2023 Update on European Atherosclerosis Society Consensus Statement on Homozygous Familial Hypercholesterolaemia: new treatments and clinical guidance
Recommendations
As issued by the authors
Prioritise phenotypic features over genotype for the clinical diagnosis of homozygous familial hypercholesterolaemia (HoFH)
Low-density lipoprotein cholesterol (LDL-C) >10 mmol/L (>400 mg/dL) is suggestive of HoFH and warrants further evaluation
Therapeutic decisions are based on the LDL-C level
Combination LDL-C-lowering therapy (pharmacologic and lipoprotein apheresis) is foundational
Adding PCSK9 inhibitors, followed by evinacumab and/or lomitapide, offers potential to attain LDL-C goal or reduce the need for apheresis
Create national screening programmes, education to improve awareness, and management guidelines that account for local realities of care (access to specialist centres, treatments, cost)
Original publication
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