Shared familial aggregation of susceptibility to different manifestations of venous thromboembolism: A nationwide family study in Sweden

摘要

A strong association between deep venous thrombosis (DVT) of the lower limbs and pulmonary embolism (PE) exists (Stein et al, 2010). Thus, DVT and PE are generally considered to be different manifestations of the same disease - venous throm-boembolism (VTE). As PE is believed to be a complication of DVT, the genetic risk factors for PE and DVT are considered to be the same. This has been questioned by Desmarais et al (1996), who reported that the risk of PE in patients with APC-resistance (resistance to activated protein C) was lower than that of DVT. The phenomenon of F5 rs6025 (factor V Leiden) associated with APC-resistance being a less important risk factor for PE than for DVT of the lower limbs is known as the factor V Leiden paradox (Bounameaux, 2000). The value of family history of DVT as a risk indicator for DVT has been assessed (Bezemer et al, 2009). The predictive value of family history for detecting any major genetic risk factors for DVT is however low (Bezemer et al, 2009), suggesting that other genetic or non-genetic familial factors may be important.