Key result
Hereditary genetic mutations were highly prevalent in patients with pulmonary thromboembolism lacking acquired risk factors, with heterozygous PAI 4G/5G (59.1%) and MTHFR A1298C (43.2%) being the most common.
Why the study?
To investigate the distribution of hereditary risk factors in pulmonary thromboembolism patients without acquired risk factors and explore their relationship with early mortality risk.
Observational (n=44)
No
There is a high prevalence of genetic mutations such as PAI 4G/5G and MTHFR A1298C in patients with pulmonary thromboembolism who lack acquired risk factors, particularly those under 50 years of age.
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.
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Gegin et al. (2025) conducted an observational in Pulmonary thromboembolism without identifiable acquired risk factors (n=44). Hereditary thrombophilia mutations was evaluated on Prevalence of hereditary risk factors. Hereditary genetic mutations were highly prevalent in patients with pulmonary thromboembolism lacking acquired risk factors, with heterozygous PAI 4G/5G (59.1%) and MTHFR A1298C (43.2%) being the most common.
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