The Disease


Progressive: tending to get worse over time

Familial: originally described in families and related to changes in genes

Intrahepatic: involves disease inside the liver

Cholestasis: means poor bile flow and build-up of substances in the liver that would normally be carried out of the liver into bile and then the intestines

Short Summary

Progressive Familial Intrahepatic Cholestasis (PFIC) is a general term that represents a group of rare genetic (inherited) disorders that cause a progressive (increasingly severe) liver disease and can lead to cirrhosis and end-stage liver disease. Often the hallmark feature of this disorder is severe and debilitating pruritus (itching). Keep reading to understand further about liver disease in children.

What is the Liver?

The Liver is the largest solid organ in the body. It plays an essential role in many different body functions, such as removing toxic substances from the blood, or producing proteins and biochemicals (bile) that are necessary for digestion and growth.

Liver Disease

The term “Liver Disease” is an umbrella for a number of conditions where the liver is injured and/or does not work as well as it should. “Cholestatic Liver Disease” means that one important function of the liver, namely the flow of bile from the liver to the intestines, is diminished. Click here to learn more.

What is bile?

Liver cells (“hepatocytes”) are responsible for making bile. Bile is a yellow fluid that contains a number of compounds including bile salts, phospholipids, cholesterol and waste products from the body.

What is a bile acid?

Bile acids are chemical made by the liver from cholesterol. In a healthy individual bile acids are transported from the liver to the intestines where they help to absorb fats, fat soluble vitamins and other fat-soluble nutrients. They are then circulated back to the liver such that they can be reused.

Signs of cholestatic liver disease in children

  • Jaundice (yellowing of skin or eyes)
  • Swollen abdomen
  • Dark yellow or brown urine
  • Pale/acholic stools (stools that are pale, grey or white in color)
  • Bleeding or easy bruising
  • Poor growth
  • Vitamin Deficiencies (A, D, E, K)
    • Vitamin A – can lead to problems with vision
    • Vitamin E – can lead to problems with balance, strength and coordination
    • Vitamin D – can lead to poor bone formation and an increased risk of broken bones
    • Vitamin K – can lead to bleeding problems, which can be very dangerous especially if the bleeding occurs in the brain

Read more about:

The Itch                Types of PFIC              Diagnosis and Treatment