ReviewJournal of investigative medicine high impact case reports
Prothrombin G20210A Gene Mutation-Induced Recurrent Deep Vein Thrombosis and Pulmonary Embolism: Case Report and Literature Review.
Review in Journal of investigative medicine high impact case reports. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 27 citations in OpenAlex.
- Unprovoked Extensive Cerebral Venous Sinus Thrombosis in a Heterozygous Prothrombin G20210A Mutation Carrier: A Rare Case Report.Journal of community hospital internal medicine perspectives · 2026Article
- Nitrous oxide abuse unmasking anti-phospholipid syndrome in a 24-year-old male with cerebral venous thrombosis and pulmonary thromboembolism: a case report.BMC neurology · 2025Article
- From Circulating Biomarkers to Polymorphic Variants: A Narrative Review of Challenges in Thrombophilia Evaluation.Journal of clinical medicine · 2025Review
- Efficacy and safety of anti-Xa direct oral anticoagulants vs. warfarin in patients homozygous for Factor V Leiden and prothrombin G20210A mutations.Journal of thrombosis and thrombolysis · 2025Article
- Case Report: A heterozygous loss-of-function variant of theFrontiers in cardiovascular medicine · 2025Article
- Development of a predictive model for deep vein thrombosis in burn patients based on the Caprini Risk Assessment Scale.American journal of translational research · 2025Article
- Recurrent Early Pregnancy Loss and Congenital Thrombophilia: A Prospective Study.Journal of clinical medicine · 2024Article
- Antiphospholipid syndrome with major arterial thrombosis, presenting as pulmonary thromboembolism, cerebrovascular accident, and coronary artery disease: A case report and literature review.Clinical case reports · 2024Article
- Mesenteric Ischemia in a Splenectomized Patient with Auto-Immune Hemolytic Anemia: Case Report.Medicina (Kaunas, Lithuania) · 2023Article
- Hearing Loss and Blood Coagulation Disorders: A Review.Hematology reports · 2023Review
- Acute Myocardial Infarction in Patients with Hereditary Thrombophilia-A Focus on Factor V Leiden and Prothrombin G20210A.Life (Basel, Switzerland) · 2023Review
- Internal Carotid Artery Dissection With Thrombosis in a Child With Prothrombin Gene Mutation.Cureus · 2023Article
- "Unraveling the Clot-Miscarriage Nexus: Mechanisms, Management, and Future Directions in Thrombosis-Related Recurrent Pregnancy Loss".Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/HemostasisReview
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Inherited thrombophilia is an important cause of venous thrombosis. The Factor V Leiden (FVL) is the most commonly encountered mutation, followed by the prothrombin G20210A gene mutation (PTM). The typical venous thrombotic events (VTEs) associated with PTM mutations are deep vein thrombosis (DVT) and pulmonary embolisms (PE). The PTM is inherited in an autosomal dominant pattern with variable penetrance. While heterozygous PTM mutations are more frequent and well documented in the literature, rare cases of homozygous PTM mutations are also reported. In this report, we discuss a 56-year-old male with a past medical history of homozygous prothrombin gene mutation (G20210A) who presented with an unprovoked DVT of the right lower extremity involving both the proximal and distal veins associated with multiple bilateral PEs. This case is unique in terms of the homozygous PTM inheritance, the age at which the patient presented (usually presentation is earlier in life), and the fact that he had a recurrence of both DVT and PE simultaneously.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.