Recent advances in the treatment of homozygous familial hypercholesterolaemia

Abstract

The management of homozygous familial hypercholesterolaemia by pharmacological means is improving with agents that limit lipoprotein production but plasmapheresis, generally in combination with additional pharmacological treatment, remains the proven option. Liver transplantation is now less likely to be undertaken owing to improved pharmacological options and prognosis.

The Agenda for Familial Hypercholesterolemia

“…167 Although the action of PCSK9 inhibitors depends on the presence of functional LDL receptors, this therapy has recently been shown to be partially effective in homozygous FH, at least in those subjects who are receptor defective. 12,13,92,[168][169][170] Lipoprotein Apheresis LA, an extracorporeal treatment that removes apoB-containing lipoproteins from the circulation, appears to improve cardiovascular outcomes and should be considered by 5 years of age or earlier in exceptional circumstances.…”

Improving lipoprotein profiles by liver-directed gene transfer of low density lipoprotein receptor gene in hypercholesterolaemia mice

“…Moreover, the adverse effects in response to drugs such as liver toxicity or myopathy increases after prolonged use (Miltiadous et al 2005). The surgical intervention methods are costly and especially, require lifelong immunosuppressant for individuals who received liver transplantation (Marais and Blom 2013).…”

Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation

“…This has prompted the development of highly innovative therapies that can provide substantive reductions in LDLcholesterol additional to standard therapies [164,165], with significant implications also for the treatment of homozygous FH [174]. The long-term efficacy, safety and tolerability of these agents remain to be demonstrated, however.…”