Coronary heart disease mortality in severe vs. non-severe familial hypercholesterolaemia in the Simon Broome Register

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Steve E Humphries1, Jackie A Cooper1, Nigel Capps2

  • 1Centre for Cardiovascular Genetics, Institute of Cardiovascular Science, University College London, University Street, London, WC1E 6JJ, UK.

Atherosclerosis
|November 22, 2018
PubMed

Insights

Patients with severe familial hypercholesterolemia (SFH) face higher coronary heart disease (CHD) mortality. Aggressive lipid-lowering and risk factor management are crucial for SFH patients, even with treatment.

Area of Science:

  • Cardiovascular Medicine
  • Genetics
  • Public Health

Background:

  • Familial hypercholesterolemia (FH) is a genetic disorder causing high LDL-cholesterol and premature cardiovascular disease.
  • The International Atherosclerosis Society (IAS) defines severe FH (SFH) based on LDL-cholesterol levels and risk factors.
  • Early and aggressive lipid-lowering therapy, including PCSK9 inhibitors, is recommended for SFH patients.

Purpose of the Study:

  • To compare coronary heart disease (CHD) mortality in severe FH (SFH) versus non-SFH patients.
  • To evaluate the effectiveness of lipid-lowering treatments in reducing CHD mortality in SFH patients.
  • To assess the impact of traditional risk factors on CHD mortality in SFH patients.

Main Methods:

  • Prospective study of 2929 FH patients in the UK Simon Broome Register (1992-2016).
  • Categorization of patients into SFH and non-SFH groups based on IAS criteria.
  • Calculation of standardized mortality ratios (SMR) for CHD mortality and adjustment for traditional risk factors.

Main Results:

  • 67.7% of FH patients met the SFH definition.
  • SFH patients had higher baseline CHD prevalence, smoking rates, and BMI > 30 kg/m² compared to non-SFH.
  • The SMR for CHD mortality was significantly higher in SFH (220) versus non-SFH (144) patients.
  • Adjusted Hazard Ratio for CHD mortality in SFH vs. non-SFH was 1.22, indicating traditional risk factors largely explained the excess risk.

Conclusions:

  • CHD mortality remains elevated in treated FH patients, particularly those with SFH.
  • Optimal lipid-lowering therapy and management of traditional risk factors are essential for SFH patients.
  • Further research is needed to optimize treatment strategies for SFH to reduce cardiovascular risk.
Abstract

Keywords:
Coronary mortalitySevere heterozygous familial hypercholesterolemia

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