2023 Update on European Atherosclerosis Society Consensus Statement on Homozygous Familial Hypercholesterolaemia: new...

Area of Science:

• Cardiology
• Genetics
• Public Health

Background:

• Homozygous familial hypercholesterolaemia (HoFH) is a rare, severe genetic disorder.
• Existing clinical guidance requires updates to reflect genetic complexity and global care inequities.

Purpose of the Study:

• To provide updated clinical guidance for HoFH diagnosis and management.
• To address disparities in HoFH care globally.
• To offer pragmatic recommendations for clinicians and healthcare systems.

Main Methods:

• Review and synthesis of current scientific literature and clinical data.
• Development of updated diagnostic criteria, prioritizing phenotypic features.
• Formulation of evidence-based therapeutic recommendations, including novel agents.
• Consideration of global access to care, screening, and education.

Main Results:

• Updated clinical diagnostic criteria for HoFH, suggesting evaluation for LDL-C >10 mmol/L (>400 mg/dL).
• Guidance on interpreting genetic testing, family planning, and pregnancy in HoFH.
• Emphasis on combination LDL-C-lowering therapy (pharmacologic and lipoprotein apheresis).
• Integration of novel therapies (PCSK9 inhibitors, evinacumab, lomitapide) to optimize LDL-C reduction.
• Recommendations for national screening programs, education, and tailored management guidelines.

Conclusions:

• Early diagnosis and comprehensive management are crucial for improving cardiovascular health in HoFH patients.
• Addressing global inequities requires tailored guidelines, improved awareness, and access to specialist care and treatments.
• This updated guidance supports better, more equitable care for HoFH worldwide.