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To the Editor: Cerebral venous thrombosis (CVT) is a rare cause of stroke with a variable clinical picture. A search for underlying disorders may be successful in 65% to 80% of cases.1,2 Over the past few years, activated protein C (APC) resistance has been identified as the most common hereditary thrombophilic factor in CVT.3,4 More recently, a mutation in the prothrombin gene at position 20210 has been found in pedigrees with venous thrombosis.5 We report the case of a patient with puerperal CVT with hereditary APC resistance, who in addition showed a heterozygous mutation in the prothrombin gene at position 20210. A 30-year-old, previously healthy woman suffered a generalized seizure after a 10-day-long headache episode 5 weeks after she had given birth to her first child. After the ictus she was confused and …

Three infants with familial factor V Leiden mutation and neonatal cerebrovascular disorders are reported from the Children’s Hospital of Philadelphia, PA.

It's bright, but epidemiology and publicity can be a dangerous mix Few can challenge the assertion that epidemiology has been central in the control of infectious diseases, nor that it has contributed more than any other discipline in the identification of causes of cardiovascular diseases (from the classic to the more recently identified)1 2 and several forms of cancer (from tobacco smoking and occupational carcinogens to several infectious agents).3 4 5 However, concern has recently arisen that epidemiology has either exhausted its potential or, worse, is generating conflicting results that confuse the public and disorient policy makers. The argument about stagnation is hardly justified. The clarification of the role of blood lipids and the documentation of the effects of aspirin, ethanol, homocysteine, and factor V Leiden mutation are major recent breakthroughs in cardiovascular epidemiology, as is the identification of hepatitis viruses B and C and certain strains of human papillomavirus as definitive human carcinogens. Even a result that has been so consistent as to become boring—the protection provided by vegetables and fruits against several forms of cancer6—was not universally accepted 20 years ago. …

Introduction: Factor V Leiden is the most common inherited risk factor for venous thromboembolism (VTE). A four- to sevenfold increased risk of VTE for the heterozygous state has been reported by numerous epidemiological studies but most of them did not include patients over 70 years. Surprisingly, we found in a previous study no association between Factor V Leiden and VTE in patients over 70 years. Methods Therefore we conducted a large hospital-based matched case-control study to test the hypothesis of an interaction between age and the factor V mutation, as well as G20210A prothrombin gene variation. Results: We analysed 392 patients experiencing VTE not related to a major acquired risk factor and their matched controls. Factor V Leiden was not associated with VTE in patients aged 80 years and over: odds ratio 0.8 (95%CI 0.2-3.4). There was a significant interaction between age and the mutation for VTE risk (p=0.03). Conversely, the association between the G20210A variant and VTE was consistent across age-groups: odds ratio 2.8 (95%CI 1.4–5.8). In conclusion, age may modify the relation between factor V Leiden and VTE. The prevalence of the factor V mutation decreased with increasing age among patients with VTE but not among controls.

Introduccion. La trombosis venosa (TV) es una patologia poco frecuente en Pediatria. Se han descrito un gran numero de factores de riesgo protrombotico. Las alteraciones de la coagulacion se presentan en mas de la mitad de los ninos con accidente cerebrovascular. La mutacion del factor V de Leiden (FVL) destaca como una de las causas geneticas mas comunes de TV profunda en ninos y adultos de raza caucasica, y representa un 20-25% segun las series. Caso clinico. Nina de 2 anos con enfermedad hipoxicoisquemica y sindrome de West, que presenta una TV profunda de ambas extremidades inferiores. El cuadro evoluciona hacia gangrena y precisa escariectomia y amputacion del 2.o, 3.o y 4.o dedos del pie izquierdo; ademas, se desarrolla un infarto hemorragico intraparenquimatoso frontoparietal derecho con extension hematica tetraventricular e hidrocefalia, que precisa la colocacion de un drenaje ventricular externo y, posteriormente, una valvula de derivacion ventriculoperitoneal. Conclusiones. En el estudio de la coagulacion se confirma la mutacion del FVL en la paciente y el estudio practicado a los progenitores demostro la misma mutacion en el padre. El riesgo de recurrencia y la gravedad de la TV obligan al tratamiento antiagregante de por vida, que actualmente realiza con acido acetilsalicilico

The Factor V Leiden Mutation and the Prothrombin G20210A Mutation Was not Found in Japanese Patients with Pulmonary Thromboembolism

Recurrent pregnancy loss may result from hypercoagulability.To determine whether women with factor V Leiden mutation, a common inherited defect of coagulation, are at increased risk for recurrent pregnancy loss.Case-control study.University hospital.113 consecutive women referred for evaluation of recurrent spontaneous abortion (case-patients) and 437 postmenopausal women with at least one successful pregnancy and no history of pregnancy loss (controls). An additional survey of 387 postmenopausal women with at least one pregnancy loss was also conducted.Prevalence of factor V Leiden mutation determined by a second-generation screening test for resistance to activated protein C with genetic confirmation of all borderline and low-value results.Prevalence of the factor V Leiden mutation was greater among case-patients (8.0%) than among controls (3.7%) (odds ratio, 2.3 [95% CI, 1.0 to 5.2]; P = 0.050). In the subgroup of case-patients with three or more pregnancy losses and no successful pregnancies, prevalence of the mutation was 9.0% (odds ratio, 2.6 [CI, 1.0 to 6.7]; P = 0.048). Among the additional women surveyed, the prevalence of the mutation in those with three or more pregnancy losses (7.5%) was almost identical to that in case-patients. Thus, in all evaluated women with several pregnancy losses, the prevalence of factor V Leiden was increased 2.2-fold (P = 0.026).These data are compatible with the hypothesis that factor V Leiden mutation may play a role in some cases of unexplained recurrent pregnancy loss.

Source Citation Price DT, Ridker PM. Factor V Leiden mutation and the risks for thromboembolic disease: a clinical perspective. Ann Intern Med. 1997 Nov 15;127:895-903.