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Differences in phenotype, genotype and cardiovascular events between patients with probable and definite heterozygous

Ye-Xuan Cao1, Bing-Yang Zhou2, Di Sun1

  • 1Division of Dyslipidemia, State Key Laboratory of Cardiovascular Disease, Fu Wai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences, Peking Union Medical College, BeiLiShi Road 167, Beijing 100037, China.

Personalized Medicine
|November 7, 2019
PubMed

Insights

Definite heterozygous familial hypercholesterolemia (HeFH) patients exhibit more severe symptoms and genetic mutations than probable HeFH. This leads to a higher risk of cardiovascular events in definite HeFH cases.

Area of Science:

  • Cardiology
  • Genetics
  • Metabolic Disorders

Background:

  • Familial hypercholesterolemia (FH) is a genetic disorder characterized by high LDL cholesterol.
  • Distinguishing between probable and definite heterozygous FH (HeFH) is crucial for risk stratification.
  • The Dutch Lipid Clinic Network criteria are commonly used for FH diagnosis.

Purpose of the Study:

  • To investigate clinical, genetic, and cardiovascular differences between probable and definite HeFH patients.
  • To identify predictors for genetic mutations in HeFH.
  • To compare cardiovascular event rates in probable versus definite HeFH.

Main Methods:

  • Retrospective analysis of 325 patients diagnosed with probable or definite HeFH.
  • Comparison of clinical characteristics, lipid profiles (including LDL-C, oxidized-LDL, PCSK9), and tendon xanthomas.
  • Assessment of coronary artery stenosis severity (Gensini score) and genetic mutation incidence.
  • Kaplan-Meier analysis for cardiovascular event-free survival.

Main Results:

  • Definite HeFH patients (n=92) showed significantly higher LDL-C, oxidized-LDL, PCSK9, and prevalence of tendon xanthomas compared to probable HeFH (n=233).
  • Genetic mutation incidence and coronary artery stenosis severity were significantly higher in definite HeFH.
  • An LDL-C threshold of 5.14 mmol/l best predicted genetic mutations.
  • Definite HeFH patients had lower event-free survival rates.

Conclusions:

  • Definite HeFH represents a more severe phenotype and genotype compared to probable HeFH.
  • Patients with definite HeFH face an elevated risk of cardiovascular events.
  • Early identification and aggressive management of definite HeFH are essential.

Keywords:
Gensini scoreLDL-C thresholdcardiovascular eventsgene mutationheterozygous familial hypercholesterolemialow-density lipoprotein cholesterol

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