Prevalence of the factor V-Leiden mutation among autopsy patients with pulmonary thromboembolic disease using an improved method for factor V-Leiden detection

Activated protein C resistance caused by factor V-Leiden mutation is the mo st common inherited predisposing cause of venous thromboembolism, including pulmonary embolism (PE). We studied whether the incidence of factor V-Leid en is higher among patients with PE evident at autopsy than in the general population. Paraffin-embedded fixed tissue blocks from all autopsy patients with diagnosed pulmonary thromboembolic disease during a 4-year period wer e collected for DNA extraction. Extraction and molecular analysis of the DN A was performed with an improved technique with an internal control to dete rmine the presence of factor V-Leiden mutation. Analysis of 82 autopsy case s with PE yielded 5 patients who were heterozygotes. Seventy-seven of the 8 2 patients analyzed were normal, and no homozygotes for factor V-Leiden mut ation were identified. This yielded a positive rate of 6% overall and 7% am ong white patients, which is similar to the incidence of heterozygotes in t he white population. This study indicates that routine determination of fac tor V-Leiden mutation is not warranted for patients with PE diagnosed at au topsy.