Detecting familial hypercholesterolemia: The Jack and the Beanstalk principle

Abstract

We report the case of an 8-year-old girl who was fortuitously diagnosed with familial hypercholesterolemia (FH) while being investigated for obesity. She had a fasting total cholesterol of 11.8 mmol/L and a low-density lipoprotein cholesterol level of 10.3 mmol/L. Her mother and maternal grandmother both had a history of hypercholesterolemia and had developed extensive xanthelasma palpebrarum from early adult life. Reverse cascade testing of first-degree and second-degree relatives diagnosed a further 6 individuals with FH within the family. We discuss the benefits of diagnosing FH in childhood, for the individual and the wider family network ("the beanstalk") and present the rationale for implementing a universal screening program for FH in childhood.

Keywords: Adolescents; Children; Familial hypercholesterolemia; LDL cholesterol; Screening.