Progressive familial intrahepatic cholestasis (PFIC) is an inherited condition caused by genetic mutations in the ABCB11, ABCB4 and TJP2 genes. These mutations cause a dysfunction of the bile ducts, resulting in the accumulation of bile acids in the liver.
PFIC is typically diagnosed through a combination of physical exams, family history, and laboratory tests. These tests include liver biopsy, genetic testing, and special blood tests to measure bile acid levels.
Differential diagnosis of PFIC includes other bile duct disorders such as primary biliary cirrhosis, primary sclerosing cholangitis, and alpha-1 antitrypsin deficiency.
Treatment for PFIC includes medications to reduce bile acid levels, and surgical treatment may also be necessary to improve bile flow.
The prognosis for PFIC is variable and depends on the severity of the condition. In some cases, the condition can be managed with medications and lifestyle modifications, while in other cases, the condition can progress and lead to liver failure.