Schramm W, Heinemann L A, Spannagl M, Dick A, Assmann A
Abteilung Hämostaseologie, Ludwig-Maximilians-Universität München.
Dtsch Med Wochenschr. 2000 Jan 7;125(1-2):2-6. doi: 10.1055/s-2007-1023875.
Familiar venous thromboembolic disease (VTE) is known to be related with factor V Leiden mutation (FVL), but also with other genetic markers. It is the objective to investigate of the BATER-study in a representative Bavarian cohort, and to assess whether they could predict VTE events. This paper shortly describes the study protocol, gives an overview of planned sub-studies, and provides first results of the historic cohort analysis.
The baseline survey of the cohort study of Bavarian women aged 18-49 years (random sample from the population) was performed in two samples in 1996 and 1997. It was planned to estimate a prevalence and predictive value of potential markers of VTE in a historic--prospective as well as concurrent approach with annual follow-up of the cohort. This representative cohort should build a basis for nested case-control studies and serve as a reference group for other analytical epidemiological studies in young women. 1685 women were ascertained (response rate 61%), underwent an inquiry, and provided blood samples for a blood bank; for this paper, complete data are available from 1650 women. Laboratory parameters were measured to determine APC resistance, FVL-mutation, antithrombin-, protein C and S deficiency, and were correlated to the results of a detailed, life-time history of thrombembolic events.
The prevalence of FVL mutation in the sample was 5.7% (95% confidence interval 4.6-6.6%). Other genetic VTE risk markers were observed to be less frequent than 1%. The positive predictive value (pPV) of FVL mutation for a VTE event is about 7%, but for a positive family history of VTE (first grade relatives) 3% only.
VTE events are rare in the German population of young women, even in cases of FVL mutation. A positive family history is rarely associated with the occurrence of VTE in women under 50 years of age, and the predictive value of FVL mutation is low. Therefore, a screening for FVL mutation is not justified unless there is suspicion of a high VTE risk for other reasons.
已知常见的静脉血栓栓塞性疾病（VTE）与凝血因子V莱顿突变（FVL）有关，但也与其他遗传标记有关。本研究的目的是在具有代表性的巴伐利亚队列中开展BATER研究，并评估这些遗传标记是否能够预测VTE事件。本文简要描述了研究方案，概述了计划中的子研究，并提供了历史队列分析的初步结果。
对18 - 49岁巴伐利亚女性队列研究（从人群中随机抽样）的基线调查于1996年和1997年分两个样本进行。计划采用历史前瞻性和同期研究方法，对该队列进行年度随访，以估计VTE潜在标记物的患病率和预测价值。这个具有代表性的队列应为巢式病例对照研究奠定基础，并作为年轻女性其他分析性流行病学研究的参考组。确定了1685名女性（应答率61%），她们接受了询问，并为血库提供了血样；本文所使用的完整数据来自1650名女性。测量实验室参数以确定活化部分凝血活酶时间比值、FVL突变、抗凝血酶、蛋白C和S缺乏情况，并将其与详细的血栓栓塞事件终生病史结果相关联。
样本中FVL突变的患病率为5.7%（95%置信区间4.6 - 6.6%）。观察到其他遗传性VTE风险标记物的频率低于1%。FVL突变对VTE事件的阳性预测值（pPV）约为7%，但对于VTE阳性家族史（一级亲属）仅为3%。
在德国年轻女性人群中，VTE事件很少见，即使在存在FVL突变的情况下也是如此。50岁以下女性的VTE发生很少与阳性家族史相关，且FVL突变的预测价值较低。因此，除非因其他原因怀疑存在高VTE风险，否则对FVL突变进行筛查是不合理的。
