Meral EKİM, Zeynep Tuğba ÖZDEMiR, Yunus Keser YILMA, Hasan EKİM

DERİN VEN TROMBOZU OLAN YAŞLI HASTALARDA TROMBOFİLİK MUTASYONLARIN SIKLIĞI

Amaç: Derin ven trombozu (DVT) ileri yaşta predominant olan bir rahatsızlık olup, insidansı yaşla katlanarak artar. Kalıtsal ve edinsel risk faktörleri arasında etkileşim gerektiğinden patogenezinde birçok etkenin rolüvardır. Amacımız, hastanemize başvuran DVTli yaşlı hastalarda genetik mutasyonların sıklığını araştırmaktır.Gereç ve Yöntemler: Nisan 2013 ile Şubat 2015 tarihleri arasında DVT tanısıyla kliniğimize kabul edilen 25geriatrik hastada faktör V Leiden (FVL), protrombin gen mutasyonu (PT G20210A) ve metilentetrahidrofolatredüktaz (MTHFR) mutasyonları (C677T, A1298C) araştırıldı. Polimorfizm taranması SNaPshot® multipleks sistemi (Applied Biosystems A.Ş.) kullanılarak gerçekleştirildi. Ayrıca, antikoagülan tedavi ile ilgili biyokimyasalparametreler yakından takip edildi.Bulgular: Hastalarımızın yedisi kadın, 18i erkekti ve yaşları 65 ile 86 arasında değişmekte ortalama yaş da70.52±6.21 yıl idi. FVL mutasyonu 11 (%44) hastada (2 homozigot, heterozigot 9) ve heterozigot PT G20210Amutasyonu 1 (%4) hastada tespit edildi. MTHFR C677T mutasyonu 10 (%40) hastada (1 homozigot, 9 heterozigot) ve MTHFR A1298C mutasyonu 14 (%56) hastada (3 homozigot, 11 heterozigot) tespit edildi.Sonuç: DVT tanısı konulan geriatrik hastalarda kalıtsal mutasyonlar nadir değildir. Bundan dolayı, DVT tanısıalan her geriatrik hasta FVL, PT G20210A ve MTHFR mutasyonları için taranmalıdır. Ayrıca, coumadin kullananyaşlı hastalarda antikoagülasyon seviyelerindeki dalgalanmalar daha sık olduğundan biyokimyasal parametreler uygun tedaviyi sürdürmek ve olası komplikasyonlardan kaçınmak için daha sık aralıklarla izlenmelidir.

The Prevalence of Thrombophilic Mutations in Geriatric Patients With Deep Venous Thrombosis

Objective: Deep venous thrombosis (DVT) is predominantly disorder of older age and its incidence increasesexponentially with age. The pathogenesis of venous thrombosis is multifactorial and needs the interactionbetween hereditary and acquired risks factors. Our aim was to investigate the frequency of genetic mutationsin elderly patients with DVT admitted to our hospital Material and Methods: A total of 25 geriatric patients with DVT admitted to our clinic, between April 2013and February 2015 were investigated for factor V Leiden (FVL), prothrombin gene mutation (PT G20210A),and methylenetetrahydrofolate reductase (MTHFR) mutations (C677T, A1298C). Screening of polymorphismswas carried out by using SNaPshot® multiplex system (Applied Biosystems Inc.). Also, biochemical parametersrelated to anticoagulant therapy were monitored closely. Results: There were 18 male and 7 female patients ranging in age from 65 to 87 years, with a mean ageof 70.52±6.21 years. FVL mutation was found in 11 (44%) patients (2 homozygotes, 9 heterozygotes), therewas 1 (4%) patient with heterozygous PT G20210A mutation, MTHFR C677T was found in 10 (40%) patients(1 homozygote, 9 heterozygotes), and MTHFR A1298C was found in 14 (56%) patients (3 homozygotes, 11heterozygotes). Fluctuating levels of anticoagulation were observed in most geriatric patients. Conclusion: Inherited mutations among the geriatric patients with DVT are not rare. Therefore, we suggestthat every geriatric patient with DVT should be screened for the FVL, PT G20210A and MTHFR mutations. Alsoelderly patients taking coumadin are more likely to have fluctuating levels of anticoagulation, biochemicalparameters should be monitored at more frequent intervals to maintain appropriate treatment and to avoidpossible complications in geriatric patients.

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