Progressive familial intrahepatic cholestasis (PFIC) is a rare form of chronic cholestasis (defect in bile secretion or flow) that progresses very rapidly to a severe condition within the first decade of life. Symptoms of the condition include severe itching caused by the buildup of bile salts in the body, jaundice, poor weight gain, hepatosplenomegaly, nausea, vomiting, and the presence of gall stones. Three different forms of PIFC have been identified, each one caused by defects in different genes. Of these, both PIFC1 and PIFC2 are characterized by normal levels of serum GTT, and have milder symptoms compared to PIFC3.
PFIC1 is inherited in an autosomal recessive manner and is caused due to defects in the ATP8B1 gene.
Abbas et al. (2002) described the case of a 21-year-old woman with Byler disease that started during her childhood. She presented with acute cholecystitis and underwent laparoscopic cholecystectomy. At the time, this was the second patient with Byler disease to live beyond the second decade of life since the disorder was first described 40 years ago, and the first case associated with acute cholecystitis that was managed successfully by laparoscopic cholecystectomy.
Al-Lawati et al. (2009) undertook a retrospective study of all children with chronic liver disease seen at the only tertiary referral centre for hepatology in Oman in 2005 and 2006. Of the 79 patients identified with chronic liver disease in this period, 30% were diagnosed with PFIC. This was the most common liver disease identified. Interestingly, at least 50% of all patients included in the study had hereditary liver disorders.