Abstract: Objective The aim of this study was to summarize the clinical features of patients with familial primary biliary cirrhosis (PBC). Methods The clinical manifestations, imaging features, pathological findings, and clinical outcomes of 17 patients with PBC were collected from 9 different pedigrees, and were summarized by retrospective analysis. Results Out of the 17 patients with PBC, 12 were females and 5 males with the mean age of 54.35±11.94 years at presentation; the common clinical manifestations included fatigue (64.7%) , itching (47.1%), jaundice (41.2%) and gastrointestinal bleeding (17.6%), with 5 (29.4%) diagnosed without any obvious manifestations; the laboratory tests showed the elevation of serum ALP and GGT levels (76.4%), and serum AMA/AMA-M2 positive in 88.2%; the 8 diagnosed patients with PBC were the first-degree relatives of 9 probands, and among them, sister-sister pairs (including a pair of twins) and sister-brother pairs were 37.5% respectively, father-daughter, and mother-daughter were 12.5%; the mean age was 57.75±10.38 years in the probands, older than 47.63±7.19 years in the relative patients; in probands, the clinical stage included asymptomatic patient in 1 (11.1%), symptomatic patient in 1 (11.1%) and decompensated cirrhosis in 7 (77.8%), while in the diagnosed relatives included preclinical stage in 1 (12.5%), asymptomatic in 2 (25%), symptomatic in 3 (37.5%) and decompensated cirrhosis in 2 (25.0%); except for 1 patient in preclinical stage, 16 patients with PBC were treated with ursodeoxycholic acid, and during follow-up of 5.2 years, 3 patients including a pair of twin sisters progressed to death of liver failure, including 2 probands and 1 diagnosed relative. Conclusion The patients with PBC have some tendency of family clustering, mainly involved the first-degree relatives of the probands, with the most frequent probability of sister-sister pairs and sister-brother pairs. Since the clinical features of patients with familial PBC are similar to scattered PBC, it is convenient to recognize them. The clinicians should pay high attention to the early screening of the relatives of probands with PBC and give them early treatment once diagnosed.

Key words: Primary biliary cirrhosis, Family clustering, Clinical features, Diagnosis, Prognosis