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Familial hypercholesterolemia in the danish general population: prevalence, coronary artery disease, and

Marianne Benn1, Gerald F Watts, Anne Tybjaerg-Hansen

  • 1Chief Physician, Department of Clinical Biochemistry, Herlev Hospital, Copenhagen University Hospital, Herlev Ringvej 75, DK-2730 Herlev, Denmark.

The Journal of Clinical Endocrinology and Metabolism
|August 16, 2012
PubMed

Insights

Familial hypercholesterolemia (FH) affects 1 in 137 people, significantly increasing coronary artery disease risk. Many FH patients remain undiagnosed or undertreated, highlighting a critical public health issue.

Area of Science:

  • Cardiovascular Medicine
  • Genetics
  • Epidemiology

Background:

  • Familial hypercholesterolemia (FH) diagnosis relies on clinical criteria including personal/family history of premature cardiovascular disease and hypercholesterolemia, alongside genetic confirmation of low-density lipoprotein receptor (LDLR) or apolipoprotein B (APOB) gene mutations.
  • The Dutch Lipid Clinic Network criteria are a standard diagnostic tool for FH.

Purpose of the Study:

  • To determine the prevalence of FH in an unselected Danish population.
  • To investigate the association between FH and coronary artery disease (CAD).
  • To assess the use of cholesterol-lowering medication in individuals with FH.

Main Methods:

  • The Copenhagen General Population Study included 69,016 unselected, community-based participants.
  • FH was defined using the Dutch Lipid Clinic Network criteria (score > 5).
  • Coronary artery disease (CAD) was defined as myocardial infarction or angina pectoris.

Main Results:

  • The prevalence of definite/probable FH was 0.73% (1 in 137 individuals).
  • Twenty percent of FH participants had a pathogenic LDLR or APOB mutation.
  • FH was associated with a significantly elevated risk of CAD (OR 13.2 off medication, OR 10.3 on medication), even when treated.
  • Only 48% of FH individuals reported taking cholesterol-lowering medication.

Conclusions:

  • The prevalence of FH in the Danish general population is higher than previously estimated.
  • A substantial proportion of individuals with FH are undiagnosed or undertreated, leading to a high burden of CAD.
  • There is a critical need for improved community and primary care strategies for FH diagnosis and management.
Abstract

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