title: Fatal pulmonary thromboembolism. A retrospective autopsy study: searching for genetic thrombophilias (Factor V Leiden (G1691A) and FII (G20210A) gene variants) and dating the thrombus.
abstract: The accuracy of antemortem diagnosis of pulmonary embolism is within the range of just 10-30%, so representing one of the most frequent missed diagnosis in sudden, unexpected death. We describe 43 fatal cases of pulmonary embolism as confirmed by post-mortem examination. The aim of our study was to verify the systematic search for the most common genetic thrombophilias (Factor V Leiden (G1691A) and FII (G20210A) gene variants) and dating the thrombus. As a whole, 41 patients (95.3%) had at least one risk factor. Pre-existing symptoms are described just before fatal embolism in 18 (41.9%) out 43 patients. In 18 out of 43 (41.9%) it was not possible to find the thrombotic site. In 24 out of the remaining 25 cases the involvement of the deep veins of one leg was shown; in 1 case the thrombus was localised in the inferior caval vein. 10 (41.7%) were iliac vein thromboses, 7 (29.1%) femoral, 2 (8.3%) popliteal, 3 (12.6%) posterior-tibial, 1 (4.1%) anterior-tibial and 1 (4.1%) peroneal vein thromboses. In our cohort of patients, 4 (10%) out of 40 cases carried the 20210A prothrombin gene variant in heterozygosis. One (2.5%) out of 40 carried the Factor V Leiden (G1691A) gene variant in heterozygosis. Patients carrying these gene variants in homozygosis or carrying both were not present in our case-series. We strongly underline the relevance of a complete methodological approach, integrating clinical data by means of autopsy findings and histological study. On the contrary, investigating common inherited thrombophilia is not warranted.
authors.affiliation: Department of Forensic Pathology, University of Foggia, Ospedale Colonnello D'Avanzo, Foggia, Italy. vfinesc@tin.it
authors.forename: Vittorio
authors.initials: V
authors.lastname: Fineschi
authors.forename: Valeria
authors.initials: V
authors.lastname: Bafunno
authors.forename: Stefania
authors.initials: S
authors.lastname: Bello
authors.forename: Francesco
authors.initials: F
authors.lastname: De Stefano
authors.forename: Maurizio
authors.initials: M
authors.lastname: Margaglione
authors.forename: Margherita
authors.initials: M
authors.lastname: Neri
authors.forename: Irene
authors.initials: I
authors.lastname: Riezzo
authors.forename: Emanuela
authors.initials: E
authors.lastname: Turillazzi
authors.forename: Alessandro
authors.initials: A
authors.lastname: Bonsignore
authors.forename: Gennaro
authors.initials: G
authors.lastname: Vecchione
authors.forename: Francesco
authors.initials: F
authors.lastname: Ventura
authors.forename: Elvira
authors.initials: E
authors.lastname: Grandone
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D005165:Factor V / Q000235:genetics*; D005260:Female; D049429:Forensic Pathology; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D011516:Prothrombin / Q000235:genetics*; D011655:Pulmonary Embolism / Q000473:pathology*; D012189:Retrospective Studies; D012307:Risk Factors; D020246:Venous Thrombosis / Q000235:genetics / Q000473:pathology*; D055815:Young Adult
chemical_list: C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin