Turkiye Klinikleri Journal of Internal Medicine

.: ORIGINAL RESEARCH
Hereditary Thrombophilia Profile and Clinical Results of Our Eastern Black Sea Region Pulmonary Embolism Patients: Descriptive Research
Doğu Karadeniz Bölgesi Pulmoner Emboli Hastalarımızın Herediter Trombofili Profili ve Klinik Sonuçları: Tanımlayıcı Araştırma
Olcay AYÇİÇEKa , Kadir ÇOBANa , Mehtap PEHLİVANLAR KÜÇÜKb , Merve ÖZDOĞAN ALGINa , Mehmet SÖNMEZc , Funda ÖZTUNAa
aDepartment of Chest Diseases, Karadeniz Technical University Health Application and Research Center Farabi Hospital, Trabzon, Türkiye
bDepartment of Chest Diseases, Division of Intensive Care, Karadeniz Technical University Faculty of Medicine, Trabzon, Türkiye
cDepartment of Hematology, Karadeniz Technical University Faculty of Medicine, Trabzon, Türkiye
Turkiye Klinikleri J Intern Med. 2023;8(2):50-7
doi: 10.5336/intermed.2023-95575
Article Language: EN
Full Text
ABSTRACT
 Objective: The frequency and clinical implications of mutations causing hereditary thrombophilia are unclear. We aimed to investigate the frequency and clinical implications of gene mutations causing hereditary thrombophilia in patients with pulmonary embolism. Materials and Methods: The study included patients with pulmonary embolism who were investigated for hereditary thrombophilia. Data were collected retrospectively. Results: 107 (3.2%) of 3,340 patients with pulmonary embolism were found to have hereditary thrombophilia. Of the patients, 54 (50.5%) were female and 53 (49.5%) were male. MTHFR 677 was found in 37 (19.8%), factor V Leiden in 34 (18.2%), MTHFR1298 in 31 (16.6%), prothrombin 20210 in 13 (7.0%), AFAS in 12 (6.4%), AT III deficiency was present in 4 (2.1%), protein C resistance in 1 (0.5%), protein C deficiency in 1 (0.5%), and protein S deficiency in 1 (0.5%). The most common mutation was MTHFR 677 (22-33%) in women and factor V Leiden (22-32%) in men. MTHFR 677 was the most frequently observed mutation regardless of gender. The coexistence of pulmonary embolism and deep vein thrombosis (DVT) (34%), presence of acute DVT (31.3%), concomitant arterial thrombosis (30.6%), and recurrence of pulmonary embolism (25.6%) were higher in factor V Leiden deficiency than in other mutations. The highest heterozygosity rate was found in factor V Leiden. Conclusion: In our study, hereditary thrombophilia was detected in 3.2% of the pulmonary embolism patient population. The most common genetic mutations in our region are MTHFR 677 and factor V Leiden.

Keywords: Thrombophilia; pulmonary embolism; thrombosis
ÖZET
 Amaç: Herediter trombofiliye nedeni mutasyonların sıklığı ve klinik yansımaları net değildir. Pulmoner embolili hastalarda herediter trombofiliye neden olan gen mutasyonlarının sıklığı ve klinik yansımalarının araştırılması amaçlanmıştır. Gereç ve Yöntemler: Çalışmaya, herediter trombofili araştırılan pulmoner embolili hastalar dâhil edildi. Veriler retrospektif toplandı. Bulgular: 3.340 pulmoner embolili hastasının 107'sinde (%3,2) herediter trombofili saptandı. Hastaların 54'ü (%50,5) kadın, 53'ü (%49,5) erkekti. Hastaların 37'sinde (%19,8) MTHFR 677, 34'ünde (%18,2) faktör V Leiden, 31'inde (%16,6) MTHFR1298, 13'ünde (%7,0) protrombin 20210, 12'sinde (%6,4) AFAS, 4'ünde (%2,1) AT III eksikliği, 1'inde (%0,5) protein C rezistansı, 1'inde (%0,5) protein C eksikliği, 1'inde (%0,5) protein S eksikliği mevcuttu. Kadınlarda en sık gözlenen mutasyon MTHFR 677 (%22-33), erkeklerde faktör V Leiden (%22-32) idi. MTHFR 677 cinsiyet ayrımı yapılmaksızın en sık gözlenen mutasyondu. Faktör V Leiden eksikliğinde, pulmoner emboli ve derin ven trombozu (DVT) birlikteliğinin (%34), akut DVT varlığının (%31,3), eşlik eden arteriyel trombozun (%30,6), pulmoner emboli nüksünün (%25,6) diğer mutasyonlardan daha yüksek olduğu gözlendi. En yüksek heterozigotluk oranı faktör V Leiden'de bulundu. Sonuç: Çalışmamız ile pulmoner emboli hasta popülasyonununda herediter trombofili %3,2 oranında saptanmıştır. Bölgemizde en sık rastlanan genetik mutasyonlar MTHFR 677 ve faktör V Leiden'dir.

Anahtar Kelimeler: Trombofili; pulmoner emboli; tromboz
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