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Homozygous Familial Hypercholesterolaemia

Information for
UK Healthcare Professionals

LDL-C reduction is the main goal of HoFH management1

12x higher risk of death in HoFH patients with elevated serum cholesterol levels2

The extent of reduction of serum cholesterol achieved by a therapy is a major determinant of survival in patients with HoFH2

In a retrospective study of 133 patients with HoFH, patients with an on-treatment serum cholesterol >15.1 mmol/L were at a 12x higher risk of death from a cardiac cause than those with serum cholesterol <8.1 mmol/L.*

  • Retrospective survey of lipid levels and clinical outcomes of HoFH patients treated with a combination of lipid-lowering measures between 1990 and 2014 in South Africa and the UK.

2023 ESC/EAS LDL-C Reduction Target Recommendations

Recommendations from the 2023 EAS Consensus Statement for LDL-C target level3

Children

< 3.0 mmol/L

Adults (>18 years old)

< 1.8 mmol/L

Adults with ASCVD or major ASCVD risk factors

< 1.4 mmol/L

ESC=European Society of Cardiology. EAS=European Atherosclerosis Society.

HoFH is typically managed with multiple treatment approaches

Lifestyle intervention, including3

  • Low-saturated-fat, low-cholesterol diet
  • Physical activity
  • Effective management of hypertension and diabetes
  • Smoking cessation

Pharmacologic treatments, plasmapheresis and, in rare circumstances for unresponsive patients, liver transplantation

ASCVD=atherosclerotic cardiovascular disease.

References

1. Brunham L et al. Can J Cardiol. 2018;35:1553-1563. 2. Thompson GR et al. Eur Heart J. 2018;39:1162-1168. 3. Cuchel M et al. Eur Heart J.
2023;44(25):2277-2291.