Progressive familial intrahepatic cholestasis: Partial biliary diversion normalizes serum lipids and improves growth in noncirrhotic patients

OBJECTIVES: Progressive familial intrahepatic cholestasis (PFIC) usually pr esents with pruritus, jaundice, hepatomegaly, and growth failure. A group o f PFIC is recognized by marked elevation of total serum bile acids, decreas ed serum apolipoprotein A-1, and high-density lipoprotein, but normal gamma -glutamyltranspeptidase and cholesterol. Although medical therapy generall y fails, partial external biliary diversion (DIV) has been used with promis ing results for cholestasis. However, little has been reported of its effec t on linear growth, synthetic Liver function, and lipid metabolism. METHODS: DIV was performed on six noncirrhotic children with PFIC, all suff ering from severe pruritus and cholestasis, refractory to medical treatment . Stature was below -1 (median, -2.3) standard deviation score (SDS) for he ight in all cases. All patients had markedly enhanced bile acids (307 +/- 7 2 mu ml/L), markedly decreased high-density lipoprotein (20 +/- 7 mg/dl), a nd apolipoprotein A-1 (58 +/- 37 mg/dl), but normal gamma -glutamyltranspep tidase and cholesterol. In addition, cholinesterase activity, monoethylglyc inexylidide test, and Fischer's ratio indicated a significantly reduced syn thetic liver function in all children but the youngest. RESULTS: After DIV, all patients were consistently relieved of pruritus, an d experienced normalization of all liver function tests, including cholines terase activity, monoethylglycinexylidide test, and Fischer's ratio, as wel l as the serum lipid profile within I yr. In addition, a marked catch-up gr owth (median, +1.3 SDS) was evident after 1 yr in all cases. CONCLUSIONS: This report shows an excellent result of DIV in noncirrhotic P FIC patients and compares favorably with other reports. All patients experi enced complete remission, including normalization of synthetic liver functi on and lipid metabolism. For the first time we have shown that DIV can also be associated with an accelerated growth in these patients. (C) 2000 by Am . Cell. of Gastroenterology.