Kalıtsal Trombofili ve COVID-19 İlişkisinin Retrospektif Olarak Araştırılması: Tek Merkez Deneyimi

Öz

Amaç: COVID-19, SARS-CoV-2'un neden olduğu, tüm sistemleri etkileyen ve en önemli etkisini trombofili yoluyla göstermekte olan yıkıcı bir pandemi durumudur. Bu çalışma ile kalıtsal trombofili yatkınlık genleri incelenmiş olan hastalarda; genotip ve COVID-19 fenotip ilişkisinin araştırılması amaçlandı. Gereç ve Yöntemler: Çalışmanın örneklemi, 2017-2021 yılları arasında, Dışkapı Yıldırım Beyazıt Eğitim ve Araştırma Hastanesi’nin Tıbbi Genetik Bölümü’nde kalıtsal trombofili yatkınlık genleri analiz edilmiş olan hastalardan seçilmiştir. Genetik analizi gerçekleşmiş ve COVID-19 COVID-19 teşhis edilen 66 hastanın genotip-fenotip ilişkisi araştırılmıştır. Bulgular: Hastalardan 2’sinde heterozigot protrombin (FII)-G20210A, 11’inde heterozigot Faktör V Leiden (FVL)-G1691A, 15’inde plazminojen aktivatör inhibitörü-1 (PAI) 4G/4G, 30’unda PAI 4G/5G, 2’sinde homozigot F13, 15’inde heterozigot F13, 23’ünde heterozigot Metilen tetrahidrofolat redüktaz (MTHFR) C677T (bunların 10’u birleşik heterozigot), 10’u homozigot MTHFR C677T, 24’ünde heterozigot MTHFR A1298C (bunların 10’u birleşik heterozigot), 10’u homozigot MTHFR A1298C genomik değişimleri saptandı. FVL heterozigotluk durumu ile tanı anında takipne ve hipotansiyon arasında anlamlı bir ilişki saptandı. Aktif sigara kullanıcısı olan ve geçmişte kullanmış olan vakaların, hiç sigara kullanmamış olanlara kıyasla anlamlı düzeyde lenfopenisi vardı. Ayrıca aktif sigara kullanıcılarında, sigara kullanmayanlara göre troponin düzeyleri de daha yüksek olarak saptandı. Sonuç: COVID-19 olgularında, kalıtsal trombofili genlerinin araştırılması farklı klinik bulguların açıklanmasında yardımcı olabilir. Bu çalışmadan elde edilen veriler, COVID-19 tanısı alan hastalarda, hastalığın klinik bulgularının, FVL heterozigotluk durumu ve sigara kullanımından önemli ölçüde etkilendiğini göstermiştir.

Anahtar Kelimeler

• COVID-19
• SARS-CoV-2
• kalıtsal trombofili
• genetik test
• sigara kullanımı

Retrospective Investigation of the Relationship between Hereditary Thrombophilia and COVID-19: A Single Center Experience

Öz

Objective: COVID-19 is a devastating pandemic caused by SARS-CoV-2, affecting all systems and showing its most important effect through thrombophilia. This study aimed to investigate the relationship between genotype and COVID-19 phenotype in patients whose hereditary thrombophilia susceptibility genes were examined. Material and Methods: The sample of the study was selected from patients whose hereditary thrombophilia susceptibility genes were analyzed at the Medical Genetics Department of S.B. Dışkapı Yıldırım Beyazıt Training and Research Hospital between 2017 and 2021. The genotype-phenotype relationship was investigated in 66 patients whose genetic analysis was performed and diagnosed with COVID-19. Results: Heterozygous prothrombin (FII)-G20210A in 2 patients, heterozygous Factor V Leiden (FVL)-G1691A in 11 patients, plasminogen activator inhibitor-1 (PAI) 4G/4G in 15 patients, PAI 4G/5G in 30 patients, 2 were homozygous F13, 15 were heterozygous F13, 23 were heterozygous Methylene tetrahydrofolate reductase (MTHFR) C677T (10 of them compound heterozygous), 10 were homozygous MTHFR C677T, 24 were heterozygous MTHFR A1298C (10 of them combined heterozygous), 10 of which were homozygous MTHFR A1298C genomic alterations were detected. A significant relationship was detected between FVL heterozygosity status and tachypnea and hypotension at diagnosis. Cases who were active smokers or had smoked in the past had significant lymphopenia compared to never-smokers. Additionally, troponin levels were found to be higher in active smokers compared to non-smokers. Conclusion: In COVID-19 cases, investigating hereditary thrombophilia genes may help explain clinical findings. Data from this study have shown that in patients diagnosed with COVID-19, the clinical presentation of the disease is significantly affected by the state of FVL heterozygosity and smoking.

Anahtar Kelimeler

• COVID-19
• SARS-CoV-2
• hereditary thrombophilia
• genetic testing
• smoking

Kaynakça

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