Progressive Familial Intrahepatic Cholestasis Type 1Symptoms, Doctors, Treatments, Advances & More
Learn About Progressive Familial Intrahepatic Cholestasis Type 1
Progressive familial intrahepatic cholestasis (PFIC) is a broad term for a group of disorders that cause liver disease that worsens over time. Cholestasis is a condition that impairs the release of a digestive fluid called bile, which is made and released by the liver. In people with cholestasis, bile builds up in the liver, impairing its function and causing liver damage. Because the problems with bile release occur within the liver, the condition is described as intrahepatic.
Genetic changes that cause disease are called pathogenic variants. Pathogenic variants in more than 10 different genes can cause PFIC. Pathogenic variants in the ATP8B1, ABCB11, and ABCB4 genes cause the three most common forms of PFIC.
PFIC is estimated to affect 1 in 50,000 to 100,000 people.
PFIC is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell must have a pathogenic variant to cause the disorder. Usually, the parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition.
Liver And Intestine Transplant At Pediatric Gastroenterology In Lawrenceville
James E. Squires MD, MS, is a pediatric hepatologist and is certified in pediatric gastroenterology and advanced/transplant hepatology by the American Board of Pediatrics. He is an Associate Professor of Pediatrics and is the Associate Director of Hepatology and the Director of the Pediatric Transplant Hepatology Fellowship Program at the University of Pittsburgh School of Medicine. He received his medical degree from University of Texas and completed his residency followed by his fellowships in Pediatric Gastroenterology and Advanced/Transplant Hepatology at Cincinnati Children’s Hospital Medical Center. Dr. Squires is rated as an Elite provider by MediFind in the treatment of Progressive Familial Intrahepatic Cholestasis Type 1. He is also highly rated in 10 other conditions, according to our data. His clinical expertise encompasses Alagille Syndrome, Cholestasis, Progressive Familial Intrahepatic Cholestasis Type 1, Liver Transplant, and Gastrostomy. Dr. Squires is board certified in American Board Of Pediatrics and American Board Of Pediatrics. Dr. Squires is currently accepting new patients.
Penn Radiology DCR
Joel Berman is a Radiologist practicing medicine in Phoenixville, Pennsylvania. Dr. Berman is rated as a Distinguished provider by MediFind in the treatment of Progressive Familial Intrahepatic Cholestasis Type 1. He is also highly rated in 42 other conditions, according to our data. His clinical expertise encompasses Lung Nodules, Visceromegaly, Progressive Familial Intrahepatic Cholestasis Type 1, and Progressive Familial Intrahepatic Cholestasis Type 3. Dr. Berman is board certified in American Board Of Radiology.
Reading Hospital
Rahul Jasti is a Radiologist practicing medicine in West Reading, Pennsylvania. Dr. Jasti is rated as a Distinguished provider by MediFind in the treatment of Progressive Familial Intrahepatic Cholestasis Type 1. He is also highly rated in 10 other conditions, according to our data. His clinical expertise encompasses Progressive Familial Intrahepatic Cholestasis Type 3, Progressive Familial Intrahepatic Cholestasis Type 2, Progressive Familial Intrahepatic Cholestasis Type 1, and Ascites. Dr. Jasti is board certified in American Board Of Radiology.
Summary: In patients with Alagille syndrome (ALGS), the key objectives are to evaluate the tolerability, long-term safety (including possible liver toxicity) and long-term efficacy of Livmarli treatment. In patients with Progressive Familial Intrahepatic Cholestasis (PFIC), the key objectives are to evaluate tolerability, long-term safety (including possible liver toxicity and potential impact of chronic e...
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...
Published Date: August 13, 2026
Published By: National Institutes of Health