Abstract
Portal
ven trombusu; portal hipertansiyonun sebeplerinden bir tanesidir. Portal venin
tıkanması, yavaş ve iyi tolere edilebilen bir durum olabileceği gibi, şiddetli
ve potansiyel olarak ölümcül bir durumda olabilir. Trombofili, tromboza eğilim
oluşturan durumları tanımlayan bir terimdir. Trombofili çok yaygın bir fenomen
değildir ve edinsel ve konjenital sebepleri vardır. Kalıtımsal trombofilik
anormallikler, portal ven trombusu gelişiminde rol oynarlar. Bunlar arasında
Faktör V Leiden mutasyonu, Protrombin 20210A mutasyonu, protein S ve C
eksiklikleri ve antitrombin 3 eksikliği en sık bilinen ve trombofilik
hastalarda en sık etiyolojik faktör olarak sorgulanan faktörlerdir. Bu olgu sunumu ile portal ven trombusu
bulunan ve karaciğer sirozu ile kliniğimize başvuran, etiyolojik araştırmalar
neticesinde MTHFR geni homozigot mutasyonu tespit edilen 37 yaşındaki bayan
hastayı sunmayı amaçladık.
Keywords
References
- 1-Hooper WC, Evatt BL. The role of activated protein C resistance in the pathogenesis of venous thrombosis. Am J Med Sci 1998; 316(2): 120-8
- 2-Martinelli I, De Stefano V, Mannucci PM. Inherited risk factors for venous thromboembolism. Nat Rev Cardiol 2014; 11(3): 140-56
- 3- Franco RF, Reitsma PH. Genetic risk factors of venous thrombosis. Hum Genet 2001; 109(4): 369-84
- 4-Rosendaal FR. Venous thrombosis: the role of genes environment, and behavior. Hematology Am Soc Hematol Educ Program 2005: 1-12
- 5- Beyan C. Trombofilili hastada tanısal yaklaşım. Türk Hematoloji Derneği- Temel Hemostaz tromboz Kursu 68-74
- 6-Varga EA, Sturm AC, Misita CP, et al. Homocysteine and MTHFR mutations relation to thrombosis and coronary artery disease. Circulation 2005; (111): 289-293.
- 7- Gürsoy G, Çimbek A, Acar Y, et al. Combined portal, splenic and mesenteric venous thrombosis in inactive ulcerative colitis with heterozygous mutation in MTHFR gene: A rare case of thrombophilia J Res Med Sci 2011; 16(11): 1500–1506
- 8- Küçükkaya RD, Aydın M. Trombofili genetiği. Türk Hematoloji Derneği. Moleküler Hematoloji Kursu. www.thd.org.tr/thdData/userfiles/file/molhem_13.pdf 01.08.2016
- 9-Bayan K, Tüzün Y, Yılmaz S, et al. Analysis of inherited thrombophilic mutations and natural anticoagulant deficiency in patients with idiopatic portal hypertension. J Thromb Thrombolysis 2009; 28(1): 57-62
- 10-Elhajj II, Salem ZM, Birjawi GA, et al. Heterozygous prothrombin 20210G/A mutation, associated with hyperhomocysteinemia and homozygous methylenetetrahydrofolate reductase 677C/T mutation in a patient with portal and mesenteric venous thrombosis. Hematol J 2004; 5(6): 540-2
- 11-Gabr MA, Bessa SS, El-Zamarani EA. Portal vein thrombosis in Egyptian patients with liver cirrhosis: role of methylenetetrahydrofolate reductase C677T gene mutation. Hepatol Res 2010; 40(5): 486-93
- 12-Zhou XM, Lin JS, Sun XM, et al. The relationship between the plasma homocysteine level and the polymorphism of MHFR gene C677T in liver cirhosis. Zhonghua Gan Zang Bing Za Zhi 2005; 13(12): 908-10
- 13- Erkan O, Bozdayı AM, Dişibeyaz S, et al . Thrombophilic gene mutations in cirrhotic patients with portal vein thrombosis. Eur J Gastroenterol Hepatol. 2005 Mar; 17(3): 339-43
- 14- Çayır K, Çadırcı K, Bilici M, ve ark. Faktör V Leiden mutasyonuna bağlı gelişen portal ven trombusu. Haseki Tıp Bülteni 2009; 47(4): 181-2
Abstract
Portal
vein thrombosis is one of the causes of portal hypertension. Portal vein
thrombosis can be a cause slowly and well tolerance, and severely and mortal.
