Progressive familial intrahepatic cholestasis (PIFC) is a group of autosomal recessive diseases. In PIFC, the liver can’t release the bile, although all bile ducts are patent. We need bile to get rid of toxins and digest fats. In PIFC, toxins accumulate in the liver, which leads to liver cell damage and other liver symptoms. There are three types of PIFC depending on the type of gene mutation. We can diagnose PIFC by a genetic test, Ultrasound, and liver biopsy. The treatment of PIFC is supportive, not curative. We can use medicines to relieve symptoms and surgery to reduce liver damage.
So, let’s discuss PIFC in more detail; we will answer the following questions:
- What are the causes of PIFC?
- What are the symptoms of PIFC?
- How can doctors diagnose PIFC?
- How can doctors treat PIFC?
Causes of progressive familial intrahepatic cholestasis
Genetic mutation is the direct cause of PIFC. There are three types of gene mutation; every gene has different action:
- Mutation of ATP81B gene cause PIFc1. This gene maintains bile acids at a healthy level in liver cells.
- Mutation of the ABCB11 gene cause PIFC2. This gene releases bile salt expose pump protein (BSEP) that removes bile salt from the liver.
- Mutation of the ABCB4 gene cause PIFC3. The function of this gene is to make phospholipids that bind to bile acid to decrease its toxicity.
Mutation of any of these genes leads to the accumulation of bile acids in the liver, which may cause liver damage.