Heterozygous prothrombin 20210G/A mutation, associated with hyperhomocysteinemia, and homozygous methylenetetrahydrofolate reductase 677C/T mutation, in a patient with portal and mesenteric venous thrombosis

Hematology Journal

Volumn 5, Issue 6, 2004, Pages 540-542

  Elhajj, Ihab I ^a   Salem, Ziad M K ^a   Birjawi, Ghina A ^a   Taher, Ali T ^a   Soweid, Assaad M ^a  

^a AMERICAN UNIVERSITY OF BEIRUT   (Lebanon)

Author keywords

Factor II 20210G A mutation; Hyperhomocysteinemia; MTHFR 677C T mutation; Porto mesenteric vein thrombosis

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); ADENINE; ANTICOAGULANT AGENT; CYANOCOBALAMIN; CYTOSINE; FOLIC ACID; GUANINE; HEPARIN; PROTHROMBIN; THYMINE;

ABDOMINAL PAIN; ADULT; AGAR GEL ELECTROPHORESIS; ARTICLE; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; DISEASE SEVERITY; DOPPLER ECHOGRAPHY; ECHOGRAPHY; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HYPERHOMOCYSTEINEMIA; MALE; MESENTERIC VEIN THROMBOSIS; MUTATIONAL ANALYSIS; POLYMERASE CHAIN REACTION; PORTAL VEIN THROMBOSIS;

ADULT; HETEROZYGOTE; HOMOZYGOTE; HUMANS; HYPERHOMOCYSTEINEMIA; MALE; MESENTERIC VASCULAR OCCLUSION; MESENTERIC VEINS; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); POINT MUTATION; PORTAL VEIN; PROTHROMBIN; VENOUS THROMBOSIS;

EID: 11044231850     PISSN: 14664860     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.thj.6200560     Document Type: Article

References (16)

1. Al Karawi MA, Quaiz M, Clark D, Hilali A, Mohamed AE, Jawdat M. Mesenteric vein thrombosis, non-invasive diagnosis and follow-up (US+MRI) and non-invasive therapy by streptokinase and anticoagulants. Hepatogastroenterology 1990; 37: 507-509.
2. Blum U, Haag K, Rossle M, Ochs A, Gabelmann A, Boos S et al. Noncavernomatous portal vein thrombosis in hepatic cirrhosis: treatment with transjugular intrahepatic portosystemic shunt and local thrombolysis. Radiology 1995; 195: 153-157.
3. Souto JC, Coll I, Llobet D, del Rio E, Oliver A, Mateo J et al. The prothrombin 20210A allele is the most prevalent genetic risk factor for venous thromboembolism in the Spanish population. Thromb Haemost 1998; 80: 366-369.
4. Chamouard P, Pencreach E, Maloisel F, Grunebaum L, Ardizzone JF, Meyer A et al. Frequent factor II G20210A mutation in idiopathic portal vein thrombosis. Gastroenterology 1999; 116: 144-148.
5. Deloughery TG, Evans A, Sadeghi A, McWilliams J, Henner WD, Taylor LM et al. Common mutation in methylenetetrahydrofolate reductase. Circulation 1996; 94: 3074-3078.
6. Hainaut P, Jaumotte C, Verhelst D, Wallemacq P, Gala JL, Lavenne E et al. Hyperhomocysteinemia and venous thromboembolism: a risk factor more prevalent in the elderly and idiopathic cases. Thromb Res 2002; 106: 121-125.
7. Lee R, Frenkel EP. Hyperhomocysteinemia and thrombosis. Hematol Oncol Clin N Am 2003; 17: 85-102.
8. Falcon CR, Cattaneo M, Panzeri D, Martinelli I, Mannucci PM. High prevalence of hyperhomocysteinemia in patients with juvenile venous thrombosis. Arterioscler Thromb 1994; 14: 1080-1083.
9. den Heijer M, Koster T, Blom HJ, Bos GM, Briet E, Reitsma PH et al. Hyperhomocysteinemia as a risk factor for venous thromboembolic disease. N Engl J Med 1996; 334: 759-762.
10. Marie I, Levesque H, Lecam-Duchez V, Borg JY, Ducrotte P, Philippe C. Mesenteric venous thrombosis revealing both factor II G20210A mutation and hyperhomocysteinemia related to pernicious anemia. Gastroenterolgy 2000; 118: 237-238.
11. Silingardi M, Ghirarduzzi A, Galimberti D, Iorio A, Iori I. Mesenteric-portal vein thrombosis in a patient with hyperhomocysteinemia and heterozygous for 20210A prothrombin allele. Thromb Haemost 2000; 84: 358-359.
12. De Stefano V, Casorelli I, Rossi E, Zappacosta B, Leone G. Interaction between hyperhomocysteinemia and inherited thrombophilic factors in venous thromboembolism. Semin Thromb Hemost 2000; 26: 305-311.
13. Ocal IT, Sadeghi A, Press RD. Risk of venous thrombosis in carriers of a common mutation in the homocysteine regulatory enzyme methylenetetrahydrofolate reductase. Mol diagn 1997; 2: 61-68.
14. Brown K, Luddington R, Baglin T. Effect of MTHFR C677T variant on risk of venous thromboembolism: interaction with factor V Leiden and prothrombin (F2G20210A) mutations. Br J Haematol 1998; 103: 42-44.
15. Ridker PM, Hennekens CH, Selhub J, Miletich JP, Malinow MR, Stampfer MJ. Interrelation of hyperhomocysteinemia, factor V Leiden, and risk of future venous thromboembolism. Circulation 1997; 95: 1777-1782.
16. Taher A, Khalil I, Shamseddine A, El-Ahdab F, Bazarbachi A. High prevalence of Factor V mutation among healthy individuals and patients with deep venous thrombosis in Lebanon: is the Eastern Mediterranean region the area of origin of this mutation? Thromb Haemost 2001; 86: 723-724.