Bezemer Irene D, van der Meer Felix J M, Eikenboom Jeroen C J, Rosendaal Frits R, Doggen Carine J M
Department of Clinical Epidemiology, Leiden University Medical Center, the Netherlands.
Arch Intern Med. 2009 Mar 23;169(6):610-5. doi: 10.1001/archinternmed.2008.589.
A positive family history of venous thrombosis may reflect the presence of genetic risk factors. Once a risk factor has been identified, it is not known whether family history is of additional value in predicting an individual's risk. We studied the contribution of family history to the risk of venous thrombosis in relation to known risk factors.
In the Multiple Environmental and Genetic Assessment of risk factors for venous thrombosis, a population-based case-control study, we collected blood samples and information about family history and environmental triggers from 1605 patients with a first venous thrombosis and 2159 control subjects.
A total of 505 patients (31.5%) and 373 controls (17.3%) reported having 1 or more first-degree relatives with a history of venous thrombosis. A positive family history increased the risk of venous thrombosis more than 2-fold (odds ratio [95% confidence interval], 2.2 [1.9-2.6]) and up to 4-fold (3.9 [2.7-5.7]) when more than 1 relative was affected. Family history corresponded poorly with known genetic risk factors. Both in those with and without genetic or environmental risk factors, family history remained associated with venous thrombosis. The risk increased with the number of factors identified; for those with a genetic and environmental risk factor and a positive family history, the risk was about 64-fold higher than for those with no known risk factor and a negative family history.
Family history is a risk indicator for a first venous thrombosis, regardless of the other risk factors identified. In clinical practice, family history may be more useful for risk assessment than thrombophilia testing.
静脉血栓形成的阳性家族史可能反映出遗传危险因素的存在。一旦确定了一个危险因素,家族史在预测个体风险方面是否具有额外价值尚不清楚。我们研究了家族史与已知危险因素相关的静脉血栓形成风险的关系。
在静脉血栓形成危险因素的多环境和遗传评估中,一项基于人群的病例对照研究,我们从1605例首次发生静脉血栓形成的患者和2159例对照受试者中采集了血样以及有关家族史和环境触发因素的信息。
共有505例患者(31.5%)和373例对照(17.3%)报告有1名或更多名有静脉血栓形成病史的一级亲属。阳性家族史使静脉血栓形成风险增加2倍以上(比值比[95%置信区间],2.2[1.9 - 2.6]),当有1名以上亲属患病时风险增加至4倍(3.9[2.7 - 5.7])。家族史与已知遗传危险因素的相关性较差。无论有无遗传或环境危险因素,家族史均与静脉血栓形成相关。风险随着确定的因素数量增加而增加;对于有遗传和环境危险因素且家族史阳性的患者,其风险比无已知危险因素且家族史阴性的患者高约64倍。
家族史是首次发生静脉血栓形成的风险指标,与所确定的其他危险因素无关。在临床实践中,家族史可能比血栓形成倾向检测在风险评估中更有用。