Progressive Familial Intrahepatic Cholestasis Type 1Symptoms, Doctors, Treatments, Advances & More
Progressive Familial Intrahepatic Cholestasis Type 1 Overview
Learn About Progressive Familial Intrahepatic Cholestasis Type 1
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.
Penn Radiology DCR
. Dr. Berman is rated as a Distinguished provider by MediFind in the treatment of Progressive Familial Intrahepatic Cholestasis Type 1. His top areas of expertise are Lung Nodules, Visceromegaly, Progressive Familial Intrahepatic Cholestasis Type 2, and Progressive Familial Intrahepatic Cholestasis Type 1.
Reading Hospital
. Dr. Jasti is rated as a Distinguished provider by MediFind in the treatment of Progressive Familial Intrahepatic Cholestasis Type 1. His top areas of expertise are Progressive Familial Intrahepatic Cholestasis Type 2, Progressive Familial Intrahepatic Cholestasis Type 3, Progressive Familial Intrahepatic Cholestasis Type 1, and Ascites.
Rayus/Foundation Radiology Group
. Dr. Blodgett is rated as a Distinguished provider by MediFind in the treatment of Progressive Familial Intrahepatic Cholestasis Type 1. His top areas of expertise are Non-Alcoholic Fatty Liver Disease, Visceromegaly, Diverticular Disease, and Emphysema.
Summary: This study will collect information from people with Progressive Familial Intrahepatic Cholestasis (PFIC) as they use odevixibat in their daily lives. Odevixibat is a medicine that helps people with PFIC, a type of rare disease that makes their liver not work well and causes itching and yellow skin. Odevixibat was first allowed to be used for PFIC in babies older than 6 months by the European Medi...
Summary: Progressive Familial Intrahepatic Cholestasis (PFIC) is a group of inherited conditions that affect how bile moves in the liver, which can lead to serious liver problems. Doctors usually recommend genetic testing for patients with unexplained bile issues-after ruling out more common causes-to better understand the problem. However, there isn't much information on how common these genetic changes a...
Published Date: December 01, 2009
Published By: National Institutes of Health