Background Progressive familial intrahepatic cholestasis (PFIC) is a rare inherited autosomal recessive disease where patients develop severe cholestasis progressing to biliary cirrhosis and chronic liver failure, usually during the first decade of life.

Aim To review the clinical presentation, familial involvement and outcome of patients with PFIC in Saudi Arabia.

Methods A retrospective study for patients who were diagnosed to be PFIC based on gene study between 2000–2013.

Results 48 patients were confirmed by gene test to have PFIC: 5/type 1, 27/type 2, and 16/type 3.

Consanguinity is seen in all patients (100%) and 31 patients (64%) having positive family history of liver diseases All PFIC type 1 patients presented with jaundice, poor growth, hepatomegaly, normal hearing and GGT. Diarrhoea in 4 patients (80%) Two patients (40%) underwent liver transplantation. Of the 27 patients with PFIC type 2, 24 patients (88%) with jaundice 22 patients (81%) and itching 3 patients (11%), hepatomegaly in 23 patients (85%), and 6 patients (22%) with signs of rickets. Biochemically three patients (11%) have high GGT on presentation and the rest of patients (88%) had normal GGT and normal cholesterol and 9 patients (33%) had coagulopathy (INR >1.3). Fifteen patients (55%) underwent liver transplantation; three patients (11%) died.

16 patients with PFIC type 3 presented after 2 years of age, 6 patients (37%) with only jaundice in 5 patients (31%) and 4 patients (25%) with only itching, hepatomegaly in 14 patients (93%) and one patient (6%) with signs of rickets. Biochemically one patient (6%) had normal GGT, and two patients (12%) had coagulopathy on presentation. One patient (6%) underwent liver transplantation.

Conclusion The vast majority of patients with PFIC type 1 and 2 present in the first two years and have normal GGT, while type 3 present after two years and have high GGT. However, GGT can be high in PFIC type 2 (11%) as it can be normal in PFIC type 3 (6%). One third of patients required liver transplant.