Statins, usually at high doses, can reduce LDL levels, occasionally to acceptable levels (see Table 28–3). The earlier in life that treatment is begun, the better the outcome in reducing mortality from atherosclerosis. In homozygous FH, if high-dose statins do not reduce LDL sufficiently, treatment with a monoclonal antibody (eg, alirocumab and evolocumab) that blocks the action of the PCSK9 enzyme (which inactivates hepatic receptors that transport LDL into the liver for metabolism) can be an expensive adjunct to standard therapy (Chapter 28, Lipid Disorders). If all else fails, then plasmapheresis is needed to reduce LDL.
Another important need in effective management is to screen relatives who are at risk, certainly by measuring LDL levels, but increasingly by identifying the mutation in the family and utilizing that for screening.