Cerebral Vein Thrombosis not Related to Use of Oral Contraceptives in a 7-year-old Child Carrier of the Prothrombin 20210A Allele

Abstract

102 years, range 100-109) were collected within a period of one year from the General Registry Offices, were ambulatory, self-sufficient, and lived in their homes in metropolitan communities of Northern Italy (Milan, Modena, Genova and the corresponding provinces) (4). Exclusion criteria were infection, inflammation, cancer, dementia, diabetes, renal and liver disease. Healthy individuals (n = 568; 207 males and 361 females, median age 45, range 14-79) were chosen from the general population from the same communities in Northern Italy. Arterial or venous thrombotic disease was excluded on the basis of clinical history and physical examination and using a structured validated questionnaire (4). Genomic DNA was prepared by standard techniques and the prothrombin mutation was detected by allele specific amplification (ASA) (5). There were four heterozygotes (all women) among 125 centenarians (allele frequency 1.6%; 95% CI 0-1.6) and 16 (9 women and 7 men) among 568 controls (allele frequency 1.4%; 95% CI 0.7-2). Allele frequencies (1.6% vs 1.4%) did not differ in the two groups (p = 0.8; odds ratio 1.1:95% CI 0.4-3.5). None of the centenarians studied was homozygous for the G20210A mutation nor had a double defect (factor V G1691A and prothrombin G20210A mutations). Because there was a greater proportion of women among centenarians, 94 female centenarians were compared with 361 female controls. Allele frequencies were not substantially different from those found in the whole population. None of the controls had a double gene defect of factor V and prothrombin mutation. All the four centenarians heterozygous for the prothrombin G20210A mutation had been exposed during their long life to circumstantial thrombotic risk factors such as pregnancy, major surgery, trauma without any antithrombotic prophylaxis and yet they did not develop symptomatic deep venous thrombosis. As previously found for the factor V G1691A mutation (4, 6, 7), the prevalence of the 20210A allele is similar in centenarians and in healthy individuals, indicating that these mutations associated with thrombophilia are compatible with longevity and successful aging.