A study on etiological factors in splanchnic venous thrombosis using JAK-2 mutation

Abstract

Background: Splanchnic venous thrombosis is a rare disorder with multiple causes. The prevalence and cause of SVT vary in different parts of the world. Interaction between genetic and acquired risk factors is important in this disorder. Several conditions associated with hypercoagulability have been implicated in the causation of SVT. Aim and Objective: To study etiological factors in splanchnic venous thrombosis using JAK-2 mutation Methodology: This was a prospective study conducted in Department of Surgical Gastroenterology, Nizam’s Institute of Medical sciences, Hyderabad from January 2013 to June 2014. Diagnosed cases of Budd-Chairi syndrome (BCS), portal vein thrombosis (PVT) and mesenteric vein thrombosis (MVT) admitted or attended outpatient department were included. Eighty five patients were included in study group. They were divided in two sub groups. Group I constitute initial 60 cases those who underwent Protein C, Protein S, ATIII, Homocystien and APL antibody evaluation. About 65 percent of patients were found to have unknown aetiology. So increase the yield of diagnostic tests we added FVL mutation and JAK-2 V617F studies in next 25 cases on trail basis. Group II constitute of those 25 cases with mutational analysis. Results: The mean age group (in years) in study was 32.57 (13-75) years. Deficiencies of protein C activity were observed in 9 (15%) patients with splanchnic venous thrombosis. Protein C deficiency was most common etiological factor noticed in our study 16.25% (13/85). Further in subgroup analysis it was more common in MVT group 20.68% (6/29) compared to BCS and PVT group 14.28 and 10.71%. Protein S deficiency was seen in 11.76% (10/85) cases in our study group. PVT group had shown more incidence 14.28% (4/28) followed by MVT 13.79% (4/29) and BCS 7.14% (2/28). Antithrombin III deficiency was observed in 3 (10.71%) of 28 cases of Budd Chairi Syndrome, 2 (7.14%) of 28 cases of portal vein thrombosis and 2 (6.89%) of 29 cases of mesenteric vein thrombosis. After mutational analysis etiological factors were detected in 47.05% (40/85). Fifty three percent cases etiological factor was still not unknown. Conclusion: Protein C is most common etiological factor in our study. Protein S was second most common etiological factor in study group. It has multifactorial aetiology can be the result of a combined effect of different pathogenesis mechanisms. Jack 2 mutations is not common in Indian Population.