Progressive familial intrahepatic cholestasis type 3 (PFIC3) is a rare inherited disorder of the liver that affects the flow of bile from the liver. It is caused by a mutation in the ABCB11 gene, which is responsible for producing a protein that helps transport bile acids out of the liver. People with PFIC3 experience a buildup of bile acids in the liver, which can lead to liver damage, jaundice, and other symptoms. Treatment for PFIC3 typically involves medications to reduce bile acid levels, as well as dietary changes and supplements. In some cases, a liver transplant may be necessary.

The symptoms of Progressive familial intrahepatic cholestasis type 3 (PFIC3) vary from person to person, but may include:

-Jaundice (yellowing of the skin and eyes)
-Itching
-Dark urine
-Pale stools
-Abdominal pain
-Loss of appetite
-Weight loss
-Fatigue
-Nausea
-Vomiting
-Enlarged liver
-Enlarged spleen
-Gallstones
-Ascites (fluid buildup in the abdomen)
-Fever
-Rash

Progressive familial intrahepatic cholestasis type 3 (PFIC3) is a rare genetic disorder caused by mutations in the ABCB11 gene. This gene provides instructions for making a protein that helps transport bile acids out of the liver. Mutations in this gene lead to a buildup of bile acids in the liver, which can cause liver damage and other symptoms.

The main treatment for Progressive familial intrahepatic cholestasis type 3 (PFIC3) is a liver transplant. Other treatments may include medications to reduce itching, antibiotics to treat infections, and nutritional supplements to help with fat-soluble vitamin deficiencies. In some cases, a procedure called partial external biliary diversion may be used to reduce bile acid levels in the liver.

1. Genetic mutation: Progressive familial intrahepatic cholestasis type 3 is caused by a mutation in the ABCB11 gene.

2. Family history: Having a family history of PFIC3 increases the risk of developing the condition.

3. Age: PFIC3 is more common in infants and young children.

4. Gender: PFIC3 is more common in males than females.

5. Ethnicity: PFIC3 is more common in people of Ashkenazi Jewish descent.

At this time, there is no cure for Progressive familial intrahepatic cholestasis type 3 (PFIC3). However, there are medications that can help manage the symptoms of PFIC3. These medications include Ursodeoxycholic acid (UDCA), which helps reduce bile acid levels, and rifampicin, which helps reduce inflammation in the liver. Additionally, some patients may benefit from a liver transplant.