Role of genetic testing for thrombophilia and deficiency of protein C, protein S, and Antithrombin III in patients with portal vein thrombosis: a prospective observational

Background and Aim: Hypercoagulable states are commonly seen in patients with chronic liver disease (CLD). Both inherited acquired thrombophilia significantly associated portal vein thrombosis (PVT). The study aimed to determine the role of genetic mutations protein C, S, AT III levels Indian population. Methods: Patients over 18 years either sex PVT were screened between July 2021 December 2022. A mutation for JAK2V617F, Calreticulin, Factor V Leiden was conducted. Protein measured. Results: 65 screened, 22 excluded. Finally, 43 non-tumoral without cirrhosis prospectively enrolled after imaging a mean age 46.9±3.5 years, 81% males. Of patients, 33 (76.7%) had cirrhosis, 10 (23.3%) non-cirrhotic. NASH found be most common etiology (33.3%) cirrhotic followed by alcohol (12%). In non-cirrhotic group, all EHPVO. total, 21(48.8%) type 3, 14(32.5%) 1, per Sarin’s classification. JAK2V617F (10%), Factor-V-Leiden (3%). CALR negative patients. deficiency C (48.8%), (44.1%) S (32.5%). Anticoagulant therapy administered both 5(50%) 11(33.3%) groups. Dabigatran used 9 (21%) Warfarin 3 (7%) At six months follow-up, 4(12.1%) deaths reported group. Conclusion: is not uncommon However, limited PVT. End-stage have low levels.