Prothrombin 20210G/A Mutation in Two Patients with Mesenteric Ischemia

Overview

Journal Dig Dis Sci

Specialty Gastroenterology

Date 1999 Oct 3

PMID 10505734

Citations 2

Authors

A Balian

A Veyradier

S Naveau

M Wolf

S Montembault

V Giraud

E Borotto

C Henry

D Meyer

J C Chaput

Affiliations

Soon will be listed here.

Abstract

Primary cases of splanchnic vein thrombosis are now less common since a systematic screening for hypercoagulability is performed. In 1996, a sequence variation in the 3'-untranslated region of the prothrombin gene (F.II 20210G/A mutation) has been linked to a threefold increased risk for venous thrombosis. The role of this thrombophilic disorder is not documented in patients with thrombosis of the splanchnic veins. This report presents two patients with a mesenteric ischemia associated with a heterozygous state for the F.II 20210G/A mutation. The first patient developed an ischemic colitis and the second one an ischemic necrosis of the terminal ileum related to a thrombosis of the superior mesenteric vein. In both cases, another thrombotic risk factor was associated: either a general prothrombic state (primary antiphospholipid syndrome) or a focal factor (abnormal hemodynamic conditions related to a liver cirrhosis). It has recently been proposed that several conditions need to be combined for deep vein thrombosis to develop. Screening for the combination of multiple underlying prothrombotic conditions thus appears justified in patients with splanchnic thrombosis. The role of the F.II 20210G/A mutation as a predisposing factor for thrombosis of the digestive vessels should be considered and needs further investigation.

Citing Articles

Bilateral Superficial Femoral Artery Thrombosis in a 15-Year-Old Caucasian Male with Homozygous Prothrombin G20210A Genotype and Associated Antiphospholipid Syndrome.

Yoon U, Kwok L, Flessenkaemper I Int J Angiol. 2016; 25(5):e100-e105.

PMID: 28031668 PMC: 5186255. DOI: 10.1055/s-0035-1548557.

Ischemic colitis: clinical practice in diagnosis and treatment.

Theodoropoulou A, Koutroubakis I World J Gastroenterol. 2008; 14(48):7302-8.

PMID: 19109863 PMC: 2778113. DOI: 10.3748/wjg.14.7302.

References

Veyradier A, Wolf M, Boyer-Neumann C, Parent F, Simonneau G, Meyer D . Recurrent thromboembolism in two unrelated patients with double heterozygosity for factor V R506Q and factor II 20210G/A mutations. Thromb Haemost. 1998; 80(1):201-2. View

Brown K, Luddington R, Williamson D, Baker P, Baglin T . Risk of venous thromboembolism associated with a G to A transition at position 20210 in the 3'-untranslated region of the prothrombin gene. Br J Haematol. 1997; 98(4):907-9. DOI: 10.1046/j.1365-2141.1997.3093130.x. View

Martinelli I, Sacchi E, Landi G, Taioli E, Duca F, Mannucci P . High risk of cerebral-vein thrombosis in carriers of a prothrombin-gene mutation and in users of oral contraceptives. N Engl J Med. 1998; 338(25):1793-7. DOI: 10.1056/NEJM199806183382502. View

Biousse V, Conard J, Brouzes C, Horellou M, Ameri A, Bousser M . Frequency of the 20210 G-->A mutation in the 3'-untranslated region of the prothrombin gene in 35 cases of cerebral venous thrombosis. Stroke. 1998; 29(7):1398-400. DOI: 10.1161/01.str.29.7.1398. View

Pelletier S, Landi B, Piette J, Ekert P, Coutellier A, Desmoulins C . Antiphospholipid syndrome as the second cause of non-tumorous Budd-Chiari syndrome. J Hepatol. 1994; 21(1):76-80. DOI: 10.1016/s0168-8278(94)80140-1. View

Denninger M, Helley D, Valla D, Guillin M . Prospective evaluation of the prevalence of factor V Leiden mutation in portal or hepatic vein thrombosis. Thromb Haemost. 1997; 78(4):1297-8. View

Makris M, Preston F, Beauchamp N, Cooper P, Daly M, Hampton K . Co-inheritance of the 20210A allele of the prothrombin gene increases the risk of thrombosis in subjects with familial thrombophilia. Thromb Haemost. 1998; 78(6):1426-9. View

Leroyer C, Mercier B, Oger E, Chenu E, Abgrall J, Ferec C . Prevalence of 20210 A allele of the prothrombin gene in venous thromboembolism patients. Thromb Haemost. 1998; 80(1):49-51. View

Petri M . The clinical syndrome associated with antiphospholipid antibodies. J Rheumatol. 1992; 19(4):505-7. View

10.

Gould J, Deam S, Dolan G . Prothrombin 20210A polymorphism and third generation oral contraceptives--a case report of coeliac axis thrombosis and splenic infarction. Thromb Haemost. 1998; 79(6):1214-5. View

11.

Reuner K, Ruf A, Litfin F, Patscheke H . The mutation G20210-->A in the prothrombin gene is a strong risk factor for pulmonary embolism. Clin Chem. 1998; 44(6 Pt 1):1365-6. View

12.

SAS G, Blasko G, Petro I, Griffin J . A protein S deficient family with portal vein thrombosis. Thromb Haemost. 1985; 54(3):724. View

13.

Heresbach D, Pagenault M, Gueret P, Crenn P, Malledant Y, Fauchet R . Leiden factor V mutation in four patients with small bowel infarctions. Gastroenterology. 1997; 113(1):322-5. DOI: 10.1016/s0016-5085(97)70110-0. View

14.

Mambrini P, Mallet D, OCallaghan T, Sebahoun G, SALDUCCI J, Grimaud J . Budd-Chiari syndrome and activated protein C resistance. J Hepatol. 1996; 24(2):246. DOI: 10.1016/s0168-8278(96)80036-5. View

15.

Valla D, Casadevall N, Huisse M, Tulliez M, Grange J, Muller O . Etiology of portal vein thrombosis in adults. A prospective evaluation of primary myeloproliferative disorders. Gastroenterology. 1988; 94(4):1063-9. DOI: 10.1016/0016-5085(88)90567-7. View

16.

Asherson R, Morgan S, Harris E, Gharavi A, Krausz T, Hughes G . Arterial occlusion causing large bowel infarction--a reflection of clotting diathesis in SLE. Clin Rheumatol. 1986; 5(1):102-6. DOI: 10.1007/BF02030977. View

17.

Bloem B, van Putten M, van der Meer F, van Hilten J, Bertina R . Superior sagittal sinus thrombosis in a patient heterozygous for the novel 20210 A allele of the prothrombin gene. Thromb Haemost. 1998; 79(1):235. View

18.

Ludwig D, Stahl M, Bruning A, Siemens A, Zwaan M, Schmucker G . Ischemic colitis, pulmonary embolism, and right atrial thrombosis in a patient with inherited resistance to activated protein C. Dig Dis Sci. 1998; 43(6):1362-7. View

19.

Bucciarelli P, Franchi F, Alatri A, Bettini P, Moia M . Budd-Chiari syndrome in a patient heterozygous for the G20210A mutation of the prothrombin gene. Thromb Haemost. 1998; 79(2):445-6. View

20.

Poort S, Rosendaal F, Reitsma P, Bertina R . A common genetic variation in the 3'-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. Blood. 1996; 88(10):3698-703. View