Toth - Figure 3 - Homozygous prevalence Text

Homozygous FH occurs with a frequency of approximately 1 in 1 million persons. Serum total cholesterol levels in these patients range from 650 to 1000 mg/dL. Clearly, in these persons both total and LDL cholesterol are severely elevated, with the result that these patients have a dramatic elevation in lifetime risk for developing coronary artery disease (CAD) as well as other forms of atherosclerotic disease. As a further clarification, patients can have homozygous FH because they inherit 2 copies of the same mutant allele, or may be classified as “compound homozygotes” due to the inheritance of 2 different mutant alleles.

Toth PP. J Clin Lipidol. 2011; 5(6).