Progressive Familial Intrahepatic Cholestasis Type 2 Overview

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Learn About Progressive Familial Intrahepatic Cholestasis Type 2

What is the definition of Progressive Familial Intrahepatic Cholestasis Type 2?
Progressive familial intrahepatic cholestasis type 2 (PFIC2) is a rare condition that affects the liver. People with this condition generally develop signs and symptoms during infancy, which may include severe itching, jaundice, failure to thrive, portal hypertension (high blood pressure in the vein that provides blood to the liver) and hepatosplenomegaly (enlarged liver and spleen). Affected people also have an increased risk of developing hepatocellular carcinoma (a form of liver cancer). PFIC2 is caused by change in the ABCB11 gene and is inherited in an autosomal recessive manner.
What are the alternative names for Progressive Familial Intrahepatic Cholestasis Type 2?
  • Progressive familial intrahepatic cholestasis type 2
  • Benign recurrent intrahepatic cholestasis 2
  • PFIC2
  • Severe ABCB11 deficiency
  • BRIC2
  • Cholestasis, benign recurrent intrahepatic 2
  • Mild ABCB11 deficiency
  • Recurrent familial intrahepatic cholestasis 2
Who are the top Progressive Familial Intrahepatic Cholestasis Type 2 Local Doctors?
Gastroenterology
Gastroenterology

Associates In Gastroenterology

2940 N. Circle Drive, 
Colorado Springs, CO 
 22.6 mi
Offers Telehealth

Carl Swendsen is a Gastroenterologist in Colorado Springs, Colorado. Dr. Swendsen and is rated as an Experienced provider by MediFind in the treatment of Progressive Familial Intrahepatic Cholestasis Type 2. His top areas of expertise are Visceromegaly, Non-Alcoholic Fatty Liver Disease, Lower Esophageal Ring, Gastrectomy, and Endoscopy.

Radiology | Nuclear Medicine
Radiology | Nuclear Medicine

Uchealth Imaging Services LLC

5818 N Nevada Ave, 
Colorado Springs, CO 
 22.7 mi

James Walton is a Radiologist and a Nuclear Medicine provider in Colorado Springs, Colorado. Dr. Walton has been practicing medicine for over 14 years and is rated as an Advanced provider by MediFind in the treatment of Progressive Familial Intrahepatic Cholestasis Type 2. His top areas of expertise are Visceromegaly, Liposarcoma, Fibrosarcoma, Epithelioid Sarcoma, and Bone Marrow Aspiration.

 
 
 
 
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Radiology Associates Of Albuquerque PA

Colorado Springs, CO 
 16.2 mi

William Bufkin is a Radiologist in Colorado Springs, Colorado. Dr. Bufkin and is rated as an Experienced provider by MediFind in the treatment of Progressive Familial Intrahepatic Cholestasis Type 2. His top areas of expertise are Gallbladder Disease, Vertigo, Chronic Cough, and Diverticular Disease.

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Published Date: May 06, 2022
Published By: Genetic and Rare Diseases Informnation Center