Fatal Pulmonary Thromboembolism and Hereditary Thrombophilias

Abstract

Pulmonary thromboembolism (PE) is found commonly in forensic pathology practice, as it typically causes sudden death. It is attributed to a wide variety of predominantly acquired etiologies. Although likely etiologically multifactorial, some common proximate causes include: surgery, pregnancy, injury, inactivity of any cause, cancer, obesity, or serum hyperviscosity. On occasion, no apparent predisposing condition is identified. In these instances, occult hereditary thrombophilias may play a causal role. Deaths referred to the Office of Chief Medical Examiner (OCME) of New York City between December, 2000 and September, 2003 and due to PE were retrospectively reviewed. Molecular analysis (FRET) was performed on selected cases for three common hereditary thrombophilias: mutations in factor V Leiden (FVL), prothrombin G20210A (PT), and methylenetetrahydrofolate reductase (MTHFR).During the study period, 124 of 15,280 deaths were primarily attributable to PE. Of those, 34 were selected for molecular analysis. One or more mutations were detected in 35% of those, five of which were clearly causally related to death. Given the potential benefits to surviving family members, our data indicate that postmortem molecular testing for the common hereditary thrombophilias is warranted in at least selected cases.

Sudden adult death

“…Although most cases arise from deep veins of the calves, other sites, such as the broad ligament veins should be considered [286]. If there is no apparent underlying cause at postmortem examination a disorder of coagulation should be suspected [277,287,288] and family members may require screening.…”

Pulmonary embolism and sudden–unexpected death: Prospective study on 2477 forensic autopsies performed at the Institute of Legal Medicine in Seville

“…Acquired risk factors include immobilization, increasing age, surgery, malignancies, obesity, pregnancy, puerperium, oral contraceptives and long-haul air travels. 2,5 Inherited conditions (hereditary thrombophilias) include factor V Leiden leading to activated protein C resistance, prothrombin gene mutation, and deficiences of antithrombin (I, II and III), protein C or protein S. [6][7][8][9][10] PE is a well-known entity in forensic pathology and is described in most standard Forensic Pathology textbooks 11,12 as well as in some recent studies from medical examiners offices. [7][8][9][10] There are also other studies on clinical autopsies on previously hospitalized 1752-928X/$ -see front matter Ó 2008 Elsevier Ltd and Faculty of Forensic and Legal Medicine.…”

Massive Pulmonary Embolism as a Rare Cause of Sudden Infant Death: Medico-legal Implications

“…Ely et al [7] reported a sudden death by pulmonary embolism in an infant suffering from hereditary occult thrombophilia. Hemophilia and especially thrombopathy is risk factors of pulmonary embolism by inducing the formation of thrombus.…”