hrp0086p1-p487 | Fat Metabolism and Obesity P1 | ESPE2016

Hypercholesterolemia in Childhood: How the Response to Diet could Lead to Diagnosis. Lesson from a Case-Report

Bruzzi Patrizia , Predieri Barbara , Filomena Madeo Simona , Rabacchi Claudio , Tarugi Patrizia , Calandra Sebastiano , Iughetti Lorenzo

Background: Sitosterolemia is a rare autosomal recessive disorder characterized by intestinal hyperabsorption and decreased biliary excretion of dietary plant sterol, due to mutations in adenosine-triphosphate (ATP)-binding-cassette (ABC) transporter family (ABCG8 and ABCG5).Case report: A 7.86 years old boy was referred to the Childhood Lipid Clinic due to incidental finding of hypercholesterolemia: total cholesterol 524 mg/dl (13.54 mmol/l), LDL-choles...