Progressive Familial Intrahepatic Cholestasis and its Subtypes: The First Report From Iran

Abstract

Background: Progressive familial intrahepatic cholestasis (PFIC) is a heterogeneous cholestatic disease (PFIC types 1, 2, and 3). Each type of the disease has different presentation, laboratory findings and prognosis. Up to now, there has been no report on the different types of this disease from Iran. Objectives: In this study, we have tried to uncover the frequencies and clinicopathologic presentations of three types of PFIC over four years (2010 - 2014) in Namazi hospital, which is affiliated with the Shiraz University of Medical Sciences and is the main hepatobiliary center in Southern Iran. Methods: During the above-mentioned four-year period, we studied 68 liver tissues taken from patients with a proven PFIC diagnosis, either in the form of a liver needle biopsy or explanted liver. Immunostaining was performed using three antibodies (ATP8B1, ABCB11, and ABCB4) on liver sections. Hematoxylin and eosin-stained sections were also reviewed. All of the demographics, clinical and paraclinical data were retrieved from the patients’ clinical charts. Results: Among these 68 PFIC cases, the most common type of PFIC in our center was found to be type 2 (50%), followed by type 1 (42.6%), with type 3 (7.4%) representing the least common. Pruritis and jaundice have been identified as the most common symptoms in all three groups; however, patients with PFIC type 3 showed older age with higher GGT levels. Conclusions: The two most common subtypes of PFIC in Iran are types 2 and 1, similar to some areas in the West. Immunostaining can accurately subclassify patients with PFIC.