Familial occurrence of Budd-Chiari syndrome (BCS) has been reported in scattered cases, which potentially favors the congenital theory. A review of the literature was conducted to demonstrate this phenomenon in China. PubMed, VIP, and CNKI databases were searched for studies describing at least two Chinese BCS patients from the same one family. In the 18 eligible papers, 30 siblings or first-degree relatives from 14 families were diagnosed with BCS at 9 different centers. Common clinical presentations included varices of abdominal wall and lower limbs, edema of legs, and ascites. Type and location of obstruction were similar among these patients from the same one family. Screening for BCS was conducted in 65 family members from 3 families, demonstrating that 2 asymptomatic siblings from one family were further diagnosed with BCS. Factor V Leiden mutation was found in 3 of 4 patients from one family and in one of 2 patients from another one family. Prothrombin G20210A gene mutation was found in none of the 4 patients from the 2 families. In conclusion, our study showed the possibility of familial aggregation in Chinese BCS patients, but these available data cannot support the previous hypothesis that familial BCS originates from congenital vascular malformation. 1. Introduction Thrombotic risk factors for Budd-Chiari syndrome (BCS) have been clearly recognized in Western countries [1, 2]. Major causal factors include myeloproliferative neoplasm (MPN), factor V Leiden (FVL) mutation, prothrombin G20210A gene mutation, antiphospholipid antibodies, hyperhomocysteinemia, paroxysmal nocturnal hemoglobinuria, antithrombin (AT), protein C (PC), protein S (PS) deficiencies, and others [1, 2]. Several European cohort studies have demonstrated that at least one underlying thrombotic risk factor is found in more than 80% of Western BCS patients [3, 4]. Accordingly, the recent American Association for the Study of Liver Diseases (AASLD) practice guideline has recommended that routine screening for these risk factors should be performed in BCS patients [2]. By contrast, a recent systematic review and meta-analysis of observational studies did not confirm the role of inherited AT, PC, or PS deficiency in the pathogenesis of BCS [5]. Additionally, the prevalence of other thrombotic risk factors for BCS appears to be very low in Chinese patients [6, 7]. For example, JAK2V617F mutation, a critical diagnostic marker of MPN, exists in approximately 37% of Western BCS patients [8], but in only 4% of Chinese BCS patients [9]. Other studies have reported that FVL mutation,
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