RSS-Feed abonnieren
DOI: 10.1055/s-2007-1003926
© Thieme Medical Publishers
Thrombophilia Due to Factor V and Factor II Mutations and Formation of a Dural Arteriovenous Fistula: Case Report and Review of a Rare Entity
Publikationsverlauf
Publikationsdatum:
19. Dezember 2007 (online)
![](https://www.thieme-connect.de/media/sbs/200802/lookinside/thumbnails/10.1055-s-2007-1003926-1.jpg)
ABSTRACT
Genetic mutations underlying thrombophilia are often recognized in patients with thromboembolic episodes. However, the clinical and therapeutic implications of such findings often remain unclear. We report the first case of a dural arteriovenous fistula (DAVF) in a patient with a combined factor II and factor V Leiden mutation. A 40-year-old man presented with a large left temporal and intraventricular hemorrhage. An initial angiogram showed thrombosis of the left sigmoid sinus but no evidence of a vascular malformation. One year after the hemorrhage, an angiographic study showed the appearance of a right DAVF. During the follow-up period, the patient was found to harbor heterozygosity for a mutation of factor V and a mutation of factor II. Recognition of the patient's thrombophilia led to prolonged oral anticoagulation therapy to reduce the risk of a recurrent thrombotic episode. Despite the increased risk of bleeding, the therapy was considered justified. DAVFs may occur after sinus thrombosis in patients with combined factor II and factor V mutations. This observation indicates the association of multiple hematological disorders with DAVFs in individual patients. Moreover, it raises the clinical conundrum of how to manage patients with thrombophilia, intracranial hemorrhage, and DAVFs.
KEYWORDS
Factor V Leiden mutation - G20210A mutation - arteriovenous malformation - anticoagulation - hypercoagulable state
REFERENCES
- 1 Lanzino G, Jensen M E, Kongable G L, Kassell N F. Angiographic characteristics of dural arteriovenous malformations that present with intracranial hemorrhage. Acta Neurochir (Wien). 1994; 129 140-145
-
2 Halbach V V.
Embolization of dural arteriovenous malformations . In: Valavanis A Interventional Neuroradiology. Berlin/New York; Springer-Verlag 1993: 35-54 - 3 Gordon I J, Shah B L, Hardman D R, Chameides L. Giant dural supratentorial arteriovenous malformation. AJR Am J Roentgenol. 1977; 129 734-736
- 4 Newton T H, Cronqvist S. Involvement of dural arteries in intracranial arteriovenous malformations. Radiology. 1969; 93 1071-1078
- 5 Awad I A, Little J R, Akarawi W P, Ahl J. Intracranial dural arteriovenous malformations: factors predisposing to an aggressive neurological course. J Neurosurg. 1990; 72 839-850
- 6 Herman J M, Spetzler R F, Bederson J B, Kurbat J M, Zabramski J M. Genesis of a dural arteriovenous malformation in a rat model. J Neurosurg. 1995; 83 539-545
- 7 Houser O W, Campbell J K, Campbell R J, Sundt Jr T M. Arteriovenous malformation affecting the transverse dural venous sinus: an acquired lesion. Mayo Clin Proc. 1979; 54 651-661
- 8 Mullan S. Reflections upon the nature and management of intracranial and intraspinal vascular malformations and fistulae. J Neurosurg. 1994; 80 606-616
- 9 Ozawa T, Miyasaka Y, Tanaka R, Kurata A, Fujii K. Dural-pial arteriovenous malformation after sinus thrombosis. Stroke. 1998; 29 1721-1724
- 10 Deschiens M A, Conard J, Horellou M H et al.. Coagulation studies, factor V Leiden, and anticardiolipin antibodies in 40 cases of cerebral venous thrombosis. Stroke. 1996; 27 1724-1730
- 11 Kimber J. Cerebral venous sinus thrombosis. QJM. 2002; 95 137-142
- 12 Kraus J A, Stuper B K, Nahser H C, Klockgether T, Berlit P. Significantly increased prevalence of factor V Leiden in patients with dural arteriovenous fistulas. J Neurol. 2000; 247 521-523
- 13 Soleau S W, Schmidt R, Stevens S, Osborn A, MacDonald J D. Extensive experience with dural sinus thrombosis. Neurosurgery. 2003; 52 534-544
- 14 Svensson P J, Dahlback B. Resistance to activated protein C as a basis for venous thrombosis. N Engl J Med. 1994; 330 517-522
- 15 Dahlback B, Carlsson M, Svensson P J. Familial thrombophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to activated protein C: prediction of a cofactor to activated protein C. Proc Natl Acad Sci USA. 1993; 90 1004-1008
- 16 Koster T, Rosendaal F R, de Ronde H, Briet E, Vandenbroucke J P, Bertina R M. Venous thrombosis due to poor anticoagulant response to activated protein C: Leiden Thrombophilia Study. Lancet. 1993; 342 1503-1506
- 17 Price D T, Ridker P M, Factor V. Leiden mutation and the risks for thromboembolic disease: a clinical perspective. Ann Intern Med. 1997; 127 895-903
