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Familial heterozygous hypercholesterolemia: a case report.

Vyacheslav М Zhdan1, Yevdokiia М Kitura1, Maryna Yu Babanina1

  • 1Ukrainian Medical Stomatological Academy, Poltava, Ukraine.

Wiadomosci Lekarskie (Warsaw, Poland : 1960)
|June 9, 2019
PubMed
Summary

Familial heterozygous hypercholesterolemia (FHH) is a common genetic disorder often underdiagnosed by general practitioners. Early diagnosis and aggressive lipid-lowering therapy are crucial for managing FHH and preventing cardiovascular disease.

Keywords:
diagnosisfamilial hypercholesterolemiastatins

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Area of Science:

  • Genetics
  • Cardiology
  • Endocrinology

Background:

  • Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder.
  • It results from defects in the apolipoprotein B/E receptor gene.
  • FH predisposes patients to premature atherosclerosis and cardiovascular diseases, including coronary heart disease (CHD).

Observation:

  • This article reviews diagnostic criteria and management strategies for hereditary lipid metabolism disorders.
  • A case report of familial heterozygous hypercholesterolemia (FHH) is presented.
  • Literature data on FH diagnosis and treatment were analyzed.

Findings:

  • Familial heterozygous hypercholesterolemia (FHH) is a prevalent genetic disorder.
  • FHH is frequently underdiagnosed due to lack of awareness among practitioners.
  • Current diagnostic and management approaches are discussed.

Implications:

  • Early diagnosis of FHH is critical for timely intervention.
  • Aggressive hypolipidemic therapy is essential for patients with hereditary lipid disorders.
  • Increased awareness among general practitioners can improve FHH patient outcomes.