What is PFIC?
PFIC (Progressive Familial Intrahepatic Cholestasis) is a group of rare inherited liver diseases in which the flow of bile from the liver to the intestine is impaired. The cause is mutations in the genes that encode bile transporter proteins. As a result, bile builds up in the liver, causing cell damage, inflammation, and the gradual development of cirrhosis.
The disease usually appears in infants and young children. Several types are distinguished (PFIC 1–6), depending on the specific genetic defect. All of them are characterized by a progressive course and, without treatment, often lead to liver failure in childhood.
Symptoms usually appear in the first months or years of life:
Persistent itching (sometimes so severe that children scratch their skin until it bleeds)
Jaundice (yellowing of the skin and mucous membranes)
Pale, fatty stools and dark urine
Growth and developmental delay
Hepatomegaly and splenomegaly (enlarged liver and spleen)
Deficiency of fat-soluble vitamins (A, D, E, K), which may cause osteoporosis, bleeding, or vision problems
Yes. PFIC is inherited in an autosomal recessive manner. This means that both parents are symptomless carriers of the gene, and a child is affected only if they inherit defective copies from both.
Medication: ursodeoxycholic acid, drugs to reduce itching (cholestyramine, rifampicin, newer IBAT inhibitors such as maralixibat and odevixibat)
Supportive care: vitamin supplements, high-calorie diet, growth support
Surgical options: partial external biliary diversion (PEBD), which reduces itching and liver injury
Liver transplantation: indicated when cirrhosis or liver failure develops
Without treatment, PFIC often leads to severe complications in childhood, such as cirrhosis, portal hypertension, and liver failure. Children may die from these complications at an early age. Thanks to modern approaches (including liver transplantation and targeted medications), the outlook has improved significantly, and many children live active lives.
Clinical signs (jaundice, itching, growth delay)
Biochemical tests (elevated bilirubin, abnormal liver enzymes, low γ-GT in some types of PFIC)
Liver biopsy (shows cholestasis and fibrosis)
Genetic testing (the gold standard to confirm the specific type of PFIC)
Liver: cholestasis, cirrhosis, liver failure
Bones: osteoporosis due to vitamin D deficiency
Blood: bleeding tendency due to vitamin K deficiency
Nervous system and muscles: weakness, developmental delay due to vitamin E deficiency
Eyes: vision problems due to vitamin A deficiency
Currently, there is no treatment that corrects the genetic cause of PFIC. The only method that can completely resolve the disease in severe cases is liver transplantation. New medications (IBAT inhibitors) greatly improve quality of life but do not provide a complete cure.
Monitor your child’s diet and provide vitamin supplements as prescribed by the doctor
Watch for changes in skin color, stool, and behavior (itching, irritability)
Have regular blood tests and liver check-ups
Avoid medications that may be toxic to the liver
Remember: modern treatments (new medications and transplantation) allow children with PFIC to grow and develop
Every hryvnia you donate is a step towards health, a chance for treatment, and hope for a family.
SAVELIFEKIDS-UA helps children with severe liver diseases receive medical care, including transplants.
Together, we can do more.
Thank you for your support. 
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