We aimed to describe the limitations of familiar hypercholesterolemia (FH) diagnosis in childhood based on the presence of the typical features of FH, such as physical sings of cholesterol accumulation and personal or family history of premature cardiovascular disease or hypercholesterolemia, comparing their prevalence in the adult and paediatric FH population, and to illustrate how additional information can lead to a more effective diagnosis of FH at a younger age.
Reference: Refinement of the diagnostic approach for the identification of children and adolescents affected by familial hypercholesterolemia: Evidence from the LIPIGEN study.
Casula M, Gazzotti M, Capra ME, Olmastroni E, Galimberti F, Catapano AL, Pederiva C; LIPIGEN Group and the LIPIGEN Paediatric Group. Atherosclerosis. 2023 Aug 12:117231.