Homozygous familial hypercholesterolemia is a rare genetic disorder characterized by extremely elevated low-density lipoprotein cholesterol from birth, leading to life-threatening atherosclerotic cardiovascular disease from childhood. Early recognition and appropriate management can significantly improve survival and long-term outcomes. Major progress has been achieved in recent years, including refined diagnostic criteria, systematic use of genetic testing, and the availability of novel lipid-lowering therapies such as PCSK9 inhibitors and ANGPTL3 inhibition, in addition to LDL apheresis. No updated guidelines for management during childhood is currently available.

These guidelines were developed by a French multidisciplinary panel of 20 experts in genetics, lipid disorders, pediatrics, and cardiology. Each section was prepared by a minimum of three experts. A comprehensive literature review was performed by each group and was supplemented by the experts’ own clinical expertise and experience.

Early identification, prompt referral to expert multidisciplinary teams, early detection of cardiovascular disease and aggressive lipid-lowering strategies are essential to improve outcomes.

Our state-of-the-art review include guidelines, based on current evidence and clinical expertise provides a practical framework for pediatricians involved in the care of children with suspected or confirmed homozygous familial hypercholesterolemia.