Cardiovascular features of homozygous familial hypercholesterolemia: analysis of 16 patients

Am J Cardiol. 1984 Jul 1;54(1):20-30. doi: 10.1016/0002-9149(84)90298-4.


Familial hypercholesterolemia (FH) is characterized by an autosomal codominant inheritance, an abnormality in low-density lipoprotein (LDL) receptor function, elevated plasma cholesterol levels and premature atherosclerosis. Sixteen patients with homozygous FH were studied to correlate the extent of their atherosclerotic disease with their lipid levels and receptor function. The age range at initial presentation was 3 to 38 years (mean 12), and at the last examination, 6 to 43 years (mean 20). The mean pretreatment total plasma cholesterol concentration for all patients was 729 +/- 58 mg/dl (+/- standard error of the mean), and the mean LDL cholesterol level was 672 +/- 58 mg/dl (normal 60 to 176). High-density lipoprotein cholesterol was 28 +/- 3 mg/dl (normal 30 to 74). In the 7 patients with FH who had symptoms of myocardial ischemia (Group I), the mean pretreatment LDL cholesterol value (817 +/- 62 mg/dl) was higher than that of the 9 asymptomatic patients (Group II) (560 +/- 74 mg/dl). In Group I, 5 of 7 patients had left or right coronary ostial narrowing and 3 had significant left ventricular outflow obstruction. Most coronary arterial narrowing occurred in the right coronary and left anterior descending arteries and the least amount in the left circumflex coronary artery. A femoral bruit was the physical finding that correlated best with the Group I population; brother:sister pairs revealed a milder clinical course for the female. Seven of the 16 patients have survived into their third decade without symptoms. Comparison of these persons with those in whom angina developed reveals a marked heterogeneity in their clinical course, which appears to be associated with receptor negative/defective status.

MeSH terms

  • Adolescent
  • Adult
  • Arteriosclerosis / complications
  • Arteriosclerosis / pathology
  • Calcinosis / pathology
  • Cardiac Catheterization
  • Child
  • Child, Preschool
  • Cholesterol / blood
  • Coronary Angiography
  • Coronary Disease / complications*
  • Coronary Disease / diagnostic imaging
  • Coronary Disease / pathology
  • Coronary Disease / physiopathology
  • Coronary Vessels / pathology
  • Female
  • Homozygote*
  • Humans
  • Hyperlipoproteinemia Type II / complications*
  • Hyperlipoproteinemia Type II / pathology
  • Hyperlipoproteinemia Type II / physiopathology
  • Lipoproteins / blood
  • Male
  • Receptors, Cell Surface / blood
  • Receptors, LDL


  • Lipoproteins
  • Receptors, Cell Surface
  • Receptors, LDL
  • Cholesterol