Progressive familial intrahepatic cholestasis is a disorder that causes progressive liver disease, which usually results in liver failure. In people with PFIC, liver cells are less able to produce a gastrointestinal fluid called bile. The buildup of bile in liver cells causes liver disease in affected individuals. In addition to signs and symptoms associated with liver disease, people with PFIC1 might have brief stature, deafness, looseness of the bowels, swelling of the pancreatic, and low levels of fat-soluble vitamins in the blood. The symptoms and signs of PFIC2 are generally associated with liver disease only; nevertheless, these signs and symptoms often tend to be more severe than those experienced by people with PFIC1. People with PFIC2 frequently develop liver failure within the first couple of years of life. The majority of people with PFIC3 have signs and symptoms associated with liver disease only. Liver failure can occur in youth or the adult years in people with PFIC3.
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