Behçet's disease pathophysiology: Difference between revisions
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*Genetic anticipation: earlier age of onset of disease in children of pateints with behcet disease.<ref name="pmid9536823">{{cite journal |vauthors=Fresko I, Soy M, Hamuryudan V, Yurdakul S, Yavuz S, Tümer Z, Yazici H |title=Genetic anticipation in Behçet's syndrome |journal=Ann. Rheum. Dis. |volume=57 |issue=1 |pages=45–8 |date=January 1998 |pmid=9536823 |pmc=1752455 |doi= |url=}}</ref> | *Genetic anticipation: earlier age of onset of disease in children of pateints with behcet disease.<ref name="pmid9536823">{{cite journal |vauthors=Fresko I, Soy M, Hamuryudan V, Yurdakul S, Yavuz S, Tümer Z, Yazici H |title=Genetic anticipation in Behçet's syndrome |journal=Ann. Rheum. Dis. |volume=57 |issue=1 |pages=45–8 |date=January 1998 |pmid=9536823 |pmc=1752455 |doi= |url=}}</ref> | ||
*Some studies shows that major histocompatibility complex class I chain related gene A (MICA) A6 allele is related to behcet disease. <ref name="pmid27284416">{{cite journal |vauthors=Wei F, Zhang YU, Li W |title=A meta-analysis of the association between Behçet's disease and MICA-A6 |journal=Biomed Rep |volume=4 |issue=6 |pages=741–745 |date=June 2016 |pmid=27284416 |pmc=4887777 |doi=10.3892/br.2016.644 |url=}}</ref> | *Some studies shows that major histocompatibility complex class I chain related gene A (MICA) A6 allele is related to behcet disease. <ref name="pmid27284416">{{cite journal |vauthors=Wei F, Zhang YU, Li W |title=A meta-analysis of the association between Behçet's disease and MICA-A6 |journal=Biomed Rep |volume=4 |issue=6 |pages=741–745 |date=June 2016 |pmid=27284416 |pmc=4887777 |doi=10.3892/br.2016.644 |url=}}</ref> | ||
*Non-HLA genes als have roles in behcet diesease. They include: | *Non-HLA genes als have roles in behcet diesease. They include: <ref name="pmid11060788">{{cite journal |vauthors=Sakane T, Takeno M |title=Novel approaches to Behçet's disease |journal=Expert Opin Investig Drugs |volume=9 |issue=9 |pages=1993–2005 |date=September 2000 |pmid=11060788 |doi=10.1517/13543784.9.9.1993 |url=}}</ref> | ||
**Intercellular adhesion molecule (ICAM)-1 gene | **Intercellular adhesion molecule (ICAM)-1 gene | ||
**The endothelial nitric oxide synthase gene | **The endothelial nitric oxide synthase gene<ref name="pmid15705632">{{cite journal |vauthors=Karasneh JA, Hajeer AH, Silman A, Worthington J, Ollier WE, Gul A |title=Polymorphisms in the endothelial nitric oxide synthase gene are associated with Behçet's disease |journal=Rheumatology (Oxford) |volume=44 |issue=5 |pages=614–7 |date=May 2005 |pmid=15705632 |doi=10.1093/rheumatology/keh561 |url=}}</ref> | ||
**TNF genes | **TNF genes<ref name="pmid12632436">{{cite journal |vauthors=Ahmad T, Wallace GR, James T, Neville M, Bunce M, Mulcahy-Hawes K, Armuzzi A, Crawshaw J, Fortune F, Walton R, Stanford MR, Welsh KI, Marshall SE, Jewell DP |title=Mapping the HLA association in Behçet's disease: a role for tumor necrosis factor polymorphisms? |journal=Arthritis Rheum. |volume=48 |issue=3 |pages=807–13 |date=March 2003 |pmid=12632436 |doi=10.1002/art.10815 |url=}}</ref> | ||
**The vascular endothelial growth factor (VEGF) gene | **The vascular endothelial growth factor (VEGF) gene<ref name="pmid15338501">{{cite journal |vauthors=Salvarani C, Boiardi L, Casali B, Olivieri I, Cantini F, Salvi F, Malatesta R, La Corte R, Triolo G, Ferrante A, Filippini D, Paolazzi G, Sarzi-Puttini P, Nicoli D, Farnetti E, Chen Q, Pulsatelli L |title=Vascular endothelial growth factor gene polymorphisms in Behçet's disease |journal=J. Rheumatol. |volume=31 |issue=9 |pages=1785–9 |date=September 2004 |pmid=15338501 |doi= |url=}}</ref> | ||
**Manganese superoxide dismutase gene | **Manganese superoxide dismutase gene<ref name="pmid17296902">{{cite journal |vauthors=Nakao K, Isashiki Y, Sonoda S, Uchino E, Shimonagano Y, Sakamoto T |title=Nitric oxide synthase and superoxide dismutase gene polymorphisms in Behçet disease |journal=Arch. Ophthalmol. |volume=125 |issue=2 |pages=246–51 |date=February 2007 |pmid=17296902 |doi=10.1001/archopht.125.2.246 |url=}}</ref> | ||
**Cytochrome P450 gene | **Cytochrome P450 gene<ref name="pmid17269966">{{cite journal |vauthors=Tursen U, Tamer L, Api H, Yildirim H, Baz