Thrombophilia, forming tendency of thrombosis is a term that describes
situations. Thrombophilia is not a very common phenomenon and has acquired or
congenital causes. Inherited
thrombophilic abnormalities may
have a role in the development of portal
vein thrombosis. These include the Factor V Leiden and prothrombin 20210A
mutation, protein S, C, and antithrombin 3 deficiency is the most common and
known thrombophilic patients are questioned as to why the most common
etiological factor. In this case presentation,
we report a 37 year old woman patient with portal vein thrombosis and to
apply our clinic with liver cirrhosis that outcome MTHFR homozygous gene mutation.
References
- 1-Hooper WC, Evatt BL. The role of activated protein C resistance in the pathogenesis of venous thrombosis. Am J Med Sci 1998; 316(2): 120-8
- 2-Martinelli I, De Stefano V, Mannucci PM. Inherited risk factors for venous thromboembolism. Nat Rev Cardiol 2014; 11(3): 140-56
- 3- Franco RF, Reitsma PH. Genetic risk factors of venous thrombosis. Hum Genet 2001; 109(4): 369-84
- 4-Rosendaal FR. Venous thrombosis: the role of genes environment, and behavior. Hematology Am Soc Hematol Educ Program 2005: 1-12
- 5- Beyan C. Trombofilili hastada tanısal yaklaşım. Türk Hematoloji Derneği- Temel Hemostaz tromboz Kursu 68-74
- 6-Varga EA, Sturm AC, Misita CP, et al. Homocysteine and MTHFR mutations relation to thrombosis and coronary artery disease. Circulation 2005; (111): 289-293.
- 7- Gürsoy G, Çimbek A, Acar Y, et al. Combined portal, splenic and mesenteric venous thrombosis in inactive ulcerative colitis with heterozygous mutation in MTHFR gene: A rare case of thrombophilia J Res Med Sci 2011; 16(11): 1500–1506
- 8- Küçükkaya RD, Aydın M. Trombofili genetiği. Türk Hematoloji Derneği. Moleküler Hematoloji Kursu. www.thd.org.tr/thdData/userfiles/file/molhem_13.pdf 01.08.2016
- 9-Bayan K, Tüzün Y, Yılmaz S, et al. Analysis of inherited thrombophilic mutations and natural anticoagulant deficiency in patients with idiopatic portal hypertension. J Thromb Thrombolysis 2009; 28(1): 57-62
- 10-Elhajj II, Salem ZM, Birjawi GA, et al. Heterozygous prothrombin 20210G/A mutation, associated with hyperhomocysteinemia and homozygous methylenetetrahydrofolate reductase 677C/T mutation in a patient with portal and mesenteric venous thrombosis. Hematol J 2004; 5(6): 540-2
- 11-Gabr MA, Bessa SS, El-Zamarani EA. Portal vein thrombosis in Egyptian patients with liver cirrhosis: role of methylenetetrahydrofolate reductase C677T gene mutation. Hepatol Res 2010; 40(5): 486-93
- 12-Zhou XM, Lin JS, Sun XM, et al. The relationship between the plasma homocysteine level and the polymorphism of MHFR gene C677T in liver cirhosis. Zhonghua Gan Zang Bing Za Zhi 2005; 13(12): 908-10
- 13- Erkan O, Bozdayı AM, Dişibeyaz S, et al . Thrombophilic gene mutations in cirrhotic patients with portal vein thrombosis. Eur J Gastroenterol Hepatol. 2005 Mar; 17(3): 339-43
- 14- Çayır K, Çadırcı K, Bilici M, ve ark. Faktör V Leiden mutasyonuna bağlı gelişen portal ven trombusu. Haseki Tıp Bülteni 2009; 47(4): 181-2
Details
| Subjects | Health Care Administration |
|---|---|
| Journal Section | Case report |
| Authors | |
| Publication Date | September 1, 2017 |
| Published in Issue | Year 2017 Volume: 9 Issue: 3 |
e-ISSN: 2548-0251
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