Intrahepatic "cholestasis facies": is it specific for Alagille syndrome?

Abstract

In 1975 Alagille described in the English literature a syndromatic form of intrahepatic biliary hypoplasia associated with characteristic facial features (prominent forehead, deep-set eyes, mild hypertelorism, straight nose, and small pointed chin). To test the specificity of the facies for Alagille syndrome, close-up facial photographs of 15 children and young adults with various forms of intrahepatic cholestasis (including seven with Alagille syndrome) were examined by 13 pediatric hepatologists from the United States and Canada and by Dr. Alagille and eight of his co-workers from France, without knowledge of the individual diagnoses. Each examiner was asked to identify the patients with facies characteristic for Alagille syndrome. Fifty-one percent of the U.S./Canadian group's matchings and 49% of the French group's matchings of facies to underlying liver disease (presence or absence of Alagille syndrome) were incorrect. The sensitivity of the facies for diagnosing Alagille syndrome was 54% and 32%, the specificity 44% and 68%, and the predictive value 46% and 47% based on the U.S./Canadian and French groups, respectively. "Cholestasis facies" does not appear specific for Alagille syndrome; rather, it seems to be a general feature of congenital intrahepatic cholestatic liver disease.