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High Lipoprotein(a) May Explain One-Quarter of Clinical Familial Hypercholesterolemia Diagnoses in Danish Lipid

Berit Storgaard Hedegaard1,2,3,4, Børge Grønne Nordestgaard1,4,5,6, Helle Lynge Kanstrup1,7

  • 1The Danish FH Study Group, Denmark.

The Journal of Clinical Endocrinology and Metabolism
|October 20, 2023
PubMed

Insights

Elevated lipoprotein(a) is common in familial hypercholesterolemia (FH) diagnoses. In 27% of FH cases, high lipoprotein(a) levels contributed to the diagnosis, highlighting its importance in FH assessment.

Area of Science:

  • Cardiovascular Medicine
  • Clinical Chemistry
  • Genetics

Background:

  • Cholesterol in lipoprotein(a) can inflate low-density lipoprotein cholesterol (LDL-C) measurements.
  • This inflation may lead to misdiagnoses of clinical familial hypercholesterolemia (FH).

Purpose of the Study:

  • To investigate plasma lipoprotein(a) levels in individuals referred to Danish lipid clinics.
  • To evaluate the impact of lipoprotein(a) on the diagnosis of FH.

Main Methods:

  • Recruited 1166 individuals suspected of FH at 15 Danish lipid clinics.
  • Classified FH using Dutch Lipid Clinical Network criteria before and after adjusting LDL-C for lipoprotein(a) cholesterol content.
  • Calculated the proportion of FH diagnoses influenced by elevated lipoprotein(a).

Main Results:

  • 206 out of 1166 individuals met the clinical diagnosis of FH.
  • Median lipoprotein(a) was 15 mg/dL; 28% had levels ≥50 mg/dL.
  • High lipoprotein(a) contributed to the FH diagnosis in 27% of affected individuals.

Conclusions:

  • Elevated lipoprotein(a) is prevalent in individuals referred for lipid assessment.
  • Lipoprotein(a) plays a significant role in approximately one-quarter of clinical FH diagnoses.
  • Measuring lipoprotein(a) is crucial for accurate FH diagnosis and cardiovascular risk stratification.
Abstract

Keywords:
Dutch Lipid Clinical Network scorefamilial hypercholesterolemialipid cliniclipoprotein(a)

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