Progressive intrahepatic cholestasis (PFIC) is primarily a disease of the liver caused by the back up of bile (a digestive fluid). This build up can lead to long lasting liver damage which often gets worse over time eventually leading to liver failure.
PFIC typically begins in infancy or early childhood. There are three types of PFIC called PFIC1, PFIC2, and PFIC3. Symptoms of all three include itching, yellowing of the skin (jaundice), an enlarged liver and spleen, failure to grow or gain weight, and high blood pressure in the portal vein (a blood vessel to the liver). Along with these symptoms, PFIC1 may also involve deafness, short stature, diarrhea, and an inflamed pancreas. Symptoms of PFIC2 tend to be more severe than symptoms of the other types and usually develop liver failure within the first few years of life. PFIC3 typically occurs later than other types, and only involves liver disease symptoms.
PFIC is a genetic condition caused by mutations (changes) in the ATP8B1, ABCB11, and ABCB4 genes. We inherit our genes in pairs, one from each parent typically. PFIC is inherited in an autosomal recessive manner. Autosomal recessive means that an individual must have two copies of the changed gene or mutation that causes the condition. A person with one changed gene would be a carrier of the condition but usually will not have any symptoms. If both parents are carriers of the condition, each child has a one-in-four chance (25%) of having the disease.
PFIC is usually diagnosed by looking at clinical symptoms and by doing a biopsy (taking a cell sample of) the liver. Treatment often includes specific medications, nutritional therapy, and vitamin supplementation. If a family member has been diagnosed with progressive intrahepatic cholestasis, talk to your doctor about the most current treatment options. Support groups are also a good source of information.
Description Last Updated: Aug 29, 2018