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Home Information Medical stuff Information on liver diseases Progressive Familial Intrahepatic Cholestasis

Progressive Familial Intrahepatic Cholestasis

Progressive familial intrahepatic cholestasis (PFIC) is the name given to a group of inherited conditions causing cholestasis (reduced bile flow) in children and young people.

The bile flow is reduced either because the liver cannot make bile properly or because it cannot get it out of the liver cells into the bile ducts, or both. The bile ducts themselves may also be abnormal reducing the flow of bile through them.

Recent research has led to a better understanding of these conditions but the research is still continuing.

What are the possible effects of PFIC?

The type and severity of effects vary greatly – they may include:

  • Jaundice (yellowing of skin and whites of the eyes)
  • Discolouration of teeth
  • Darker urine
  • Pale, smelly, greasy stools, frequently loose (diarrhoea)
  • Failure to thrive
  • Vitamin deficiencies – especially the fat soluble vitamins A, D, E and K
  • Enlarged liver
  • Pruritus (itching)
  • Gall stones

Tests will be carried out to help make a diagnosis – you can find out more by downloading CLDF’s Routine Investigations guide.

Treatment options for PFIC

Dietary treatments will depend on the specific symptoms and characteristics of the individual. Medicine and/or surgical treatment can reduce the effects and complications of PFIC.

There are a number of medication options for treatment of PFIC. Further information on these options is available in CLDF's leaflet, available to download at the bottom of this page.

Surgical options

A number of operations have been tried in an attempt to reduce the effects of PFIC with varying degrees of success. The procedures below may not be appropriate in all cases, and your child’s medical team will assess their condition before any procedures are recommended.

Partial external biliary diversion: only suitable for those who have not developed cirrhosis. A short section of the bowel is used to make a channel for some of the bile to drain away. One end is attached to the gall bladder and the other is brought out through the skin to form an opening on the surface of the abdomen (stoma).

Internal ileal exclusion: a bypass is created around the distal ileum, which is the section of bowel where bile salts are usually reabsorbed.

Liver transplant: a major operation, with some risks but a successful transplant can restore good quality of life. Find out more about liver transplant.

Want to know more?

Download CLDF’s leaflet on progressive familial intrahepatic cholestasis.

You can also order a copy of the leaflet here.

Read stories from those affected by PFIC by clicking here.

The information on this site is for guidance only. It is not a substitute for professional medical care by a qualified doctor or other health care professional. ALWAYS check with your medical team if you have any concerns about your condition or treatment. CLDF is not responsible or liable, directly or indirectly, for any form of damages resulting from the use (or misuse) of information contained in or implied by the information on this site.