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Provoked deep vein thrombosis and saddle pulmonary embolism in a pediatric patient with multiple genetic risk factors for venous thromboembolism
  • Karina Hofstee,
  • Sarah Sartain,
  • Mary Shapiro
Karina Hofstee
Baylor College of Medicine

Corresponding Author:karina.hofstee@bcm.edu

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Sarah Sartain
Baylor College of Medicine
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Mary Shapiro
Baylor College of Medicine
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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.
19 Jul 2022Published in Pediatric Blood & Cancer. 10.1002/pbc.29890