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Homozygous familial hypercholesterolemia with generalized arterial disease

J P Selvan1, B Uthaman, L Abushaban

  • 1Department of Cardiology, Chest Diseases Hospital, Kuwait. jpselvan58@yahoo.com

Medical Principles and Practice : International Journal of the Kuwait University, Health Science Centre
|December 13, 2006
PubMed

Insights

Early diagnosis of homozygous familial hypercholesterolemia (hoFH) is crucial. This case highlights the severe arterial disease in an 11-year-old, emphasizing genetic counseling for families with heart disease.

Area of Science:

  • Cardiology
  • Genetics
  • Pediatrics

Background:

  • Familial hypercholesterolemia (FH) is a genetic disorder characterized by high LDL cholesterol levels.
  • Homozygous FH (hoFH) presents with severe, premature cardiovascular disease.
  • Early diagnosis and intervention are critical for managing hoFH.

Observation:

  • An 11-year-old boy presented with anginal episodes and xanthomas.
  • He had extremely high LDL cholesterol (24.6 mmol/l) and a family history of hypercholesterolemia.
  • Coronary angiography revealed severe stenosis in the left main coronary artery and extensive atherosclerotic disease.

Findings:

  • The patient exhibited advanced generalized arterial disease despite his young age.
  • Medical management included lipid-lowering drugs, antithrombotics, and anti-anginal medications.
  • Biochemical parameters, apart from lipids, were within normal limits.

Implications:

  • This case underscores the importance of early diagnosis of hoFH in families with a history of heart disease.
  • Genetic screening of partners of affected individuals is vital for risk assessment.
  • Prenatal and early postnatal counseling can mitigate the risk of hoFH in offspring.
Abstract

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