Fatal Cerebral Venous Sinus Thrombosis Associated with the Factor V Leiden Mutation and the Use of Oral Contraceptives

Bridey, Françoise; Wolff, Matthew R.; Jp, Laissy; Morin,; Lefèbvre, M.; D, de Prost

doi:10.1055/s-0038-1649947

Cited by 17 publications

(11 citation statements)

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“…APC resistance and/or the F V :Q 506 allele was found in 46-60%, whereas corresponding number in women with thrombosis occurring during oral contraceptive usage was 30% [61,62] Deep venous thrombosis is the most common manifestation of APC resistance, but pulmo nary embolism and superficial thrombophlebitis also affect many patients [15,38,65,66], APC resistance does not appear to be an important risk factor for arterial thrombosis [9,15,44,48,50,[67][68][69][70][71][72][73][74][75][76][77], However, all studies so far have been performed on survivors and it is not possible to exclude that APC resistance affect the prognosis of patients with manifest atherosclerosis. Speculatively, the hypercoagulability caused by APC resistance could increa se the risk for thrombotic occlusion at a hypercoagulable surface like a manifest arterioscle rotic plaque.…”

Section: Epidemiology and Clinical Manifestations Of Apc Resistancementioning

confidence: 99%

Inherited Resistance To Activated Protein C Caused By Presence Of The FV:Q<sup>506</sup> Allele As A Basis Of Venous Thrombosis

Dahlbäck

Zöller²,

Hillarp³

1996

Pathophysiol Haemos Thromb

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Inherited resistance to activated protein C (APC) was recently discovered as a cause of familial throm-bophilia and is now known to be the most common genetic risk factor for venous thrombosis. In a majority of cases, APC resistance is associated with a single point mutation in the factor V gene, which results in substitution of arginine (R) at position 506 by glutamine (Q) (FV:Q⁵⁰⁶). The mutation renders factor Va partially resistant to degradation by activated protein C (APC), which leads to a hypercoagulable state and a life-long 5–10-fold increased risk of venous thrombosis. The previously known inherited deficiencies of antithrombin, protein S or protein C, are in western societies together found in less than 10–15% of thrombosis patients, whereas APC resistance is present in 20 to 60% of the patients. A functional APC resistance test, which includes predilution of the patient plasma with factor V deficient plasma, is 100% sensitive and specific for the presence of FV:Q⁵⁰⁶. The FV:Q⁵⁰⁶ allele is common in populations of Caucasian origin (prevalence ranging between 1 and 15%), whereas it is not found in certain other ethnic groups such as in Japanese and Chinese. The thrombotic risk in individuals with APC resistant may be further increased by other genetic defects such as protein C or protein S deficiency and by exposure to circumstantial risk factors such as oral contraceptives, pregnancy, immobilisation and surgery.

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Section: Epidemiology and Clinical Manifestations Of Apc Resistancementioning

confidence: 99%

Inherited Resistance To Activated Protein C Caused By Presence Of The FV:Q<sup>506</sup> Allele As A Basis Of Venous Thrombosis

Dahlbäck

Zöller²,

Hillarp³

1996

Pathophysiol Haemos Thromb

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“…We had too few patients with venous strokes to reach any conclusions about associations, but other reports have described patients with venous strokes and factor V Leiden. [37][38][39][40][41][42][43][44][45][46][47] In these series, 11% to 21% of patients with cerebral venous thrombosis have carried factor V Leiden. 40,43,46 More patients will need to be studied before a conclusion can be reached about a possible association between the prothrombin variant and venous stroke.…”

mentioning

confidence: 99%

Risk of Stroke in Young Women and Two Prothrombotic Mutations: Factor V Leiden and Prothrombin Gene Variant (G20210A)