- 18 Rosendaal F R, Koster T, Vandenbroucke J P, Reitsma P H. High risk of thrombosis in patients homozygous for factor V Leiden (activated protein C resistance). Blood. 1995; 85 1504-1508
- 19 Sun X, Evatt B, Griffin J H. Blood coagulation factor Va abnormality associated with resistance to activated protein C in venous thrombophilia. Blood. 1994; 83 3120-3125
- 20 Poort S R, Rosendaal F R, Reitsma P H, Bertina R M. 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 3698-3703
- 21 Ridker P M, Hennekens C H, Miletich J P. G20210A mutation in prothrombin gene and risk of myocardial infarction, stroke, and venous thrombosis in a large cohort of US men. Circulation. 1999; 99 999-1004
- 22 De Stefano V, Martinelli I, Mannucci P M et al.. The risk of recurrent deep venous thrombosis among heterozygous carriers of both factor V Leiden and the G20210A prothrombin mutation. N Engl J Med. 1999; 341 801-806
- 23 Zoller B, Garcia D F, Hillarp A, Dahlback B. Thrombophilia as a multigenic disease. Haematologica. 1999; 84 59-70
- 24 Kraus J A, Stuper B K, Berlit P. Association of resistance to activated protein C and dural arteriovenous fistulas. J Neurol. 1998; 245 731-733
- 25 Gerlach R, Yahya H, Rohde S et al.. Increased incidence of thrombophilic abnormalities in patients with cranial dural arteriovenous fistulae. Neurol Res. 2003; 25 745-748
- 26 Cognard C, Gobin Y P, Pierot L et al.. Cerebral dural arteriovenous fistulas: clinical and angiographic correlation with a revised classification of venous drainage. Radiology. 1995; 194 671-680
- 27 Satomi J, van Dijk J M, Terbrugge K G, Willinsky R A, Wallace M C. Benign cranial dural arteriovenous fistulas: outcome of conservative management based on the natural history of the lesion. J Neurosurg. 2002; 97 767-770
- 28 Hamada Y, Goto K, Inoue T et al.. Histopathological aspects of dural arteriovenous fistulas in the transverse-sigmoid sinus region in nine patients. Neurosurgery. 1997; 40 452-456
- 29 Terada T, Higashida R T, Halbach V V et al.. Development of acquired arteriovenous fistulas in rats due to venous hypertension. J Neurosurg. 1994; 80 884-889
- 30 Lawton M T, Jacobowitz R, Spetzler R F. Redefined role of angiogenesis in the pathogenesis of dural arteriovenous malformations. J Neurosurg. 1997; 87 267-274
- 31 Zhu Y, Lawton M T, Du R et al.. Expression of hypoxia-inducible factor-1 and vascular endothelial growth factor in response to venous hypertension. Neurosurgery. 2006; 59 687-696
- 32 Einhaupl K M, Villringer A, Meister W et al.. Heparin treatment in sinus venous thrombosis. Lancet. 1991; 338 597-600
- 33 Bertina R M, Koeleman B P, Koster T et al.. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature. 1994; 369 64-67
- 34 Dahlback B. New molecular insights into the genetics of thrombophilia: resistance to activated protein C caused by Arg506 to Gln mutation in factor V as a pathogenic risk factor for venous thrombosis. Thromb Haemost. 1995; 74 139-148
- 35 Simioni P, Prandoni P, Lensing A W et al.. Risk for subsequent venous thromboembolic complications in carriers of the prothrombin or the factor V gene mutation with a first episode of deep-vein thrombosis. Blood. 2000; 96 3329-3333
- 36 Rees D C, Chapman N H, Webster M T, Guerreiro J F, Rochette J, Clegg J B. Born to clot: the European burden. Br J Haematol. 1999; 105 564-566
- 37 Rodeghiero F, Tosetto A. Activated protein C resistance and factor V Leiden mutation are independent risk factors for venous thromboembolism. Ann Intern Med. 1999; 130 643-650
- 38 Margaglione M, Brancaccio V, Giuliani N et al.. Increased risk for venous thrombosis in carriers of the prothrombin G→A20210 gene variant. Ann Intern Med. 1998; 129 89-93
- 39 Simioni P, Prandoni P, Lensing A W et al.. The risk of recurrent venous thromboembolism in patients with an Arg506-Gln mutation in the gene for factor V (factor V Leiden). N Engl J Med. 1997; 336 399-403
- 40 Martinelli I, Sacchi E, Landi G, Taioli E, Duca F, Mannucci P M. 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 1793-1797
- 41 De Stefano V, Martinelli I, Mannucci P M et al.. The risk of recurrent venous thromboembolism among heterozygous carriers of the G20210A prothrombin gene mutation. Br J Haematol. 2001; 113 630-635
- 42 Bauer K A. Role of thrombophilia in deciding on the duration of anticoagulation. Semin Thromb Hemost. 2004; 30 633-637
Peter NakajiM.D.
c/o Neuroscience Publications, Barrow Neurological Institute
350 W. Thomas Road, Phoenix, AZ 85013
eMail: neuropub@chw.edu