Management of Familial Hypercholesterolemia: Current Status and Future Perspectives

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David T W Lui1, Alan C H Lee1, Kathryn C B Tan1

  • 1Department of Medicine, University of Hong Kong, Queen Mary Hospital, Hong Kong, China.

Journal of the Endocrine Society
|April 30, 2021
PubMed

Insights

Familial hypercholesterolemia (FH) is a common genetic disorder causing early heart disease. Early diagnosis and treatment, including statins and newer agents, improve outcomes, but challenges in management persist.

Area of Science:

  • Cardiovascular Medicine
  • Genetics
  • Metabolic Disorders

Background:

  • Familial hypercholesterolemia (FH) is the most prevalent monogenic disorder, significantly increasing the risk of premature atherosclerotic cardiovascular disease.
  • Despite its high prevalence (approx. 1 in 200-250), FH remains underdiagnosed and undertreated globally.
  • Advances in understanding lipid metabolism have illuminated FH's molecular basis and spurred the development of novel therapeutic strategies.

Purpose of the Study:

  • To review current knowledge on the diagnosis, genetics, and management of Familial hypercholesterolemia.
  • To highlight recent advancements in lipid metabolism and therapeutic options for FH.
  • To discuss challenges in the optimal management of this common genetic disorder.

Main Methods:

  • A comprehensive literature search of the PubMed database up to March 2020.
  • Keywords included "familial hypercholesterolemia," "diagnosis," "management," "guideline," "consensus," "genetics," "screening," and "lipid lowering agents."
  • Review of diagnostic criteria, genetic testing availability, screening recommendations, and treatment strategies.

Main Results:

  • Established diagnostic criteria exist for FH, though genetic testing is not widely utilized.
  • Cascade screening is recommended for identifying affected relatives, underscoring the benefits of early intervention.
  • Statins with or without ezetimibe are primary treatments, with PCSK9 inhibitors offering further LDL cholesterol reduction at a higher cost. Lipoprotein apheresis is reserved for severe cases.

Conclusions:

  • Familial hypercholesterolemia is a common, treatable genetic condition with clear benefits from early diagnosis and intervention.
  • Current management focuses on achieving target low-density lipoprotein (LDL) cholesterol levels through various lipid-lowering therapies.
  • Despite improved understanding and treatment options, significant challenges remain in the global optimal management of FH.

Keywords:
LDL receptorcascade screeningfamilial hypercholesterolemiagenetic testing

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