In conclusion, FH is associated with significantly elevated serum LDL cholesterol levels and increased risk for CAD. This escalated risk for CAD is proportional to the magnitude of lifetime elevation in LDL cholesterol, and on average in patients with FH, the risk for premature CAD is approximately 20-fold higher compared to patients without FH.
There are multiple etiologies for the phenotype of FH, the most common being a mutation in the gene for the LDL receptor; indeed, this is one of, if not the most commonly encountered metabolic disorders, with a worldwide incidence of approximately 10 million subjects.
FH is associated with multiple physical findings, such as xanthomas or xanthelasmas, where their presence should increase the suspicion of the diagnosis of FH. Finally, universal screening for elevated serum cholesterol is recommended in all children by the ages of 9 to 11. However, if a child has a family history for homozygous FH, then the child should be screened by age 2. J Clin Lipidol. 2011; 5(6).
