Progressive familial intrahepatic cholestasis (PFIC) is a disorder that causes progressive liver disease, which typically leads to liver failure. In people with PFIC, liver cells are less able to secrete a digestive fluid called bile. The buildup of bile in liver cells causes liver disease in affected individuals.
Mutations in the ATP8B1, ABCB11, and ABCB4 genes can cause PFIC.
PFIC is estimated to affect 1 in 50,000 to 100,000 people worldwide. PFIC type 1 is much more common in the Inuit population of Greenland and the Old Order Amish population of the United States.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Richard Thompson is in London, United Kingdom. Thompson is rated as an Elite expert by MediFind in the treatment of Progressive Familial Intrahepatic Cholestasis Type 1. He is also highly rated in 12 other conditions, according to our data. His top areas of expertise are Progressive Familial Intrahepatic Cholestasis Type 1, Cholestasis, Bile Duct Obstruction, and Biliary Atresia.
Irena Jankowska is in Warsaw, Poland. Jankowska is rated as an Elite expert by MediFind in the treatment of Progressive Familial Intrahepatic Cholestasis Type 1. She is also highly rated in 19 other conditions, according to our data. Her top areas of expertise are Progressive Familial Intrahepatic Cholestasis Type 1, Cholestasis, Bile Duct Obstruction, and Progressive Familial Intrahepatic Cholestasis Type 2.
Emmanuel Gonzales is in Orsay, France. Gonzales is rated as an Elite expert by MediFind in the treatment of Progressive Familial Intrahepatic Cholestasis Type 1. He is also highly rated in 11 other conditions, according to our data. His top areas of expertise are Cholestasis, Progressive Familial Intrahepatic Cholestasis Type 1, Progressive Familial Intrahepatic Cholestasis Type 2, and Bile Duct Obstruction.
Published Date:updated Last, December
Published By: National Institutes of Health