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). PFIC2 generally progresses to liver failure in the first few years of life. Affected people also have an increased risk of developing hepatocellular carcinoma (a form of liver cancer). PFIC2 is caused by change (mutations) in the ABCB11 gene and is inherited in an autosomal recessive manner. Treatment may include ursodeoxycholic acid therapy to prevent liver damage, surgery and/or liver transplantation.

What are the alternative names for Progressive Familial Intrahepatic Cholestasis Type 2?

  • PFIC2
  • Severe ABCB11 deficiency
  • Condition: Intrahepatic cholestasis
  • Journal: BMJ case reports
  • Treatment Used: Odevixibat and invasive partial external biliary diversion
  • Number of Patients: 1
  • Published —
The study compared the use between odevixibat and invasive partial external biliary diversion for patients with intrahepatic cholestasis.
  • Condition: Alagille Syndrome and Progressive Familial Intrahepatic Cholestasis (PFIC)
  • Journal: Journal of pediatric surgery
  • Treatment Used: Surgical Intervention
  • Number of Patients: 37
  • Published —
This study tested the safety and efficacy of using a surgical intervention such as liver transplant or biliary diversion to treat patients with Alagille syndrome and PFIC.

There are no recent clinical trials available for this condition. Please check back because new trials are being conducted frequently.