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Homozygous Familial Hypercholesterolemia

Information for
Healthcare Professionals

LDL-C reduction is the main goal of HoFH management1

12.8x higher risk of cardiovascular 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 HoFH.2

In a retrospective study of 133 patients with HoFH, patients with an on-treatment serum cholesterol > 15.1 mmol/L were at a 12.8x higher risk of cardiovascular 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

< 1.4 mmol/L

HoFH is typically managed with multiple treatment approaches

Lifestyle intervention, including4

  • 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

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;00:1-15. 4. Cuchel M et al. Eur Heart J. 2014;35:2146–2157.