Familial hypercholesterolemia--epidemiology, diagnosis, and screening

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Siddharth Singh1, Vera Bittner

  • 1Division of Cardiology, Department of Medicine, The University of California, San Francisco, San Francisco, CA, USA, Siddharth.singh@ucsf.edu.

Current Atherosclerosis Reports
|January 24, 2015
PubMed

Insights

Familial hypercholesterolemia (FH) is a common inherited metabolic disorder causing high LDL cholesterol. Genetic testing and cascade screening are key for diagnosing FH and managing affected families.

Area of Science:

  • Genetics
  • Metabolic Disorders
  • Cardiovascular Disease

Background:

  • Familial hypercholesterolemia (FH) is a prevalent inherited metabolic disorder.
  • It is characterized by significantly elevated low-density lipoprotein (LDL) cholesterol levels.
  • Mutations in LDL receptor, apolipoprotein B, PCSK9, and LDLRAP genes are associated with FH.

Purpose of the Study:

  • To review the genetic basis of Familial hypercholesterolemia.
  • To discuss diagnostic criteria and screening strategies for FH.
  • To highlight the importance of genetic testing and cascade screening in FH management.

Main Methods:

  • Review of existing literature on Familial hypercholesterolemia genetics and diagnosis.
  • Analysis of prevalence data for heterozygous and homozygous FH.
  • Discussion of established diagnostic criteria: MedPed, Simon Broome, and Dutch Lipid Clinic Network.

Main Results:

  • FH is a common inherited disorder with estimated heterozygous prevalence of 1 in 200 to 1 in 500.
  • Homozygous FH is rarer, with prevalence from 1 in 160,000 to 1 in 1,000,000.
  • Genetic mutations in specific genes lead to FH, with LDL receptor mutations being most common.

Conclusions:

  • FH diagnosis can be supported by established criteria like MedPed, Simon Broome, and Dutch Lipid Clinic Network.
  • Genetic testing plays a crucial role in identifying FH.
  • Cascade screening within families is essential for early detection and management of FH.

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