Diagnosis and treatment strategies of thrombophilic risk factors

Abstract

Thrombophilia is defined as the general name for a group of genetic and acquired situations, arising from defects of hemostasis mechanism and generating tendency to thrombosis. Examples of the acquired risk factors that increase the tendency to thrombosis are venous catheters, sepsis, surgery, hyperlipidemia, congestive heart disease, increased lipoprotein a, old age, antiphospholipid syndrome, nephrotic syndrome, hyperviscosity, chronic myeloproliferative neoplasms, paroxysmal nocturnal hemoglobinuria, heparin induced thrombocytopenia, vasculitis, immobility, obesity, major surgery, trauma, burns, malignancy, pregnancy and oral contraceptive usage. Genetic tendency to venous thromboembolism in early ages, even without any known cause, is named as thrombophilia. Factor V Leiden, prothrombin G20210A, methylenetetrahydrofolate reductase gene mutations, factor VIII elevation, protein C, protein S and antithrombin deficiency parameters are suggested for evaluation, in patient groups suspected of inherited thrombophilia. Detection of inherited thrombophilic factors in selected patient groups is a guide in developing treatment strategies and in establishing prognosis. Due to the genetic heterogeneities, each society should determine their thrombophilic risk pool. Thus, with the determination of the risk factors, unnecessary assessments will be prevented and a cost-effective approach can be developed.

Keywords

• Thrombophilia, venous thromboembolism, Factor V Leiden gene mutation; Prothrombin G20210A gene mutation

Trombofilik risk faktörleri, takip ve tedavi stratejileri

Öz

Trombofili, hemostaz mekanizmalarındaki bozukluktan kaynaklanan ve tromboza eğilim oluşturan bir grup kalıtsal ve kazanılmış durumun genel adı olarak tanımlanmaktadır. Tromboza eğilimi artırdığı bilinen kazanılmış risk faktörleri olarak santral venöz kataterler, sepsis, cerrahi, hiperlipidemi, konjestif kalp hastalığı, artmış lipoprotein a, yaşlılık, antifosfolipid sendrom, nefrotik sendrom, hiperviskozite, kronik miyeloproliferatif neoplazmlar, paroksismal nokturnal hemoglobinüri, heparine bağlı trombositopeni, vaskülit, immobilite, obesite, büyük cerrahi girişim, travma, yanık, malignite, gebelik ve oral kontraseptif kullanımı sayılabilir. Genç yaşta bilinen bir neden olmaksızın venöz tromboemboliye genetik yatkınlık, kalıtsal trombofili olarak tanımlanmaktadır. Faktör V Leiden, protrombin G20210A, metilentetrahidrofolat redüktaz gen mutasyonları, faktör VIII yüksekliği, protein C, protein S and antitrombin eksikliği parametrelerinin kalıtsal trombofili düşünülen hasta gruplarında araştırılması önerilmektedir. Kalıtsal trombofilik etkenlerin seçilmiş hasta gruplarında saptanmaları tedavi stratejileri geliştirmede ve prognozda yol gösterici olmaktadır. Her toplum genetik heterojenite nedeni ile kendi trombofilik risk havuzunu belirlemelidir. Bu şekilde trombofilik risk faktörlerinin belirlenmesi gereksiz tetkik istenmesini engelleyecek ve maliyet-etkin bir yaklaşım geliştirilebilecektir..

Anahtar Kelimeler

• Trombofili, venöz tromboembolizm, Faktör V Leiden gen mutasyonu, Protrombin G20210A gen mutasyonu

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