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Homozygous familial hypercholestrolaemia presents with supravalvular aortic stenosis

Sharoon Qaiser1, Sidrah Sheikh, Muhammad Shoaib Malik

  • 1Department of Internal Medicine, Sir Ganga Ram Hospital, FJMC, Lahore, Pakistan.

JPMA. the Journal of the Pakistan Medical Association
|July 5, 2012
PubMed

Insights

Homozygous Familial Hypercholesterolemia (HFH) typically causes early heart disease. This case highlights a rare presentation of HFH in a young patient with supravalvular aortic stenosis causing chest pain.

Area of Science:

  • Cardiology
  • Metabolic Disorders
  • Genetics

Background:

  • Homozygous Familial Hypercholesterolemia (HFH) is a severe genetic disorder characterized by extremely high levels of low-density lipoprotein cholesterol.
  • HFH commonly leads to premature atherosclerotic cardiovascular disease, including coronary artery disease and aortic root stenosis.

Observation:

  • A 17-year-old South Asian male presented with exertional chest pain, indicative of angina.
  • Diagnostic workup revealed supravalvular aortic stenosis as the cause of his symptoms.

Findings:

  • The patient was diagnosed with Homozygous Familial Hypercholesterolemia.
  • The supravalvular aortic stenosis represented a rare clinical manifestation of HFH, preceding more typical cardiac complications.

Implications:

  • This case underscores the importance of considering rare cardiovascular manifestations in HFH patients.
  • Early identification and management of atypical HFH presentations are crucial for preventing severe cardiac events.
  • Highlights the need for comprehensive cardiovascular assessment in young patients with suspected familial hypercholesterolemia.

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