Table of Contents
ISRN Hepatology
Volume 2013, Article ID 763508, 7 pages
http://dx.doi.org/10.1155/2013/763508
Review Article

Familial Budd-Chiari Syndrome in China: A Systematic Review of the Literature

1Xijing Hospital of Digestive Diseases, Fourth Military Medical University, Xi’an 710032, China
2Department of Gastroenterology, No. 463 Hospital of Chinese PLA, Shenyang 710032, China

Received 11 January 2013; Accepted 4 February 2013

Academic Editors: A. Castiella and A. Nanashima

Copyright © 2013 Xingshun Qi et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

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.