Progressive familial intrahepatic cholestasis (PFIC)

What happens in this disease?

Bile is a digestive fluid made in the liver. In this disease, liver cells cannot push bile out. Bile builds up in the liver and damages the cells. The damage may increase over time and the liver may harden (cirrhosis). There are more than ten types; each type may follow a different course.

Which symptoms can occur?

Symptoms usually begin in infancy or early childhood.

• Severe itching (common; it can disturb sleep and daily life)
• Yellowing of the skin and the whites of the eyes
• Not gaining weight and slow growth
• Dark urine
• An enlarged liver and spleen
• In some types, diarrhea, hearing loss or gallstones

How is it diagnosed?

Blood tests measure liver function and bile acid levels. A liver test called GGT helps to tell the types apart. A liver biopsy may be done. A genetic test confirms the diagnosis and the type.

Treatment and care

The aim is to reduce itching, support growth and protect the liver. A special diet and fat-soluble vitamin supplements are given. If needed, tube feeding is used. Medicines are used for itching. There are also approved treatments specifically for the disease. Operations that redirect bile help some children. If needed, a liver transplant is done. The doctor who follows the disease decides which treatment is suitable.

For the family: inheritance and genetic counselling

The disease is passed on through recessive inheritance. The mother and father are usually healthy carriers. For a carrier couple, the chance of an affected child in each pregnancy is 1 in 4. In marriages between relatives, the chance of carrying the same gene is higher; this is no one's fault. Some carriers may have a slightly higher risk of gallstones or itching during pregnancy. Genetic counselling guides the family.