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

Abstract

Activated protein C resistance caused by factor V(Leiden) mutation is the most common inherited predisposing cause of venous thromboembolism, including pulmonary embolism (PE). We studied whether the incidence of factor V(Leiden) 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 were collected for DNA extraction. Extraction and molecular analysis of the DNA was performed with an improved technique with an internal control to determine the presence of factor V(Leiden) mutation. Analysis of 82 autopsy cases with PE yielded 5 patients who were heterozygotes. Seventy- seven of the 82 patients analyzed were normal, and no homozygotes for factor V(Leiden) mutation were identified. This yielded a positive rate of 6% overall and 7% among white patients, which is similar to the incidence of heterozygotes in the white population. This study indicates that routine determination of factor V(Leiden) mutation is not warranted for patients with PE diagnosed at autopsy.