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Abstract
Venous thrombosis is a multicausal disorder with multiple interactions between genetic and environmental risk factors. Thrombophilia or hypercoagulability may be congenital or acquired, some of the recently discovered genetic risk factors, such as FVL and prothrombin 20210A mutations, are quite common in the population. In this work we studied the incidence of genetic risk factors as FVL and 20210A mutations as well as acquired risk factor for thrombophilia as antiphospholipid antibodies (ACLa and LAC) in patients with DVT.
The study included 40 patients with deep venous thrombosis admitted to Zagazig University Hospitals with 20 healthy age matched controls.
The patients and controls were subjected to proper history taking including both family, thrombotic, abortion, pregnancy and history of taking anticoagulants.
- Routine laboratory investigations such as CBC, PT, PTT.
- APC-resistance assay.
- Anticardiolipin IgG and IgM by ELISA as well as lupus anticoagulant.
- PCR for factor V Leiden and prothrombin 20210A mutations.
Our results showed that 42.5% (17/40) of patients expressed APC- resistance compared to 15% ( 3/20) in controls and FVL mutation was present in 30% (12/40) of patients compared to 5% (1/20) in controls, all patients with FVL mutation expressed APC-resistance and one APC-resistance patient had also positive result for ACLa IgG and IgM. As for prothrombin 20210A mutation 7.5% (3/40) were heterozygous for FII mutation with no subjects in the controls having the mutation (0%).
Two cases gave positive results for ACLa IgG and one of them also had ACLa IgM and APC resistance. All patients and controls had no lupus anticoagulant.