K, Ikizoglu G, Atik U |title=Cytochrome P450 polymorphisms in patients with Behcet's disease |journal=Int. J. Dermatol. |volume=46 |issue=2 |pages=153–6 |date=February 2007 |pmid=17269966 |doi=10.1111/j.1365-4632.2007.02957.x |url=}}</ref> | ||
**Interleukin (IL)-10 gene | **Interleukin (IL)-10 gene<ref name="pmid26097239">{{cite journal |vauthors=Sousa I, Shahram F, Francisco D, Davatchi F, Abdollahi BS, Ghaderibarmi F, Nadji A, Mojarad Shafiee N, Xavier JM, Oliveira SA |title=Brief report: association of CCR1, KLRC4, IL12A-AS1, STAT4, and ERAP1 With Behçet's disease in Iranians |journal=Arthritis Rheumatol |volume=67 |issue=10 |pages=2742–8 |date=October 2015 |pmid=26097239 |doi=10.1002/art.39240 |url=}}</ref> | ||
**The IL-23 receptor gene | **The IL-23 receptor gene<ref name="pmid25156021">{{cite journal |vauthors=Yalçin B, Atakan N, Dogan S |title=Association of interleukin-23 receptor gene polymorphism with Behçet disease |journal=Clin. Exp. Dermatol. |volume=39 |issue=8 |pages=881–7 |date=December 2014 |pmid=25156021 |doi=10.1111/ced.12400 |url=}}</ref> | ||
** | ** | ||
* Non-HLA genes also play a role in determining susceptibility to disease. Genome-wide screening of affected families with more than one affected member has identified additional, non-HLA regions of potential interest [44]. Examples include associations between Behçet syndrome and: | * Non-HLA genes also play a role in determining susceptibility to disease. Genome-wide screening of affected families with more than one affected member has identified additional, non-HLA regions of potential interest [44]. Examples include associations between Behçet syndrome and: | ||
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==Gross Pathology== | ==Gross Pathology== | ||
*On gross pathology, [feature1], [feature2], and [feature3] are characteristic findings of [disease name]. | *On gross pathology, [feature1], [feature2], and [feature3] are characteristic findings of [disease name]. | ||
<figure-inline><figure-inline><figure-inline><figure-inline><figure-inline>[[File:Behcet's syndrome 11.jpeg|502x502px]]</figure-inline></figure-inline></figure-inline></figure-inline></figure-inline> | <figure-inline><figure-inline><figure-inline><figure-inline><figure-inline><figure-inline>[[File:Behcet's syndrome 11.jpeg|502x502px]]</figure-inline></figure-inline></figure-inline></figure-inline></figure-inline></figure-inline> | ||
==Microscopic Pathology== | ==Microscopic Pathology== |
Revision as of 16:17, 22 March 2018
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Cafer Zorkun, M.D., Ph.D. [2]
Overview
The exact pathogenesis of [disease name] is not fully understood.
OR
It is thought that [disease name] is the result of / is mediated by / is produced by / is caused by either [hypothesis 1], [hypothesis 2], or [hypothesis 3].
OR
[Pathogen name] is usually transmitted via the [transmission route] route to the human host.
OR
Following transmission/ingestion, the [pathogen] uses the [entry site] to invade the [cell name] cell.
OR
[Disease or malignancy name] arises from [cell name]s, which are [cell type] cells that are normally involved in [function of cells].
OR
The progression to [disease name] usually involves the [molecular pathway].
OR
The pathophysiology of [disease/malignancy] depends on the histological subtype.
Pathophysiology
Pathogenesis
- The exact pathogenesis of [disease name] is not fully understood.
OR
- It is understood that behcet disease is the result of vasculitis. It involves all sizes of blood vessels ( small, medium, and large). Arteries and venis are both involved in behcet disease. Major mechanisms in pathogenesis of behcet disease include:
- Polygenic
- s with other autoimmune diseases, the disorder may represent aberrant immune activity triggered by exposure to an agent, perhaps infectious, in patients with a genetic predisposition to develop the disease. Major disease mechanisms in Behçet syndrome include the following
- [Pathogen name] is usually transmitted via the [transmission route] route to the human host.
- Following transmission/ingestion, the [pathogen] uses the [entry site] to invade the [cell name] cell.
- [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
- [Disease name] is transmitted in [mode of genetic transmission] pattern.
