Surgery]] | [[Mixed connective tissue disease primary prevention|Primary Prevention]] | [[Mixed connective tissue disease secondary prevention|Secondary Prevention]] | [[Mixed connective tissue disease Future or Investigational Therapies|Future or Investigational Therapies]] |
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| Image: Mixed_connective_tissue_disease_02.jpg|Mixed connective tissue disease. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=12 With permission from Dermatology Atlas.]''<ref name="www.atlasdermatologico.com.br">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=294>
| | ==Case Studies== |
| | [[Type page name here case study one|Case #1]] |
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| Image: Mixed_connective_tissue_disease_03.jpg|Mixed connective tissue disease. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=12 With permission from Dermatology Atlas.]''<ref name="www.atlasdermatologico.com.br">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=294>
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| </gallery>
| | [[Category:Medicine]] |
| ===Laboratory Findings===
| | [[Category:Up-To-Date]] |
| *Elevated serum level of muscle enzymes (creatine kinase)
| | [[Category:Rheumatology]] |
| *MCTD is characterized by anti–U1 small nuclear RNP positivity.
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| ===Imaging Findings===
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| **Myogenic pattern on electromyogram
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| ===Other Diagnostic Studies===
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| **Hypomotility or dilatation of esophagus
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| == References ==
| | {{WH}} |
| {{reflist|2}} | | {{WS}} |