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Monogenetic disorders of the cholesterol metabolism and premature cardiovascular disease

Marianne C van Schie1, Sjaam Jainandunsing1, Jeanine E Roeters van Lennep1

  • 1Department of Vascular Medicine, Erasmus Medical Centre, Rotterdam, The Netherlands.

European Journal of Pharmacology
|October 4, 2017
PubMed

Insights

Monogenetic cholesterol metabolism disorders cause early cardiovascular disease due to poor lipid profiles. Increased physician awareness is crucial for timely diagnosis and treatment.

Area of Science:

  • Biochemistry
  • Genetics
  • Cardiology

Background:

  • Cholesterol is essential for organism function.
  • Elevated serum cholesterol levels increase cardiovascular disease (CVD) risk.
  • Monogenetic disorders disrupt cholesterol metabolism, leading to adverse lipid profiles and premature CVD.

Purpose of the Study:

  • To review known monogenetic disorders of cholesterol metabolism.
  • To highlight their association with unfavorable lipid profiles and early-onset CVD.
  • To emphasize the need for increased physician awareness.

Main Methods:

  • Literature review of monogenetic cholesterol metabolism disorders.
  • Analysis of clinical presentations and associated cardiovascular risks.
  • Discussion of diagnostic challenges and treatment implications.

Main Results:

  • Monogenetic cholesterol disorders present with diverse clinical manifestations.
  • These disorders often lead to unfavorable lipid profiles from childhood.
  • Premature cardiovascular disease is a significant outcome.

Conclusions:

  • The frequency of these disorders is underestimated due to varied presentations.
  • Delayed or missed diagnoses result in suboptimal treatment and family counseling.
  • Enhanced physician awareness is essential for improved patient outcomes and genetic counseling.

Keywords:
Cholesterol metabolismFamilial hypercholesterolemiaHDL-CLDL-CMonogenetic disordersPremature cardiovascular disease

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