Table of contents
Familial hypercholesterolemia
Guidelines
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
Diagnostic investigations
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.
B
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
Specific circumstances
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.
B