Progressive Familial Intrahepatic Cholestasis

Also known as: PFIC.

What is progressive familial intrahepatic cholestasis?

Progressive familial intrahepatic cholestasis is one of many types of progressive liver diseases that ultimately lead to liver failure. The unique thing about progressive familial intrahepatic cholestasis is that, liver cells are less able to secrete a digestive fluid called bile. This buildup ultimately leads to many problems. It frequently begins in young infants.

What causes progressive familial intrahepatic cholestasis?

The disease is caused by genetic mutations. It’s also a hereditary condition that can be passed down from parents to their children.

What are the symptoms of progressive familial intrahepatic cholestasis?

Symptoms of progressive familial intrahepatic cholestasis can include jaundice (yellowing of the skin and eyes), itchy skin, fatigue, irritability, poor feeding, nausea, vomiting and failure to thrive.

What are progressive familial intrahepatic cholestasis care options?

Medications and supplements can help with the symptoms, but most children with progressive familial intrahepatic cholestasis will require surgery. Two procedures called partial cutaneous biliary diversion (PEBD) shunts the bile to a bag outside the skin or Partial internal biliary drainage (PIBD) is another technique that  connects  the gallbladder to colon. If unsuccessful a liver transplant is required.

Reviewed by: Shifra A Koyfman, MD

This page was last updated on: March 20, 2019 04:07 PM