Fibrocystic Liver Disease

Fibrocystic liver disease (PLD) is a collective definition of a group of congenital and rare diseases affecting the biliary tree deriving from a perturbed development of the embryonic ductal plate, the primordial structure originating the intrahepatic bile ducts. Together with fibrocystic renal disease, they are often part of the multisystemic hepatorenal fibrocystic diseases (HRFCDs), in which dysgenesis of the biliary structures is associated with the fibrocystic malformation of the kidneys. Renal and hepatic involvement may coexist in various combinations and stage in the same subject, as a multisystemic disease likely underlined by common genetic mechanisms caused by defects in ciliary proteins. This multiorgan involvement requires a complex and multidisciplinary management, involving hepatologists, nephrologists, radiologists and surgeons. This chapter will focus on congenital hepatic fibrosis (CHF) and its association with autosomal recessive polycystic kidney disease (ARPDK) and biliary duct dilation (Caroli syndrome), including also Caroli disease (CD) and choledochal cysts (CCs). The spectrum of clinical manifestations is wide, varying from complete lack of symptoms to end-stage liver disease occurring in the first years of life. Cholangiocarcinoma may be a feared complication in some of these cases. Diagnosis is usually radiological, and magnetic resonance with cholangiopancreatography is pivotal for a correct categorization of the clinical subtypes. Treatment is essentially based on interventional radiology and surgical procedures, including liver transplantation in selected cases.