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
“PFIC” is an umbrella term to refer to different types of familial intrahepatic cholestatic diseases. These include:
- FIC1 deficiency (ATP8B1 mutations, PFIC 1, BRIC 1)
- BSEP deficiency (ABCB11 mutations, PFIC 2, BRIC 2)
- MDR3 deficiency (ABCB4 mutations, PFIC 3, BRIC 3)
- TJP2 deficiency (TJP2 mutations, PFIC 4)
- FXR deficiency (NR1H4 mutations, PFIC 5)
- MYO5B deficiency (MY05B mutations)
- USP53 deficiency (USP53 mutations)
- MRP9 deficiency (ABCC12 mutations)
- LSR deficiency, types unknown
- new and emerging PFIC related disorders.
Although these diseases can have overlapping symptoms, they are each unique and can differ in their prognosis.
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.
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