Familial hypercholesterolaemia in children: diagnostic profile and factors influencing diagnosis in a tertiary referral centre

BACKGROUND: Early identification of familial hypercholesterolaemia is critical to prevent long-term cardiovascular complications. This study assessed diagnostic features and age at diagnosis in children with familial hypercholesterolaemia to identify factors influencing the diagnostic process and improve screening strategies. METHODS: A retrospective review was conducted on 129 paediatric patients with familial hypercholesterolaemia. Data on demographics, family history, clinical findings, lipid levels, and initial reasons for lipid testing were collected. RESULTS: Of 129 patients, 20.2% had homozygous and 79.8% had heterozygous familial hypercholesterolaemia. Diagnostic delay occurred in 82.9%, with a median of 6.8 years. The most common reason for lipid testing was incidental detection (29.5%), followed by clinical symptoms (23.2%). No significant association was found between testing reasons and age at diagnosis, diagnostic delay, duration of delay, or familial risk factors. Patients with parental hypercholesterolaemia had longer diagnostic delays (7.03 ± 3.54 vs. 4.18 ± 2.70 years, p = 0.016). No differences were observed in age at diagnosis or delay between patients with and without familial risk factors or clinical findings. CONCLUSION: The findings reveal significant diagnostic delays in paediatric familial hypercholesterolaemia, with most cases being diagnosed incidentally rather than through structured screening. There is a pressing need for systematic, context-specific screening strategies to improve early detection and reduce long-term cardiovascular risk.