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

Savaş Gegin; Taner Karakaya; Esra Arslan Aksu; Burcu Özdemir; Levent Özdemir; Ahmet Cemal Pazarlı

Article Details

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

Authors:

Savaş Gegin | Taner Karakaya | Esra Arslan Aksu | Burcu Özdemir | Levent Özdemir | Ahmet Cemal Pazarlı

Publisher:

Duzce University

Main Topics:

Chest Diseases

Journal:

Duzce Medical Journal Vol.27 Issue 1, pp.69-74

Document Type:

Article

Publication Date:

4/2025

Document Language:

English

Document ID (Org No.):

2001338384

pISSN:

1307-671X

Keywords:

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 4G5G, 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 46.517.3 years. Among the hereditary risk factors, the most common homozygous mutations were MTHFR A1298C n10, 22.7, PAI 4G5G n9, 20.5, and FVL n5, 11.4, while the most common heterozygous mutations were PAI 4G5G n26, 59.1, MTHFR A1298C n19, 43.2, and MTHFR C677T n16, 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 4G5G, 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.

 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 4G5G, 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 46.517.3 years. Among the hereditary risk factors, the most common homozygous mutations were MTHFR A1298C n10, 22.7, PAI 4G5G n9, 20.5, and FVL n5, 11.4, while the most common heterozygous mutations were PAI 4G5G n26, 59.1, MTHFR A1298C n19, 43.2, and MTHFR C677T n16, 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 4G5G, 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.

 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 4G5G, 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 46.517.3 years. Among the hereditary risk factors, the most common homozygous mutations were MTHFR A1298C n10, 22.7, PAI 4G5G n9, 20.5, and FVL n5, 11.4, while the most common heterozygous mutations were PAI 4G5G n26, 59.1, MTHFR A1298C n19, 43.2, and MTHFR C677T n16, 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 4G5G, 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.

 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 4G5G, 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 14ü 31,8 kadın ve 30u 68,2 erkek olup, yaş ortalaması 46,517,3 yıl idi. Kalıtsal risk faktörleri arasında en sık görülen homozigot mutasyonlar MTHFR A1298C n10, 22,7, PAI 4G5G n9, 20,5 ve FVL n5, 11,4 iken, en sık görülen heterozigot mutasyonlar PAI 4G5G n26, 59,1, MTHFR A1298C n19, 43,2 ve MTHFR C677T n16, 36,4 idi. Tekrarlayan PTE öyküsü olan 10 52,6 hastada heterozigot MTHFR A1298C mutasyonu tespit edildi. Sonuç: Bu çalışma, PTEli hastalarda PAI 4G5G, 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.

Article Details

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

Authors:

Savaş Gegin | Taner Karakaya | Esra Arslan Aksu | Burcu Özdemir | Levent Özdemir | Ahmet Cemal Pazarlı

Publisher:

Duzce University

Main Topics:

Chest Diseases

Journal:

Duzce Medical Journal Vol.27 Issue 1, pp.69-74

Document Type:

Article

Publication Date:

4/2025

Document Language:

English

Document ID (Org No.):

2001338384

pISSN:

1307-671X

Pulmonary thrombo embolism

acquired risk factors

hereditary risk factorsPulmoner tromboemboli

edinilmiş risk faktörleri

kalıtsal risk faktörleri

Issues

Article Details

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

Authors: Savaş Gegin | Taner Karakaya | Esra Arslan Aksu | Burcu Özdemir | Levent Özdemir | Ahmet Cemal Pazarlı

Publisher: Duzce University

Main Topics: Chest Diseases

Journal: Duzce Medical Journal Vol.27 Issue 1, pp.69-74

Document Type: Article

Publication Date: 4/2025

Document Language: English

Document ID (Org No.): 2001338384

pISSN: 1307-671X

Pulmonary thrombo embolism

acquired risk factors

hereditary risk factorsPulmoner tromboemboli

edinilmiş risk faktörleri

kalıtsal risk faktörleri

Issues

Authors:

Savaş Gegin | Taner Karakaya | Esra Arslan Aksu | Burcu Özdemir | Levent Özdemir | Ahmet Cemal Pazarlı

Publisher:

Duzce University

Main Topics:

Chest Diseases

Journal:

Duzce Medical Journal Vol.27 Issue 1, pp.69-74

Document Type:

Article

Publication Date:

4/2025

Document Language:

English

Document ID (Org No.):

2001338384

pISSN:

1307-671X