Progressive familial intrahepatic cholestasis type 2 (PFIC2) 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 PFIC2 experience a buildup of bile acids in the liver, which can lead to liver damage, jaundice, and other symptoms. Treatment for PFIC2 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 2 (PFIC2) vary from person to person, but may include:

-Jaundice (yellowing of the skin and eyes)
-Dark urine
-Itchy skin
-Fatigue
-Abdominal pain
-Loss of appetite
-Weight loss
-Nausea and vomiting
-Diarrhea
-Enlarged liver
-Enlarged spleen
-Gallstones
-Ascites (fluid buildup in the abdomen)
-Fever
-Easy bruising or bleeding

Progressive familial intrahepatic cholestasis type 2 (PFIC2) is caused by mutations in the ABCB11 gene, which is responsible for the production of a protein called bile salt export pump (BSEP). This protein is responsible for transporting bile salts out of the liver. When the ABCB11 gene is mutated, the BSEP protein is not produced correctly, leading to a buildup of bile salts in the liver. This buildup can cause liver damage and other symptoms associated with PFIC2.

The main treatment for Progressive familial intrahepatic cholestasis type 2 (PFIC2) 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.

The risk factors for Progressive familial intrahepatic cholestasis type 2 (PFIC2) include:

1. Genetic predisposition: PFIC2 is caused by a mutation in the ABCB11 gene, which is inherited in an autosomal recessive pattern.

2. Ethnicity: PFIC2 is more common in certain ethnic groups, such as Ashkenazi Jews, French Canadians, and Finns.

3. Age: PFIC2 is most commonly diagnosed in infants and young children.

At this time, there is no cure for Progressive familial intrahepatic cholestasis type 2 (PFIC2). However, there are medications that can help manage the symptoms of PFIC2. 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.