Genetic disorders leading to severe hyperlipidemia in children: A case report

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.

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.

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.