What about homozygous FH? For the child with homozygous FH (the FH gene inherited from both parents), therapy should begin at diagnosis, regardless of the age of the child. Statins and other agents may help in terms of LDL lowering, and these are generally prescribed on a trial and error basis. However, apheresis is almost always necessary to achieve target LDL levels.
Monitoring for the presence or development of CVD is critical. There is no way to predict when these children can have a cardiac event, so coronary angiography and other assessments of atherosclerosis should be considered. Liver transplantation is now being considered in some centers as primary treatment, but there are very few long-term outcome data for this approach, and gene therapy remains for future consideration. J Clin Lipidol. 2011; 5(6).
