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Familial Hypercholesterolemia and Lipoprotein(a): A Gordian Knot in Cardiovascular Prevention

Amalia Despoina Koutsogianni1, Petros Spyridonas Adamidis1, Fotios Barkas2

  • 1Department of Internal Medicine, Faculty of Medicine, School of Health Sciences, University of Ioannina, 45110 Ioannina, Greece.

Metabolites
|November 10, 2022
PubMed

Insights

Familial hypercholesterolemia (FH) and elevated lipoprotein(a) (Lp(a)) are key genetic cardiovascular risk factors. This review explores their association and combined impact on atherosclerotic cardiovascular disease (ASCVD).

Area of Science:

  • Cardiology
  • Genetics
  • Metabolic Disorders

Background:

  • Familial hypercholesterolemia (FH) is a prevalent genetic disorder causing high LDL-C from childhood, leading to premature ASCVD.
  • Elevated lipoprotein(a) (Lp(a)) is a significant, genetically determined cardiovascular risk factor affecting ~20% of the population.
  • Both FH and elevated Lp(a) contribute to ASCVD risk, but their association and combined effects require further investigation.

Purpose of the Study:

  • To review current evidence on the pathophysiology, diagnosis, and treatment of FH and elevated Lp(a).
  • To focus on the association between FH and elevated Lp(a).
  • To evaluate the joint effect of FH and elevated Lp(a) on ASCVD risk.

Main Methods:

  • Narrative review of existing literature.
  • Analysis of epidemiological data on FH and Lp(a) prevalence.
  • Synthesis of evidence on diagnostic criteria and therapeutic strategies.

Main Results:

  • FH is underdiagnosed and undertreated despite available therapies.
  • Elevated Lp(a) is a common finding in FH patients, though the association is debated.
  • Lp(a) is a significant ASCVD risk factor, especially in the FH population.

Conclusions:

  • FH and elevated Lp(a) are critical, often co-existing, risk factors for ASCVD.
  • Understanding their interplay is crucial for effective risk management.
  • Novel Lp(a)-lowering therapies may offer new avenues for managing patients with FH and high Lp(a).

Keywords:
cardiovascular diseasecholesterolfamilial hypercholesterolemiahypolipidemic treatmentlipoprotein(a)

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