Role of Inherited Thrombophilia Risk Factors in Patients with CKD-5 Receiving Haemodialysis.

Background: The inherited thrombophilic mutations of the factor V gene (FVG1691A Leiden-FVL), prothrombin gene (PTG20210A), and the methylenetetrahydrofolate reductase gene C677T (MTHFR C677T) are risk factors for thromboembolic events and are related to the pathogenesis of vascular diseases.

Objectives: The main objective of this study was to explore the role of these factors in the pathogenesis of chronic kidney disease (CKD) and survival of patients with CKD-5 receiving haemodialysis.

Methods: A cohort of 395 patients with CKD-5 on haemodialysis, from 6 dialysis units in Crete, Greece were recruited based on their medical records and were followed for 5 years.

Genetic risk factors in young patients with ischemic colitis.

Background & Aims: Although ischemic colitis (IC) usually occurs in old people with concomitant illnesses, an increasing frequency of this disease among young people has been reported. Inherited risk factors have been suggested to play an important role in the pathogenesis of IC. The aim of this study was to investigate the prevalence and possible role of mutations associated with cardiovascular morbidity in young patients with IC.

Genetic risk factors in patients with inflammatory bowel disease and vascular complications: case-control study.

Background: Inherited risk factors have been suggested to play an important role in the pathogenesis of vascular complications of inflammatory bowel disease (IBD). The aim of the present study was to investigate the role of mutations associated with cardiovascular disease in IBD patients with or without vascular complications compared with thrombotic and healthy controls (HC).

Methods: Twelve polymorphisms of thrombophilic and vasoactive genes were evaluated in a group of 30 IBD patients with vascular complications (IBD-VC) compared with 60 IBD patients without vascular complications, 30 thrombotic controls (TC), and 54 healthy controls, using a commercially available kit.

Resistance to activated protein C, factor V leiden and the prothrombin G20210A variant in patients with colorectal cancer.

Objective: The aim of our study was to determine the frequency of resistance to activated protein C (APC), factor V Leiden (FVL) and the prothrombin G20210A variant in patients with colorectal cancer.

Methods: 74 patients with colorectal cancer and 192 colonoscopically selected controls were prospectively investigated for the presence of APC resistance, FVL and the prothrombin G20210A variant. APC resistance was measured as the ratio of activated partial thromboplastin times with and without APC (APC sensitivity ratio, APC-SR).