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Risk of Ischemic Stroke and Peripheral Arterial Disease in Heterozygous Familial Hypercholesterolemia: A

Leo E Akioyamen1,2, Jack V Tu1,2,3, Jacques Genest4,5

  • 11 Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.

Angiology
|March 16, 2019
PubMed

Insights

Heterozygous familial hypercholesterolemia (HeFH) significantly increases peripheral arterial disease (PAD) risk. While HeFH may not raise ischemic stroke risk, elevated LDL-C levels in HeFH patients show a modest association with stroke.

Area of Science:

  • Cardiovascular Science
  • Genetics
  • Epidemiology

Background:

  • Heterozygous familial hypercholesterolemia (HeFH) is a genetic disorder causing lifelong high LDL-C and coronary heart disease.
  • The association between HeFH and peripheral arterial disease (PAD) or ischemic stroke remains unclear.

Purpose of the Study:

  • To investigate the relationship between HeFH and the risk of PAD and ischemic stroke.
  • To conduct a systematic review and meta-analysis of existing studies.

Main Methods:

  • Searched major databases (MEDLINE, EMBASE, etc.) for relevant English-language studies.
  • Pooled maximally adjusted risk estimates using random- and fixed-effects meta-analysis.
  • Included 6 studies with 183,388 participants.

Main Results:

  • HeFH was linked to a higher risk of PAD (OR: 3.59).
  • This association persisted in sensitivity analyses of genetically defined HeFH (OR: 2.96).
  • Genetic HeFH showed no increased ischemic stroke risk (OR: 0.76), but LDL-C >4.9 mmol/L was associated with stroke risk (OR: 1.42).

Conclusions:

  • Clinical and genetic diagnoses of HeFH are associated with an increased risk of PAD.
  • Genetically confirmed HeFH may not increase ischemic stroke risk.
  • A modest association might exist between LDL-C levels and ischemic stroke risk in HeFH patients.

Keywords:
cerebral vascular diseasefamilial hypercholesterolemiameta-analysisperipheral artery diseasestrokesystematic review

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