Progressive Familial Intrahepatic Cholestasis (PFIC)

Progressive Familial Intrahepatic Cholestasis

Overview

Progressive familial intrahepatic cholestasis (PFIC) is a group of congenital defects of bile secretion that causes progressive liver damage and leads to liver failure. PFIC is of 3 types – PFIC1, PFIC2 and PFIC3, each characterized by the deficiency of different proteins required for bile secretion.

Signs and symptoms

PFIC symptoms start in infancy. All 3 types of PFIC cause jaundice, severe itching, malnutrition, slowed growth, portal hypertension and an enlarged spleen. People with PFIC 1 may also experience deafness, diarrhoea, inflammation of the pancreas and have low levels of fat-soluble vitamins (A, D, E and K). PFIC 2 and 3 cause symptoms mainly related to liver disease, but they are more intense than in PFIC1. Liver failure often results within a few years.

Causes and risk factors

PFIC is caused by mutations in genes that manufacture a protein that controls bile secretion. This causes a build-up of bile acids in the liver cells, leading to liver inflammation, damage and liver function loss. The condition is inherited in an autosomal recessive pattern. Hence, both parents have a recessive copy of the gene, but show no symptoms themselves. This is more common in consanguineous marriages.

Complications

The bile trapped in the liver can cause progressive damage and cirrhosis. This could in turn, cause oesophageal varices, fluid in the belly, portal hypertension and an enlarged spleen. The risk of liver cancer and liver failure also increases.

Diagnosis

PFIC is diagnosed by testing for the genetic markers for the condition. The doctor will also require a panel of blood tests and a liver biopsy.

Treatment and Surgical Interventions

Initial treatment for PFIC involves drug therapies. If this is ineffective, a surgical approach may be adopted. In selected early cases of PFIC, a diversion of bile from the liver directly into the large colon can give good symptomatic relief from itching and improve liver injury. If the liver damage is severe, a liver transplant may be required.

Prevention

PFIC has a genetic cause and hence cannot be prevented. However, genetic screening of the parents to identify risk factors is possible.

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