GENETİK TROMBOFİLİ PANELİ BULGULARININ KLİNİK GÖSTERGELERLE UYUMUNUN RETROSPEKTİF ANALİZİ

Öz

Amaç: Bu çalışmada, kalıtsal trombofili ilişkili genetik risk faktörleri analiz edilmiş olan hastalarda genotip-fenotip ilişkisinin araştırılması amaçlanmıştır. Gereç ve Yöntemler: Genotip verileri ve tanı anı biyokimya, hemogram ve vitamin düzeylerini kapsayan ayrıntılı fenotip bulgularının tamamı, hasta kayıtlarından retrospektif olarak elde edilmiştir. Araştırılan gen varyantları; Faktör V Leiden (FVL), Faktör II G20210A, MTHFR C677T, MTHFR A1298C, PAI-1 4G/5G, Faktör XIII-V34L olup bunların tanımlanmasında gerçek zamanlı PCR tekniği kullanılmıştır. Bulgular: Çalışmaya dâhil edilen 100 hastadan 49’u serebrovasküler olay (SVO), 36’sı pulmoner emboli (PE), 15’i derin ven trombozu (DVT) tanılıydı ve tanı yaşı ortalamaları 46,81±0,98 (yıl) idi. Tanılarına göre FVL saptanma oranları; PE’de %36,11, DVT’de %33,33 ve SVO’da %16,32 ve F2 G20210A tespit edilme oranları ise; PE’de %8,3, DVT’de %6,66 ve SVO’da %6,12 olarak bulundu. Genotip ile tanı, tanı yaşı, cinsiyet ve tanı anı laboratuvar bulguları arasında anlamlı ilişki bulunamadı. Özgeçmiş hiperlipidemi durumu ile SVO tanısı ve MTHFR bileşik heterozigotluğu arasında anlamlı ilişki vardı (p=0,003; p=0,005, sırasıyla). SVO hastalarının, tanı anı B12 vitamini (VB12) ve D vitamini düzeyleri anlamlı düzeyde düşüktü (p=0,003; p=0,001, sırasıyla). Sonuç: Kalıtsal trombofiliye neden olan genetik mutasyonlar, DVT ve PE’de, SVO’ya göre daha yüksek yaygınlıkta gözlenmiş olsa da, genotip açısından hastalıklar arasında anlamlı bir fark bulunamamıştır. SVO tanılı hastalarda, VB12 ve D vitamini düzeylerinin düşük tespit edilmesi, prospektif ve çok sayıda hasta ile yapılacak çalışmalar açısından yol gösterici olabilir.

Anahtar Kelimeler

• Tromboembolizm
• trombofili
• serebrovasküler olay
• faktör V Leiden
• faktör II
• vitamin B12
• vitamin D

Retrospective Analysis of the Concordance of Genetic Thrombophilia Panel Findings with Clinical Indicators

Öz

Objective: This study aimed to investigate the genotypephenotype relationship in patients with analysed genetic risk factors associated with hereditary thrombophilia. Material and Methods: Genotype data and detailed phenotype findings, including biochemical, haematological and vitamin levels at the time of diagnosis, were obtained retrospectively from patient records. The gene variants investigated were Factor V Leiden (FVL), Factor II G20210A, MTHFR C677T, MTHFR A1298C, PAI-1 4G/5G, and Factor XIII-V34L, and real-time PCR technique was used to identify them. Results: Of the 100 patients included in the study, 49 were diagnosed with cerebrovascular event (CVE), 36 with pulmonary embolism (PE), and 15 with deep vein thrombosis (DVT) and the mean age at diagnosis was 46.81±0.98 (years). According to their diagnoses, FVL detection rates were 36.11% in PE, 33.33% in DVT, and 16.32% in CVE and F2 G20210A detection rates were 8.3% in PE, 6.66% in DVT, and 6.12% in CVE. No significant relationship was found between genotype and diagnosis, age at diagnosis, gender, and laboratory findings at diagnosis. There was a significant relationship between past hyperlipidemia status and CVE diagnosis (p=0.003) and MTHFR compound heterozygosity (p=0.003; p=0.005, respectively). CVE patients also had significantly lower vitamin B12 (VB12) and vitamin D levels at the time of diagnosis (p=0.003; p=0.001, respectively). Conclusion: Although genetic mutations causing hereditary thrombophilia have been observed to be more prevalent in DVT and PE than in CVE, no significant difference in genotype has been found between the diseases. The detection of low levels of VB12 and vitamin D in patients diagnosed with CVE may be indicative for prospective studies involving a large number of patients.

Anahtar Kelimeler

• Thromboembolism
• thrombophilia
• cerebrovascular event
• factor V Leiden
• factor II
• vitamin B12
• vitamin D

Kaynakça

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