Some patients may respond to medical therapy, but surgery is most often needed for survival.
Surgery methods used in children with PFIC includes liver transplant for cirrhosis and partial external biliary diversion (PEBD).
A liver transplant may be used if PEBD is not effective or if the patient has liver cirrhosis. It is the only effective treatment of high-GGT PFIC.
Most PFIC disorders progress to end-stage liver disease and require a liver transplant. Treatment focuses on minimizing growth failure and decreasing discomfort as the child waits for a liver transplant. Survival rates for liver transplant to treat PFIC are excellent.
Partial External Biliary Diversion (PEBD)
PEBD may be used as the first choice of treatment for patients who have not yet developed cirrhosis. This treatment helps reduce circulation of bile acids in the liver. This reduces problems and prevents the need for early transplant in many patients.
This surgery involves isolating part of intestine (10 cm long) for use as a biliary conduit (a channel for the passage of bile) from the rest of the intestine. One end of the conduit is attached to the gallbladder. The other end is brought out to the skin to form a stoma. A stoma is an opening made through surgery that allows waste to pass out of the body.
PEBP is used for patients who do not respond to all medical therapy, especially older, larger patients. This procedure may not be of help to young patients, such as infants. PEBP may decrease how intense the itching is and the abnormal, low levels of cholesterol in the blood.
Medicines to Treat Symptoms of Progressive Familial Intrahepatic Cholestasis
In most cases of PFIC, the biggest issue is pruritus (itching). This itching is caused by the buildup of bile in the blood and skin. Medicine may be used to relieve the severe itching and to improve bile flow.
Reduced bile flow can lead to problems digesting fat and vitamins from a child's diet. Fat-soluble vitamin supplements (A, D, E and K) may be used.