Key result
A 56-year-old male with a homozygous prothrombin G20210A mutation developed recurrent deep vein thrombosis and pulmonary embolism, demonstrating the severe hypercoagulable risk associated with this rare genotype.
Why the study?
Heterozygous prothrombin G20210A gene mutations are well documented, but homozygous mutations presenting with simultaneous recurrent deep vein thrombosis and pulmonary embolism later in life are rarely reported.
Population
One 56-year-old male with homozygous prothrombin G20210A gene mutation presenting with unprovoked DVT and bilateral PEs
Design
Case report and literature review
Authors
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Alerts clinicians to high recurrent VTE risk in homozygous prothrombin G20210A; leaves open genotype-specific management strategies.
Case Report (n=1)
Homozygous prothrombin G20210A gene mutation can lead to severe, recurrent, and concurrent DVT and PE even in middle-aged patients, which can be managed with catheter-directed thrombolysis and novel oral anticoagulants.
Elkattawy et al. (2022) conducted a case report in Homozygous prothrombin G20210A mutation with recurrent DVT and PE (n=1). Homozygous prothrombin G20210A mutation was evaluated on Development of recurrent DVT and PE. A 56-year-old male with a homozygous prothrombin G20210A mutation developed recurrent deep vein thrombosis and pulmonary embolism, demonstrating the severe hypercoagulable risk associated with this rare genotype.
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