Hepatobiliary fibropolycystic diseases in Taiwan - A clinical study of 51 cases

The clinical data of 51 cases with hepatobiliary fibropolycystic diseases were analyzed and classified into four categories according to clinical features. There were 42 (82%) cases of polycystic liver, 7 (14%) cases of choledochal cyst, 1 (2%) case of Caroli's disease, and 1 (2%) case of the pure form of congenital hepatic fibrosis. Polycystic liver presented at 48.2 ± 13.6 years of age and slightly predominated in male subjects (59%). Fifty-seven percent of the cases were associated with polycystic kidneys, and the majority of the cases presented with epigastric fullness, flank pain, or gross hematuria. Choledochal cyst became clinically evident at 13.2 ± 19.8 years of age and was characterized by a female predominance (86%). Associated congenital hepatic fibrosis was observed in one of the cases. These patients usually presented with epigastralgia, jaundice, and a palpable mass. The only case of Caroli's disease, a 19-year-old woman, was also afflicted with congenital hepatic fibrosis and polycystic kidneys which precipitated the occurrence of acute bacterial nephritis. One of her brothers, the case of the pure form of congenital hepatic fibrosis, presented with acute cholangitis at the age of 12-year-old and has developed portal hypertension. Our study demonstrates that (1) various hepatobiliary fibropolycystic diseases present with different major symptoms and complications, (2) various forms of congenital malformations may be present in members within a family with congenital hepatic fibrosis, and (3) all types of hepatobiliary fibropolycystic diseases except choledochal cyst often coexist with polycystic kidneys.