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Journals / Türk Göğüs Kalp Damar Cerrahisi Dergisi / 2009 / Cilt: 17 - Sayı: 4

Venous thromboembolism and inherited thrombophilia

Venöz tromboemboli ve kalıtsal trombofili

Serdal UĞURLU
Erhan ATAHAN
Cihat ŞARKIŞ
Erkan ÇAĞLAR
Pages
302–311
Publication Date
2022-11-05
DOI
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AI Summary & Key Takeaways

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

Reliable assays are now available to test for the presence of the various causes of inherited thrombophilia.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Inherited thrombophilia is a genetic tendency to venous thromboembolism.
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Key Findings & Data:Patients with a family history of thrombosis are at an increased risk for a mutation.
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Conclusion & Impact:Reliable assays are now available to test for the presence of the various causes of inherited thrombophilia.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Inherited thrombophilia is a genetic tendency to venous thromboembolism. Coagulation abnormalities are common in the general population and therefore will present spontaneously in some individuals. Patients with a family history of thrombosis are at an increased risk for a mutation. Factor V Leiden and the prothrombin, G20210A mutation the commonest inherited risk factors for thrombosis, are associated with an increased risk of venous thromboembolism. These causes of thrombophilia increase the risk of venous thromboembolism recurrence. Deficiencies in protein C, protein S, and antithrombin-III account for most of the remaining cases of thrombophilia. Inherited thrombophilia should be suspected in patients with one or more of the following clinical features: idiopathic thrombosis, thrombosis at a young age, recurrent thrombosis, and thrombosis at an unusual site. Reliable assays are now available to test for the presence of the various causes of inherited thrombophilia.

Özet

Kalıtsal trombofili venöz tromboembolizme genetik yatkınlıktır. Genel toplumda koagülasyon anormallikleri yaygındır ve bazı bireylerde herhangi bir risk faktörü olmadan spontan olarak da görülebilmektedir. Ailede tromboz öyküsü olanlarda, mutasyon bulunma olasılığı yüksektir. Tromboz için en sık görülen kalıtsal risk faktörleri olan faktör V Leiden ve protrombin G20210A gen mutasyonu venöz tromboembolim açısından yüksek risk taşırlar. Bu trombofili nedenleri, tekrarlayan venöz tromboemboli ataklarını artırmaktadır. Geriye kalan olguların çoğunda trombofili nedeni; protein C, protein S ve antitrombin-III eksikliğidir. Kalıtsal trombofiliden şüphe edilmesi gereken klinik tablolar; idiyopatik tromboz, genç yaşta geçirilen tromboz, tekrarlayan trombotik olaylar ve nadir olarak etkilenen damarlarda tromboembolik olayların ortaya çıkması şeklinde sıralanabilir. Kalıtsal trombofilinin çeşitli nedenlerinin varlığını test etmek açısından güvenilir testler bulunmaktadır.

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Cite This Article

UĞURLU, S., ATAHAN, E., ŞARKIŞ, C., ÇAĞLAR, E. (2022). Venous thromboembolism and inherited thrombophilia. Türk Göğüs Kalp Damar Cerrahisi Dergisi, Cilt: 17 - Sayı: 4, 302–311. https://ajindex.com/articles/624671

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