Some patients may respond to medical therapy, although surgical treatment is usually necessary for survival.
Surgical treatment used in children with progressive familial intrahepatic cholestasis includes liver transplantation for cirrhosis and partial external biliary diversion (PEBD).
Liver transplantation may be used if partial external biliary diversion is ineffective or if the patient has liver cirrhosis. It is the only effective treatment of high-GGT PFIC.
Most progressive familial intrahepatic cholestasis disorders progress to end-stage liver disease and require liver transplantation. Treatment focuses on minimizing growth failure and decreasing discomfort as the child awaits liver transplantation. Survival rates for liver transplantation to treat progressive familial intrahepatic cholestasis are excellent.
Partial External Biliary Diversion (PEBD)
Partial external biliary diversion may be used as the first choice of treatment for patients who have not yet developed cirrhosis. This treatment helps reduce the circulation of bile acids in the liver in order to reduce complications and prevent the need for early transplantation in many patients.
This surgical technique involves isolating a segment 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 and the other end is brought out to the skin to form a stoma (a surgically constructed opening to permit the passage of waste).
Partial external biliary diversion is used for patients who are unresponsive to all medical therapy, especially older, larger patients. This procedure may not be of help to young patients such as infants. Partial external biliary diversion may decrease the intensity of the itching and abnormally low levels of cholesterol in the blood.
Medications to Treat Symptoms of Progressive Familial Intrahepatic Cholestasis
In most cases of progressive familial intrahepatic cholestasis, the biggest issue is pruritus (itching). Medicine may be used to relieve the severe itching caused by a buildup of bile in the blood and skin and to improve bile flow.
Reduced bile flow can lead to difficulty digesting fat and vitamins from a child's diet. Fat-soluble vitamin supplements (A, D, E and K) may be used.