Progressive Familial Intrahepatic Cholestatsis (PFIC)

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:

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

Treatment options

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. Medicines given may include

Choestyramine

This combines with the bile acids in the small intestine and reduces reabsorption. Some side effects may be experienced, such as abdominal distension and constipation. The medicine may also bind with the fat soluble vitamins A, D, E and K, further decreasing their absorption.

Ursodeoxycholic Acid (URSO)

This is a substance which naturally occurs in bile, and works by increasing the proportion of watery bile salts, helping the bile to flow more easily.

Rifampicin

An antibiotic commonly used to treat tuberculosis, Rifampicin is used in patients with cholestatic liver disease and gives complete relief from pruritis in some patients and significantly reduces it in others.

Vitamin supplements

Especially A, D, E and K are usually given by mouth, but injections are sometimes needed.

Phenobarbitone, naltrexone and ondansetron are other medicines which have been used with varying degrees of itch reduction.

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 children who have not developed cirrhosis. A short section of the child’s 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 for 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 in CLDF’s ‘Liver Transplantation – an Overview’ leaflet, which you can download here.

Want to know more?

Download CLDF’s leaflet on PFIC here.