Table of contents

Familial hypercholesterolemia


Key sources

The following summarized guidelines for the evaluation and management of familial hypercholesterolemia are prepared by our editorial team based on guidelines from the Canadian Pediatric Cardiology Association (CPCA/CCS 2022), the Canadian Cardiovascular Society (CCS 2021,2018), the European Society of Cardiology (ESC/EAS 2020), and the American College of Preventive Medicine (ACPM/ADA/PCNA/ABC/ASPC/AAPA/AGS/AHA/ACC/APhA 2019). ...
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Screening and diagnosis

Indications for screening: as per CCS/CPCA 2022 guidelines, obtain universal lipid screening (fasting or nonfasting, non-HDL-C or LDL-C) within the first decade of life (after 2 years old), coupled with cascade screening for identified cases of probable/definite familial hypercholesterolemia or other monogenic lipid disorders. Consider obtaining selective screening at any time in pediatric patients with identified cardiovascular risk factors or risk conditions or a positive family history of premature CVD or dyslipidemia.
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  • Screening of family relatives

  • Diagnosis

Classification and risk stratification

CVD risk stratification: as per CCS 2018 guidelines, do not use current risk calculators (Framingham Risk Score, Pooled Cohort Equation, European SCORE) to determine cardiovascular risk in patients with familial hypercholesterolemia.
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Diagnostic investigations

Genetic testing: as per CCS/CPCA 2022 guidelines, consider obtaining genetic testing, when accessible, to achieve definitive diagnoses of familial hypercholesterolemia or other genetic dyslipidemias.

Medical management

General principles
As per CCS 2018 guidelines:
Institute a personalized treatment plan taking into account at a minimum age, additional cardiovascular risk factors, psychosocial and socioeconomic factors, and personal and family preferences, developed as a shared decision process as the diagnosis of familial hypercholesterolemia using validated clinical criteria and/or genotyping may occur at any age and imparts a high, lifelong risk of ASCVD.
Include statins as the primary therapy and secondary agents as required including ezetimibe and PCSK9 inhibitors in a personalized treatment plan in patients with familial hypercholesterolemia requiring medications.

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  • Treatment targets

  • Statins

  • Ezetimibe

  • PCSK9 inhibitors

  • Bile acid sequestrants

  • MTP inhibitors

Nonpharmacologic interventions

Lifestyle modifications: as per EAS/ESC 2020 guidelines, educate pediatric patients with familial hypercholesterolemia to adopt a proper diet.

Specific circumstances

Pediatric patients: as per CCS 2018 guidelines, consider initiating statin therapy usually between 8-10 years of age if LDL-C remains ≥ 4.9 mmol/L or ≥ 4.1 mmol/L with a family history of premature ASCVD or other cardiovascular risk factors or risk conditions.

Follow-up and surveillance

Indications for referral: as per CCS 2018 guidelines, refer patients with homozygous familial hypercholesterolemia to a specialized lipid clinic. Obtain complete evaluation for genetic analysis, presence of ASCVD and initiate aggressive lipid-lowering therapies, including consideration for extracorporeal LDL-C removal, lomitapide, and PCSK9 inhibitors.