Mixed connective tissue disease pathophysiology: Difference between revisions
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==Genetics== | ==Genetics== | ||
* | *In MCTD, the frequency of HLA-DR4 is increased compared with healthy controls in worldwide population-based studies.<ref name="pmid27436003">{{cite journal |vauthors=Ciang NC, Pereira N, Isenberg DA |title=Mixed connective tissue disease-enigma variations? |journal=Rheumatology (Oxford) |volume=56 |issue=3 |pages=326–333 |date=March 2017 |pmid=27436003 |doi=10.1093/rheumatology/kew265 |url=}}</ref> | ||
*A significant association of U1RNP disease with HLA-DR4 and DR154-61 is noted. | |||
* | |||
==Associated Conditions== | ==Associated Conditions== | ||
Revision as of 20:21, 10 April 2018
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Mixed connective tissue disease Microchapters |
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Differentiating Mixed connective tissue disease from other Diseases |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Shaghayegh Habibi, M.D.[2]
Overview
Pathophysiology
Pathogenesis
- MCTD is a systemic autoimmune disease that characterized by overlapping features between two or more systemic autoimmune diseases and the presence of antibodies against the U1 small nuclear ribonucleoprotein autoantigen (U1snRNP).[1]
- MCTD is characterized by clinical features seen in systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), dermatomyositis (DM), polymyositis, and scleroderma.[2]
- Main pathogenetic mechanisms in mixed connective tissue disease include:[3]
- Vasculopathy which leads to tissue ischemia
- Immunological and inflammatory processes deriving from autoimmunity
- Excessive fibrosis caused by redundant synthesis of collagen and other matrix proteins
- Development of pulmonary hypertension and interstitial lung disease are the most frequent cause of death.[4]
.
- It is understood that [disease name] is the result of / is mediated by / is produced by / is caused by either [hypothesis 1], [hypothesis 2], or [hypothesis 3].
- [Disease or malignancy name] arises from [cell name]s, which are [cell type] cells that are normally involved in [function of cells].
- The progression to [disease name] usually involves the [molecular pathway].
- The pathophysiology of [disease/malignancy] depends on the histological subtype
Genetics
- In MCTD, the frequency of HLA-DR4 is increased compared with healthy controls in worldwide population-based studies.[5]
- A significant association of U1RNP disease with HLA-DR4 and DR154-61 is noted.
Associated Conditions
In MCTD associated conditions include:[6]
- Secondary Sjogren’s syndrome
- Trigeminal neuralgia
Gross Pathology
- On gross pathology, [feature2], and [feature3] are characteristic findings of [disease name].
Microscopic Pathology
- On microscopic histopathological analysis, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].
References
- ↑ Tani C, Carli L, Vagnani S, Talarico R, Baldini C, Mosca M, Bombardieri S (2014). "The diagnosis and classification of mixed connective tissue disease". J. Autoimmun. 48-49: 46–9. doi:10.1016/j.jaut.2014.01.008. PMID 24461387.
- ↑ Thongpooswan S, Tushabe R, Song J, Kim P, Abrudescu A (August 2015). "Mixed Connective Tissue Disease and Papillary Thyroid Cancer: A Case Report". Am J Case Rep. 16: 517–9. doi:10.12659/AJCR.894176. PMC 4530986. PMID 26245523.
- ↑ Latuśkiewicz-Potemska J, Zygmunt A, Biernacka-Zielińska M, Stańczyk J, Smolewska E (October 2013). "Mixed connective tissue disease presenting with progressive scleroderma symptoms in a 10-year-old girl". Postepy Dermatol Alergol. 30 (5): 329–36. doi:10.5114/pdia.2013.38365. PMC 3858664. PMID 24353496.
- ↑ Latuśkiewicz-Potemska J, Zygmunt A, Biernacka-Zielińska M, Stańczyk J, Smolewska E (October 2013). "Mixed connective tissue disease presenting with progressive scleroderma symptoms in a 10-year-old girl". Postepy Dermatol Alergol. 30 (5): 329–36. doi:10.5114/pdia.2013.38365. PMC 3858664. PMID 24353496.
- ↑ Ciang NC, Pereira N, Isenberg DA (March 2017). "Mixed connective tissue disease-enigma variations?". Rheumatology (Oxford). 56 (3): 326–333. doi:10.1093/rheumatology/kew265. PMID 27436003.
- ↑ Latuśkiewicz-Potemska J, Zygmunt A, Biernacka-Zielińska M, Stańczyk J, Smolewska E (October 2013). "Mixed connective tissue disease presenting with progressive scleroderma symptoms in a 10-year-old girl". Postepy Dermatol Alergol. 30 (5): 329–36. doi:10.5114/pdia.2013.38365. PMC 3858664. PMID 24353496.