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.