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Familial hypercholesterolemia: a family who suffered cerebral infarction over three successive generations

Yasutaka Kurokawa1, Masahiko Wanibuchi, Yoshihiro Maeda

  • 1Asahikawa Neurosurgical Hospital, Asahikawa, Japan.

Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association
|October 2, 2007
PubMed

Insights

Familial hypercholesterolemia (FH) can lead to cerebral infarction (CI) in successive generations, even without coronary heart disease history. Early monitoring of FH patients is crucial for preventing CI and other cardiovascular events.

Area of Science:

  • Neurology
  • Cardiology
  • Genetics

Background:

  • Familial hypercholesterolemia (FH) is a genetic disorder characterized by high cholesterol levels.
  • FH is typically associated with an increased risk of coronary heart disease (CHD).
  • Cerebral infarction (CI) is a less commonly reported complication of FH.

Purpose of the Study:

  • To report a unique family with FH experiencing CI across three successive generations.
  • To highlight the potential underestimation of CI risk in FH patients.
  • To emphasize the need for vigilant monitoring and risk stratification for CI in FH.

Main Methods:

  • Case series reporting on three affected family members.
  • Clinical evaluation including neurological assessment and serum cholesterol level measurement.
  • Review of medical history for cardiovascular risk factors and events.

Main Results:

  • Three generations of a single family presented with CI.
  • All affected individuals had markedly elevated serum cholesterol levels.
  • CI occurred in younger individuals in successive generations, without apparent CHD history.
  • Proposed CI mechanism involves arteriolar occlusion due to increased blood viscosity.

Conclusions:

  • FH patients, even without CHD, represent a high-risk group for CI.
  • CI may be more prevalent in FH than previously recognized.
  • Early detection and management of FH are critical for preventing both CHD and CI.

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