Abstract
BACKGROUND: Alagille syndrome is a rare autosomal dominant genetic disorder involving multiple organ systems. Its most common manifestations are chronic cholestasis caused by intrahepatic bile duct deficiency and severe hypercholesterolemia as a result of impaired cholesterol metabolism. This report describes a patient with Alagille syndrome in whom a JAG1 mutation was detected by whole-exome sequencing. CASE SUMMARY: The patient presented with severe hypercholesterolemia, biliary and hepatic impairment, pruritus, and triangular facial features. Mutations in the JAG1 gene, which encodes the Notch signaling pathway, were detected by whole-exome sequencing, leading to a diagnosis of Alagille syndrome. The patient was treated using a combination of traditional Chinese and Western medicines. Her cholesterol levels, liver function, and pruritus subsequently improved. CONCLUSION: The possibility of Alagille syndrome should be considered in children who present with abnormal liver function and severe hypercholesterolemia. Genetic testing is needed to screen for disease-causing mutations and the disease can be treated with Traditional Chinese medicine.