Provoked deep vein thrombosis and saddle pulmonary embolism in a
pediatric patient with multiple genetic risk factors for venous
thromboembolism
Abstract
Heterozygous mutations in Factor V Leiden (FVL) or prothrombin G20210A
(PT-G20210A) are relatively common; the presence of
double-heterozygosity for these mutations is rare but may be as high as
5% in patients with deep vein thrombosis (DVT). Antiphospholipid
syndrome (APS) is a rare autoimmune disorder and commonly presents in
adolescents and young adults. This report describes the diagnosis,
treatment, and outcome for acute presentation of extensive lower
extremity DVT and saddle pulmonary embolism (PE) in a previously healthy
17-year-old male found to have multiple genetic risk factors including
double-heterozygosity for FVL/PT-G20210A and concurrent APS, which is
rare and not well-described.