What is the risk of developing thrombosis in nonplatelet hemostatic disorders?

Updated: Oct 06, 2020
  • Author: Irene S Pakos, DO; Chief Editor: Perumal Thiagarajan, MD  more...
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Martinelli et al compared the lifetime probability of developing thrombosis, the type of thrombotic symptoms, and the role of circumstantial triggering factors in 723 first- and second-degree relatives of 150 index subjects with different thrombophilic defects. They found higher risks for thrombosis for subjects with antithrombin (risk ratio [RR], 8.1; 95% confidence interval [CI], 3.4-19.6), protein C deficiency (RR, 7.3; 95% CI, 2.9-18.4), or protein S deficiency (RR, 8.5; 95% CI, 3.5-20.8) compared with those with factor V Leiden (RR, 2.2; 95% CI, 1.1-4.7) or with individuals with normal coagulation. [64]

The risk of thrombosis for subjects with factor V Leiden was lower than that for subjects with any of the 3 other coagulation defects (RR, 0.3; 95% CI, 0.1-1.6), even when arterial and superficial vein thromboses (SVTs) were excluded and the analysis was restricted to deep vein thrombosis (DVT) (RR, 0.3; 95% CI, 0.2-0.5). No association was found between coagulation defects and arterial thrombosis. [64]

The most frequent venous problem was DVT with or without pulmonary embolism—90% in antithrombin III deficiency, 88% in protein C deficiency, 100% in protein S deficiency, and 57% in factor V Leiden—but SVT was also common with factor V Leiden (43%). Approximately 50% of subjects had a predisposing factor for thromboembolism, regardless of which underlying disorder was present. [64]

Estimates of the frequency of these defects in a population with venous thrombosis place antithrombin III deficiency at 0.5-4.9%, protein C deficiency at 1.4-8.6%, and protein S deficiency at 1.4-7.5%. [66] Factor V Leiden is the most common disorder and is found in 12-40% of white populations. Protein C and S deficiencies may be more prevalent in Asian populations than in white ones.

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