%0 Journal Article
%T Thrombophilic Genetic Factors PAI-1, MTHFRC677T, V Leiden 506Q, and Prothrombin 20210A in Noncirrhotic Portal Vein Thrombosis and Budd-Chiari Syndrome in a Caucasian Population
%A Mario DĄŻAmico
%A Pietro Sammarco
%A Linda Pasta
%J International Journal of Vascular Medicine
%D 2013
%I Hindawi Publishing Corporation
%R 10.1155/2013/717480
%X Thrombophilic genetic factors PAI-1, MTHFRC677T, V Leiden 506Q, and Prothrombin 20210A were studied as risk factors in 235 Caucasian subjects: 85 patients with abdominal thrombosis (54 with portal vein thrombosis (PVT) and 31 with Budd-Chiari syndrome (BCS) without liver cirrhosis or hepatocellular carcinoma) and 150 blood bank donors. Seventy-five patients with PVT/BCS showed associated disease or particular clinical status (46 PVT/29 BCS): 37 myeloproliferative neoplasm (20 PVT/17 BCS), 12 abdominal surgery (10 PVT/2 BCS), 10 contraception or pregnancy (6 PVT/4 BCS), 7 abdominal acute disease (6 PVT/1 BCS), and 9 chronic disease (4 PVT/5 BCS); ten patients did not present any association (8 PVT/2 BCS). PAI-14G-4G, MTHFR677TT, and V Leiden 506Q were significantly frequent (OR 95% CI and test with value) in abdominal thrombosis; in these patients PAI-14G-4G and MTHFR677TT distributions deviated from that expected from a population in the Hardy-Weinberg equilibrium (PAI-1: , ; MTHFR677: , ), whereas the equilibrium was respected in healthy controls. V Leiden Q506 and Prothrombin 20210A were in the Hardy-Weinberg equilibrium both in patients with abdominal thrombosis and healthy controls. Our study shows an important role of PAI-14G-4G and MTHFR677TT in abdominal thrombosis without liver cirrhosis or hepatocellular carcinoma. 1. Introduction Thrombophilic genetic factors (THRGFs) such as PAI-1, MTHFR677, V Leiden 506Q, and Prothrombin 20210A mutations have been studied in patients with abdominal thrombosis, but never in the same study. We have recently published two studies on the prevalence of these THRGFs in liver cirrhosis and hepatocellular carcinoma: MTHFR677TT was highlighted as a significant risk factor for PVT in liver cirrhosis [1], but PAI-1 was not analyzed in the first study; in the second study [2] MTHFR677TT, PAI-1 4G-4G, and Prothrombin 20210A were found to be significant risk factors in hepatocellular carcinoma, mainly in the presence of portal vein thrombosis (PVT). It is well known that several chronic or acute diseases or some clinical status, other than cirrhosis or hepatocellular carcinoma, are considered risk factors for abdominal thrombosis, as recently reviewed by Parikh et al. [3] who found, underlying the etiology of PVT, two orders of causes classified in local (including all known diseases associated with PVT) and systemic (including congenital thrombophilia) orders. For these reasons we planned this prospective study, in which patients with abdominal thrombosis, without liver cirrhosis or hepatocellular carcinoma, were
%U http://www.hindawi.com/journals/ijvm/2013/717480/