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Journals / Toraks Dergisi / 2008 / Cilt: 9 - Sayı: 2

Recurrent deep venous thrombosis and pulmonary embolism in a patient with homozygous factor V leiden (G1691A) gene mutation

Homozigot faktör V leiden (G1691A) mutasyonuna bağlı tekrarlayan derin ven trombozu ve pulmoner emboli olgusu

Nesrin SARMAN
Pages
80–83
DOI
—
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

The treatment protocol was reviewed and it was decided that the anticoagulation therapy should be lifelong, maintaining INR as 2.0-3.0 unless a contraindication or complication developed.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Factor V Leiden gene mutation is the most common inherited risk factor for deep venous thrombosis (DVT).
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Key Findings & Data:The prevalence of Factor V Leiden and Factor II prothrombin gene mutations was reported at about 5-10% and 2% (as heterozygous mutations), respectively in whites.
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Conclusion & Impact:The treatment protocol was reviewed and it was decided that the anticoagulation therapy should be lifelong, maintaining INR as 2.0-3.0 unless a contraindication or complication developed.
🔬Design:Review & Systematic Survey
📍Scope:Comprehensive Sample
⚙️Variables:Venöz tromboz · Antikoagülanlar · Kadın

Abstract

Factor V Leiden gene mutation is the most common inherited risk factor for deep venous thrombosis (DVT). The prevalence of Factor V Leiden and Factor II prothrombin gene mutations was reported at about 5-10% and 2% (as heterozygous mutations), respectively in whites. Homozygosity for these mutations is less common, with a prevalence of 0.02% for Factor V Leiden and 0.014% for Factor II mutation. We diagnosed homozygous Factor V Leiden G 1691 A gene mutation in a a 52-yr-old female patient taking oral anticoagulation therapy following the diagnosis of Pulmonary Embolism (PE) and recurrent DVT (3 times) for 7 years with different treatment regimens. To date, the underlying etiology was unknown and her compliance with the treatment was poor. The treatment protocol was reviewed and it was decided that the anticoagulation therapy should be lifelong, maintaining INR as 2.0-3.0 unless a contraindication or complication developed.

Özet

Faktör V Leiden gen mutasyonu Derin Ven Trombozu’nda (DVT) en sık karşılaşılan herediter risk faktörüdür. Faktör V Leiden ve Faktör II protrombin heterozigot gen mutasyonları %5-10 ve %2 oranında (sırasıyla) beyaz ırkta görülmektedir. Daha nadir görülen homozigot mutasyonlar Faktör V için % 0.02 ve Faktör II için % 0.014 olarak bildirilmiştir. Tekrarlayan DVT (3 kez) ve pulmoner emboli (PE) nedeniyle 7 yıldır farklı protokollerde oral antikoagülan ve düşük molekül ağırlıklı heparin tedavisi alan 52 yaşında kadın olguda, tedavi uyumundaki sıkıntılar nedeni ile etiyolojiye yönelik araştırmalarda homozigot faktör V Leiden (G 1691 A) gen mutasyonu saptandı. Tedavi protokolü tekrar gözden geçirilerek komplikasyon ve kontraendikasyon olmadığı sürece oral antikoagülan tedavinin INR:2.0-3.0 arası hedeflenerek ömür boyu uygulanmasına karar verildi.

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Cite This Article

SARMAN, N. (2008). Recurrent deep venous thrombosis and pulmonary embolism in a patient with homozygous factor V leiden (G1691A) gene mutation. Toraks Dergisi, Cilt: 9 - Sayı: 2, 80–83. https://ajindex.com/articles/368147

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