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.
Henkjan Verkade practices practicing medicine in Groningen, Netherlands. Mr. Verkade is rated as an Elite expert by MediFind in the treatment of Progressive Familial Intrahepatic Cholestasis Type 1. He is also highly rated in 20 other conditions, according to our data. His clinical expertise encompasses Progressive Familial Intrahepatic Cholestasis Type 1, Cholestasis, Alagille Syndrome, Liver Transplant, and Hepato-Pancreato-Biliary Surgery.
Ulrich Baumann practices practicing medicine in Hannover, Germany. Mr. Baumann is rated as an Elite expert by MediFind in the treatment of Progressive Familial Intrahepatic Cholestasis Type 1. He is also highly rated in 23 other conditions, according to our data. His clinical expertise encompasses Progressive Familial Intrahepatic Cholestasis Type 1, Cholestasis, Biliary Atresia, Liver Transplant, and Bone Marrow Transplant.
Liver And Intestine Transplant At Pediatric Gastroenterology In Lawrenceville
James Squires is a Pediatric Gastroenterologist practicing medicine in Pittsburgh, Pennsylvania. 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 9 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.
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: This registry-based study will collect information from people with Progressive Familial Intrahepatic Cholestasis (PFIC) who take odevixibat (Bylvay) as part of routine clinical care in China. PFIC is a rare genetic liver disease that affects bile secretion and can cause bile acids to build up in the liver, which may lead to symptoms such as severe itching (pruritus). Odevixibat was first allowed ...
Published Date: August 13, 2026
Published By: National Institutes of Health