- Genes involved in the pathogenesis of behcet disease include human leukocyte antigens, particularly HLA-B51. [1]
- Familial cases of behcet disease have higher rates of HLA-B51 in compare to sporadic cases.[2]
- Genetic anticipation: earlier age of onset of disease in children of pateints with behcet disease.[3]
- Some studies shows that major histocompatibility complex class I chain related gene A (MICA) A6 allele is related to behcet disease. [4]
- Non-HLA genes als have roles in behcet diesease. They include: [5]
- Non-HLA genes also play a role in determining susceptibility to disease. Genome-wide screening of affected families with more than one affected member has identified additional, non-HLA regions of potential interest [44]. Examples include associations between Behçet syndrome and:
- The development of behcet disease is the result of multiple genetic mutations.
Associated Conditions
Gross Pathology
- On gross pathology, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].
<figure-inline><figure-inline><figure-inline><figure-inline><figure-inline><figure-inline></figure-inline></figure-inline></figure-inline></figure-inline></figure-inline></figure-inline>
Microscopic Pathology
- On microscopic histopathological analysis, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].
References
- ↑ de Menthon M, Lavalley MP, Maldini C, Guillevin L, Mahr A (October 2009). "HLA-B51/B5 and the risk of Behçet's disease: a systematic review and meta-analysis of case-control genetic association studies". Arthritis Rheum. 61 (10): 1287–96. doi:10.1002/art.24642. PMC 3867978. PMID 19790126.
- ↑ Akpolat T, Koç Y, Yeniay I, Akpek G, Güllü I, Kansu E, Kiraz S, Ersoy F, Batman F, Kansu T (November 1992). "Familial Behçet's disease". Eur J Med. 1 (7): 391–5. PMID 1341477.
- ↑ Fresko I, Soy M, Hamuryudan V, Yurdakul S, Yavuz S, Tümer Z, Yazici H (January 1998). "Genetic anticipation in Behçet's syndrome". Ann. Rheum. Dis. 57 (1): 45–8. PMC 1752455. PMID 9536823.
- ↑ Wei F, Zhang YU, Li W (June 2016). "A meta-analysis of the association between Behçet's disease and MICA-A6". Biomed Rep. 4 (6): 741–745. doi:10.3892/br.2016.644. PMC 4887777. PMID 27284416.
- ↑ Sakane T, Takeno M (September 2000). "Novel approaches to Behçet's disease". Expert Opin Investig Drugs. 9 (9): 1993–2005. doi:10.1517/13543784.9.9.1993. PMID 11060788.
- ↑ Karasneh JA, Hajeer AH, Silman A, Worthington J, Ollier WE, Gul A (May 2005). "Polymorphisms in the endothelial nitric oxide synthase gene are associated with Behçet's disease". Rheumatology (Oxford). 44 (5): 614–7. doi:10.1093/rheumatology/keh561. PMID 15705632.
- ↑ Ahmad T, Wallace GR, James T, Neville M, Bunce M, Mulcahy-Hawes K, Armuzzi A, Crawshaw J, Fortune F, Walton R, Stanford MR, Welsh KI, Marshall SE, Jewell DP (March 2003). "Mapping the HLA association in Behçet's disease: a role for tumor necrosis factor polymorphisms?". Arthritis Rheum. 48 (3): 807–13. doi:10.1002/art.10815. PMID 12632436.
- ↑ Salvarani C, Boiardi L, Casali B, Olivieri I, Cantini F, Salvi F, Malatesta R, La Corte R, Triolo G, Ferrante A, Filippini D, Paolazzi G, Sarzi-Puttini P, Nicoli D, Farnetti E, Chen Q, Pulsatelli L (September 2004). "Vascular endothelial growth factor gene polymorphisms in Behçet's disease". J. Rheumatol. 31 (9): 1785–9. PMID 15338501.
- ↑ Nakao K, Isashiki Y, Sonoda S, Uchino E, Shimonagano Y, Sakamoto T (February 2007). "Nitric oxide synthase and superoxide dismutase gene polymorphisms in Behçet disease". Arch. Ophthalmol. 125 (2): 246–51. doi:10.1001/archopht.125.2.246. PMID 17296902.
- ↑ Tursen U, Tamer L, Api H, Yildirim H, Baz K, Ikizoglu G, Atik U (February 2007). "Cytochrome P450 polymorphisms in patients with Behcet's disease". Int. J. Dermatol. 46 (2): 153–6. doi:10.1111/j.1365-4632.2007.02957.x. PMID 17269966.
- ↑ Sousa I, Shahram F, Francisco D, Davatchi F, Abdollahi BS, Ghaderibarmi F, Nadji A, Mojarad Shafiee N, Xavier JM, Oliveira SA (October 2015). "Brief report: association of CCR1, KLRC4, IL12A-AS1, STAT4, and ERAP1 With Behçet's disease in Iranians". Arthritis Rheumatol. 67 (10): 2742–8. doi:10.1002/art.39240. PMID 26097239.
- ↑ Yalçin B, Atakan N, Dogan S (December 2014). "Association of interleukin-23 receptor gene polymorphism with Behçet disease". Clin. Exp. Dermatol. 39 (8): 881–7. doi:10.1111/ced.12400. PMID 25156021.