Longstreth

Rosendaal

Siscovick

et al. 1998

Stroke

165

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Background and Purpose-Factor V Leiden and a prothrombin gene variant, G20210A, are mutations associated with a thrombotic risk. The aim of our study was to assess whether these mutations increase the risk of stroke in women under 45 years of age. Methods-We conducted a case-control study in western Washington state. Case patients were women aged 18 to 44 years with a first stroke (nϭ106). Control subjects were women without stroke recruited from the same region by use of random-digit telephone dialing (nϭ391). All were interviewed and provided blood specimens, which were genotyped for these mutations. Results-Factor V Leiden was found in 0.9% of case patients, a single patient with a subarachnoid hemorrhage, and in 4.1% of control subjects. The odds ratio (OR) for any stroke was 0.2 (95% confidence interval [CI], 0.03 to 1.7). The prothrombin variant was found in 1.9% of case patients, 1 with a venous stroke and 1 with an ischemic stroke, and in 1.6% of control subjects. The OR for any stroke was 1.48 (95% CI, 0.14 to 9.17). ORs for stroke types were also not statistically significant. Conclusions-In this study, neither factor V Leiden nor the prothrombin variant (G20210A) was an important risk factor for stroke in young women. In this setting, screening for these mutations cannot be recommended. Unanswered by this study is whether screening would be useful in select patients, such as those with a strong family history of thrombophilia or those with venous strokes. (Stroke. 1998;29:577-580.)Key Words: cerebrovascular disorders Ⅲ mutation Ⅲ factor V Ⅲ prothrombin F actor V Leiden and a recently described variant of the prothrombin gene are both clotting factor mutations that are associated with an increased tendency for venous thrombosis.1-4 Factor V Leiden is a single-point mutation on the factor V gene in which adenine is substituted for guanine at nucleotide position 1691. The mutation results in a change in the factor V molecule where activated protein C would normally cleave and partially inactivate factor V. The result is a resistance to activated protein C.1,2 In a recently described prothrombin variant, adenine is substituted for guanine at position 20210 (G20210A) in the noncoding 3Ј terminal end of the prothrombin gene. 3,4 This variant is associated with increased prothrombin levels. Although the prothrombin molecule is normal, its expression is not. Factor V Leiden is a relatively common hereditary abnormality with a 3% to 5% prevalence of heterozygous carriers, 2 whereas the prothrombin variant, at 1% to 3%, is less prevalent.3,4 Although the association of these mutations with venous thrombosis has been demonstrated, 1-4 the association with arterial disease has not. As recently reviewed, the studies have not been consistent with respect to an association of factor V Leiden with coronary artery disease and myocardial infarction, 5 and the studies of the prothrombin variant are limited. 6 Although information on the prothrombin variant in patients with ischemic stroke is limited to a single negative...

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“…The first 2 descriptions were published in 1994 6 and 1995. 7 In 1996, 9 additional case histories were reported. 8 -13 Another 6 case reports followed in 1997, 14 -18 and 1 was published in 1998.…”

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confidence: 99%

Factor V Leiden Mutation Is a Risk Factor for Cerebral Venous Thrombosis

Lüdemann

Nabavi

Junker

et al. 1998

Stroke

113

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Background and Purpose-Different coagulation disorders have been associated with cerebral venous thrombosis (CVT).Until now, fewer than 50 patients have been reported with CVT and the factor V Leiden (FVL) mutation. Although the prevalence of FVL-positive patients with CVT ranged from 10% to 25%, it was as low as 0.5% to 3% in the control groups. Most other studies had not systematically searched for concomitant risk factors or previous thromboembolic events. To better define the relevance of the FVL mutation in conjunction with additional risk factors in CVT, we conducted the present case-control study. Methods-Fifty-five patients with CVT were compared with 272 healthy controls. A standardized interview regarding established risk factors for venous thrombosis and the patients' and their families' histories for thromboembolic events was performed. The presence of the FVL mutation was determined by polymerase chain reaction on DNA obtained from peripheral blood leukocytes. Results-Of 55 patients, 8 (14.5%) were heterozygous for the FVL mutation compared with 17 of 272 controls (6.25%).The relative risk for the presence of FVL was 2.55 (95% confidence interval, 1.04 to 6.26; Pϭ0.04). Additional risk factors for CVT were frequently found in both the presence and absence of FVL. Recurrence of venous thromboembolic events was more frequent in patients with the FVL mutation (5 of 8 patients, 62.5%) than in those without this anomaly (8 of 47 patients, 17%; PϽ0.005). Conclusions-Our

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Fatal Cerebral Venous Sinus Thrombosis Associated with the Factor V Leiden Mutation and the Use of Oral Contraceptives

Cited by 17 publications

References 1 publication

Inherited Resistance To Activated Protein C Caused By Presence Of The FV:Q<sup>506</sup> Allele As A Basis Of Venous Thrombosis

Inherited Resistance To Activated Protein C Caused By Presence Of The FV:Q<sup>506</sup> Allele As A Basis Of Venous Thrombosis

Risk of Stroke in Young Women and Two Prothrombotic Mutations: Factor V Leiden and Prothrombin Gene Variant (G20210A)

Factor V Leiden Mutation Is a Risk Factor for Cerebral Venous Thrombosis

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