In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing 2020-Jan
Progressive Familial Intrahepatic Cholestasis (Byler Disease)
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Progressive familial intrahepatic cholestasis refers to a collection of rare genetic disorders due to defective mechanisms of bile secretion. Typically divided into three subtypes, PFIC type 1, PFIC type 2, PFIC type 3, the condition is usually diagnosed in the early years of life and often presents with signs and symptoms of intrahepatic cholestasis such as pruritis, dark urine, pale stool, loss of appetite, and fatigue.