在约 30% 的 BCS 患者中观察到因子 V Leiden 突变。[18]Janssen HL, Meinardi JR, Vleggaar FP, et al. Factor V Leiden mutation, prothrombin gene mutation, and deficiencies in coagulation inhibitors associated with Budd-Chiari syndrome and portal vein thrombosis: results of a case-control study. Blood. 2000;96:2364-2368.http://www.bloodjournal.org/content/96/7/2364.fullhttp://www.ncbi.nlm.nih.gov/pubmed/11001884?tool=bestpractice.com
其他遗传性易栓疾病包括凝血酶原因子突变、亚甲基四氢叶酸还原酶突变、蛋白 C 和 S 缺乏及抗凝血酶 III 缺乏。[19]Denninger MH, Chaït Y, Casadevall N, et al. Cause of portal or hepatic venous thrombosis in adults: the role of multiple concurrent factors. Hepatology. 2000;31:587-591.http://www.ncbi.nlm.nih.gov/pubmed/10706547?tool=bestpractice.com[21]Mohanty D, Shetty S, Ghosh K, et al. Hereditary thrombophilia as a cause of Budd-Chiari syndrome: a study from western India. Hepatology. 2001;34:666-670.http://onlinelibrary.wiley.com/doi/10.1053/jhep.2001.27948/pdfhttp://www.ncbi.nlm.nih.gov/pubmed/11584361?tool=bestpractice.com
获得性易栓疾病包括抗磷脂综合征、阵发性睡眠性血红蛋白尿和 Behcet 综合征。