A case with MTHFR gene mutation after secondary cirrhosis to portal vein thrombosis

Kenan Çadırcı; Ahmet Yalçın

doi:10.21601/ortadogutipdergisi.277896

ORTADOĞU TIP DERGİSİ - ORTADOGU MEDICAL JOURNAL

A case with MTHFR gene mutation after secondary cirrhosis to portal vein thrombosis

Portal ven trombozuna sekonder siroz gelişen MTHFR gen mutasyon olgusu

Kenan Çadırcı ¹ ^* , Ahmet Yalçın ²

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Ortadogu Tıp Derg, Volume 9, Issue 3, pp. 146-149

https://doi.org/10.21601/ortadogutipdergisi.277896

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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.

Keywords: Portal vein, Hereditary Thrombophilia, thrombosis

Öz

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: Portal ven, Kalıtsal trombofili, Tromboz

References

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
Martinelli I, De Stefano V, Mannucci PM. Inherited risk factors for venous thromboembolism. Nat Rev Cardiol 2014; 11(3): 140-56
Franco RF, Reitsma PH. Genetic risk factors of venous thrombosis. Hum Genet 2001; 109(4): 369-84
Rosendaal FR. Venous thrombosis: the role of genes environment, and behavior. Hematology Am Soc Hematol Educ Program 2005: 1-12
Beyan C. Trombofilili hastada tanısal yaklaşım. Türk Hematoloji Derneği- Temel Hemostaz tromboz Kursu 68-74
Varga EA, Sturm AC, Misita CP, et al. Homocysteine and MTHFR mutations relation to thrombosis and coronary artery disease. Circulation 2005; (111): 289-293.
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
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
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
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
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
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
Çayır K, Çadırcı K, Bilici M, Tekin SB, Keleş M, Emre H. Faktör V Leiden mutasyonuna bağlı gelişen portal ven trombüsü. Haseki Tıp Bülteni 2009;47:181-2.

Citation

Çadırcı K, Yalçın A. A case with MTHFR gene mutation after secondary cirrhosis to portal vein thrombosis. Ortadogu Tıp Derg. 2017;9(3):146-9. https://doi.org/10.21601/ortadogutipdergisi.277896

Çadırcı, K., & Yalçın, A. (2017). A case with MTHFR gene mutation after secondary cirrhosis to portal vein thrombosis. Ortadoğu Tıp Dergisi, 9(3), 146-149. https://doi.org/10.21601/ortadogutipdergisi.277896

Çadırcı, K., and Yalçın, A. (2017). A case with MTHFR gene mutation after secondary cirrhosis to portal vein thrombosis. Ortadoğu Tıp Dergisi, 9(3), pp. 146-149. https://doi.org/10.21601/ortadogutipdergisi.277896

Çadırcı K, Yalçın A. A case with MTHFR gene mutation after secondary cirrhosis to portal vein thrombosis. Ortadogu Tıp Derg. 2017;9(3), 146-149. https://doi.org/10.21601/ortadogutipdergisi.277896

Çadırcı, Kenan, and Ahmet Yalçın. "A case with MTHFR gene mutation after secondary cirrhosis to portal vein thrombosis". Ortadoğu Tıp Dergisi 2017 9 no. 3 (2017): 146-149. https://doi.org/10.21601/ortadogutipdergisi.277896

Çadırcı, Kenan et al. "A case with MTHFR gene mutation after secondary cirrhosis to portal vein thrombosis". Ortadoğu Tıp Dergisi, vol. 9, no. 3, 2017, pp. 146-149. https://doi.org/10.21601/ortadogutipdergisi.277896