Highlights the limited scope of standard thrombophilia testing (only factor V Leiden and prothrombin G20210A) in young decedents with idiopathic fatal pulmonary embolism.
Supports thrombophilia evaluation in select young unprovoked fatal PE cases; leaves open whether variants should guide prevention or family screening.
Pulmonary embolism is caused by blockage of an artery in the lung due to a clot that travels from elsewhere in the body. The main causes are stasis, surgery and cancer, but older age, use of oral contraceptives, and prior unprovoked venous thromboembolism in non-anticoagulated patients are also clear risk factors for pulmonary embolism (Kline and Kabrhel, 2015). When pulmonary embolism causes sudden death and common risk factors are not identified in young decedents, thrombophilia tests are requested, but only factor V Leiden and prothrombin G20210A are sequenced.
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Irene Martínez‐Martínez (2017) studied this question.
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