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Familial hypercholesterolaemia presenting with coronary artery disease in a young patient

K S Subramani1, Vikram B Kolhari, C N Manjunath

  • 1Department of Cardiology, Sri Jayadeva Institute of Cardiovascular Sciences and Research, Bangalore, Karnataka, India.

BMJ Case Reports
|March 23, 2013
PubMed

Insights

A young man experienced angina due to severe coronary artery disease, linked to extremely high cholesterol levels. Early detection and treatment, including revascularization and lipid-lowering therapy, are crucial for managing this condition.

Area of Science:

  • Cardiology
  • Metabolic Disorders
  • Vascular Medicine

Background:

  • Premature cardiovascular disease can manifest with exertional and postprandial angina.
  • Genetic lipid disorders may present in young adults with severe atherosclerosis.

Observation:

  • Physical examination revealed carotid artery bruit and multiple tendon xanthomas.
  • The patient presented with symptoms of angina on exertion and after meals.

Findings:

  • Lipid profile indicated significantly elevated total cholesterol and low-density lipoprotein (LDL) cholesterol.
  • A positive treadmill test and coronary angiogram confirmed triple vessel disease.

Implications:

  • This case highlights the importance of investigating lipid profiles in young patients with cardiac symptoms.
  • Aggressive lipid-lowering therapy and revascularization are vital for managing severe, premature coronary artery disease.

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