Familial hypercholesterolemia

Saudi Med J. 2007 Apr;28(4):628-30.


Familial homozygous hypercholesterolemia is a rare autosomal disorder characterized by high levels of cholesterol, extensive tendon xanthomatosis and premature development of atherosclerotic disease. Early coronary artery disease with myocardial infarctions and sudden deaths are common. We reported a family of familial hypercholesterolemia from the Kashmir valley of the Indian subcontinent. The appearance and the severity of the cutaneous xanthomas was found to be age related suggesting a role for the duration of hypercholesterolemia in the development of xanthomatosis.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Cardiovascular Diseases / etiology
  • Family Health
  • Fatal Outcome
  • Humans
  • Hypercholesterolemia / complications
  • Hypercholesterolemia / diagnosis*
  • Hypercholesterolemia / genetics*
  • Male