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Venous thromboembolism and inherited thrombophilia
Venous thromboembolism and inherited thrombophilia
Erhan Atahan1, Erkan Çağlar2, Cihat Şarkış3, Serdal Uğurlu4
1Cumhuriyet Üniversitesi Tıp Fakültesi, Kalp ve Damar Cerrahisi Anabilim Dalı, Sivas
2Göztepe Eğitim ve Araştırma Hastanesi, Gastroenteroloji Kliniği, İstanbul
3Cumhuriyet Üniversitesi Tıp Fakültesi, İç Hastalıkları Anabilim Dalı, Gastroenteroloji Bilim Dalı, Sivas
4Fatih Sultan Mehmet Eğitim ve Araştırma Hastanesi, Romatoloji Kliniği, İstanbul
Inherited thrombophilia is a genetic tendency to venous
thromboembolism. Coagulation abnormalities are common
in the general population and therefore will present spontaneously
in some individuals. Patients with a family history
of thrombosis are at an increased risk for a mutation.
Factor V Leiden and the prothrombin, G20210A mutation
the commonest inherited risk factors for thrombosis, are
associated with an increased risk of venous thromboembolism.
These causes of thrombophilia increase the risk
of venous thromboembolism recurrence. Deficiencies in
protein C, protein S, and antithrombin-III account for
most of the remaining cases of thrombophilia. Inherited
thrombophilia should be suspected in patients with one or
more of the following clinical features: idiopathic thrombosis,
thrombosis at a young age, recurrent thrombosis,
and thrombosis at an unusual site. Reliable assays are now
available to test for the presence of the various causes of
inherited thrombophilia.
Keywords : Antithrombin III; blood coagulation disorders; factor V Leiden; inherited thrombophilia; protein C and S deficiency; venous thromboembolism
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