Familial hypercholesterolaemia: Experience of a tertiary paediatric lipid clinic

Area of Science:

• Pediatric Endocrinology
• Cardiovascular Genetics
• Clinical Lipidology

Background:

• Familial hypercholesterolemia (FH) is a genetic disorder leading to high LDL-C and premature cardiovascular disease.
• Early diagnosis and management in children are crucial for long-term cardiovascular health.
• Paediatric multidisciplinary lipid clinics offer specialized care for complex lipid disorders.

Purpose of the Study:

• To evaluate the management experience of a dedicated paediatric multidisciplinary lipid clinic for familial hypercholesterolemia (FH).
• To analyze patient demographics, clinical presentations, and outcomes of statin therapy in children with FH.
• To identify challenges and facilitators in managing paediatric FH.

Main Methods:

• Retrospective review of patients under 18 years old seen at an Australian tertiary paediatric hospital's lipid clinic (1999-2017).
• Data collected included demographics, family history, lipid profiles, age at treatment initiation, and treatment outcomes.
• Analysis of statin therapy efficacy, side effects, and reasons for non-initiation.

Main Results:

• 108 paediatric patients were evaluated; 85% had elevated LDL-C, and 75% had a family history indicative of FH.
• 32 patients were initiated on statin therapy, achieving significant LDL-C reductions (2.4 mmol/L in boys, 1.9 mmol/L in girls) at 12 months.
• Parental refusal and loss to follow-up were major barriers (77%) to initiating statin therapy in eligible patients.

Conclusions:

• Dedicated paediatric lipid clinics streamline FH management and monitoring.
• Clinical manifestations of FH are uncommon in children, suggesting severe disease when present.
• Statin therapy is effective and well-tolerated, but achieving treatment targets is challenging due to poor family engagement.