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Journals / Düzce Tıp Fakültesi Dergisi / 2026 / Volume: 27 Issue: 1

The Distribution of Hereditary Risk Factors in Patients with Pulmonary Thromboembolism without Identifiable Acquired Risk Factors

Tanımlanabilir Edinsel Risk Faktörleri Olmayan Pulmoner Tromboembolizmli Hastalarda Kalıtsal Risk Faktörlerinin Dağılımı

Savaş Gegin(Samsun Education and Research Hospital,Chest Diseases)0000-0001-7362-8710
Taner Karakaya(Samsun Training and Research Hospital,Medical Genetics)0000-0002-3437-5324
Esra Arslan Aksu(Samsun University Faculty of Medicine, Chest Diseases)0000-0003-0448-1801
Burcu Özdemir(Samsun Education and Research Hospital,Chest Diseases)0000-0003-4678-7729
Levent Özdemir(Samsun University Faculty of Medicine, Chest Diseases)0000-0002-3478-5454
Ahmet Cemal Pazarlı(Tokat Gaziosmanpaşa University Faculty of Medicine,Department of Pulmonary Diseases)0000-0002-7094-837X
Pages
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Publication Date
2025-04-30
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AI Summary & Key Takeaways

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

The results show a high prevalence of genetic causes, especially in patients under 50 years of age with no acquired risk factors, no history of recurrent PTE or thrombophilia in any family member.

📌 3 Key Takeaways

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Objective & Hypothesis:Aim: This study aimed to investigate the distribution of hereditary risk factors in patients with pulmonary thromboembolism (PTE) who have no acquired risk factors and to explore the relationship between genetic factors and the early mortality risk of embolism.
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Key Findings & Data:Material and Methods: Data from 295 patients diagnosed with PTE were examined retrospectively.
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Conclusion & Impact:The results show a high prevalence of genetic causes, especially in patients under 50 years of age with no acquired risk factors, no history of recurrent PTE or thrombophilia in any family member.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Pulmonary thrombo embolism · acquired risk factors · hereditary risk factors

Abstract

Aim: This study aimed to investigate the distribution of hereditary risk factors in patients with pulmonary thromboembolism (PTE) who have no acquired risk factors and to explore the relationship between genetic factors and the early mortality risk of embolism. Material and Methods: Data from 295 patients diagnosed with PTE were examined retrospectively. Of these, 44 patients who had no acquired risk factors and were screened for hereditary risk factors, including factor V Leiden (FVL), prothrombin (PT) G20210A, methylenetetrahydrofolate reductase (MTHFR) C677T, MTHFR A1298C, plasminogen activator inhibitor (PAI) 4G/5G, factor XIII, antithrombin (AT) III, protein C, protein S, and activated protein C resistance (APCR), were included in the study. Results: Of the patients, 14 (31.8%) were female and 30 (68.2%) were male, with a mean age of 46.5±17.3 years. Among the hereditary risk factors, the most common homozygous mutations were MTHFR A1298C (n=10, 22.7%), PAI 4G/5G (n=9, 20.5%), and FVL (n=5, 11.4%), while the most common heterozygous mutations were PAI 4G/5G (n=26, 59.1%), MTHFR A1298C (n=19, 43.2%), and MTHFR C677T (n=16, 36.4%). The heterozygous MTHFR A1298C mutation was detected in 10 (52.6%) patients with a history of recurrent PTE. Conclusion: This study highlights the presence of genetic mutations such as PAI 4G/5G, MTHFR A1298C, MTHFR C677T, FVL, factor XIII, and PT G20210A in patients with PTE. The results show a high prevalence of genetic causes, especially in patients under 50 years of age with no acquired risk factors, no history of recurrent PTE or thrombophilia in any family member.

Özet

Amaç: Bu çalışmada edinilmiş risk faktörü olmayan pulmoner tromboemboli (PTE) hastalarında kalıtsal risk faktörlerinin dağılımının araştırılması ve genetik faktörler ile emboli kaynaklı erken mortalite riski arasındaki ilişkinin araştırılması amaçlanmıştır. Gereç ve Yöntemler: PTE tanısı almış 295 hastanın verileri geriye dönük olarak incelendi. Bunlardan edinilmiş risk faktörü olmayan ve faktör V Leiden (FVL), protrombin (PT) G20210A, metilentetrahidrofolat redüktaz (MTHFR) C677T, MTHFR A1298C, plazminojen aktivatör inhibitörü (PAI) 4G/5G, faktör XIII, antitrombin (AT) III, protein C, protein S ve aktive protein C direnci (APCR) dahil olmak üzere kalıtsal risk faktörleri açısından taranan 44 hasta çalışmaya dahil edildi. Bulgular: Hastaların 14'ü (%31,8) kadın ve 30'u (%68,2) erkek olup, yaş ortalaması 46,5±17,3 yıl idi. Kalıtsal risk faktörleri arasında en sık görülen homozigot mutasyonlar MTHFR A1298C (n=10, %22,7), PAI 4G/5G (n=9, %20,5) ve FVL (n=5, %11,4) iken, en sık görülen heterozigot mutasyonlar PAI 4G/5G (n=26, %59,1), MTHFR A1298C (n=19, %43,2) ve MTHFR C677T (n=16, %36,4) idi. Tekrarlayan PTE öyküsü olan 10 (%52,6) hastada heterozigot MTHFR A1298C mutasyonu tespit edildi. Sonuç: Bu çalışma, PTE'li hastalarda PAI 4G/5G, MTHFR A1298C, MTHFR C677T, FVL, faktör XIII ve PT G20210A gibi genetik mutasyonların varlığını vurgulamaktadır. Sonuçlar, özellikle edinilmiş risk faktörü olmayan, tekrarlayan PTE öyküsü olmayan veya herhangi bir aile üyesinde trombofili olmayan 50 yaş altı hastalarda genetik nedenlerin yüksek prevalansta olduğunu göstermektedir.

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Cite This Article

Gegin, S., Karakaya, T., Aksu, E. A., Özdemir, B., Özdemir, L., Pazarlı, A. C. (2025). The Distribution of Hereditary Risk Factors in Patients with Pulmonary Thromboembolism without Identifiable Acquired Risk Factors. Düzce Tıp Fakültesi Dergisi, Volume: 27 Issue: 1. https://doi.org/10.18678/dtfd.1583292

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