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Current causes of death in familial hypercholesterolemia

Victoria Marco-Benedí1,2,3, Ana M Bea1,3, Ana Cenarro3,4

  • 1Hospital Universitario Miguel Servet, IIS Aragón, CIBERCV, Zaragoza, Spain.

Lipids in Health and Disease
|August 2, 2022
PubMed

Insights

Familial hypercholesterolemia (FH) patients still have higher cardiovascular disease (CVD) mortality than others, though it occurs later now. Non-CVD mortality remains unchanged in FH individuals.

Area of Science:

  • Genetics and Molecular Biology
  • Cardiology
  • Epidemiology

Background:

  • Familial hypercholesterolemia (FH) is an autosomal codominant disorder marked by elevated low-density lipoprotein cholesterol (LDLc).
  • FH significantly increases the risk of premature cardiovascular disease (CVD).
  • Understanding current mortality causes in genetically defined heterozygous FH (heFH) is crucial.

Purpose of the Study:

  • To investigate the primary causes of death in individuals with genetically confirmed heterozygous familial hypercholesterolemia (heFH).
  • To compare mortality patterns between heFH patients and control groups.

Main Methods:

  • A case-control study analyzed lifelong mortality in heFH and control families.
  • Data collected via questionnaires and medical records from first-degree relatives.
  • Mortality compared among heFH, non-heFH, and nonconsanguineous individuals.

Main Results:

  • Cardiovascular disease (CVD) was the cause of death in 59.7% of heFH individuals, significantly higher than controls (37.7%).
  • The hazard ratio for CVD mortality was 2.85 times higher in heFH individuals compared to non-FH groups.
  • While CVD mortality is reduced compared to historical data, it remains elevated in heFH patients.

Conclusions:

  • Cardiovascular disease mortality in heFH patients, though occurring later than in the past, is still higher than in the general population.
  • The improved CVD prognosis in heFH is not linked to changes in non-CVD mortality.
  • These findings highlight the ongoing CVD risk in heFH despite advancements in lipid-lowering therapies.
Abstract

Keywords:
Cardiovascular disease deathHeterozygous familial hypercholesterolemia phenotypeParental-offspring

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