When Being Overweight Masks the Diagnosis: Identifying Familial Hypercholesterolemia in Pediatric Patients

Familial hypercholesterolemia (FH) is a genetic disorder leading to elevated low-density lipoprotein cholesterol (LDL-C) from early life, significantly increasing the risk of premature atherosclerotic cardiovascular disease. Despite its prevalence, FH remains underdiagnosed, particularly in pediatric populations where obesity may obscure clinical suspicion. Here, we present two Georgian siblings diagnosed with heterozygous familial hypercholesterolemia (HeFH). The index patient, a nine-year-old boy, presented with overweight and elevated LDL-C that persisted despite weight loss. Evaluation of his brother, with a normal body mass index, and family members revealed similar lipid profiles, prompting the diagnosis of FH. Both siblings were started on atorvastatin 10 mg daily, resulting in significant LDL-C reduction without adverse effects. This case highlights the importance of distinguishing primary from secondary causes of dyslipidemia in children. The cumulative cholesterol burden from early life necessitates timely diagnosis and intervention. Obesity may mask FH, contributing to delays in recognition and management. Early clinical suspicion, comprehensive family screening, and timely initiation of statin therapy are essential for effective management of pediatric HeFH and the prevention of long-term cardiovascular complications.