title: Recent advances in the treatment of homozygous familial hypercholesterolaemia.
abstract: OBJECTIVE
  To review publications in the English literature over the past 18 months relating to the management of homozygous familial hypercholesterolaemia.
  
  
  RESULTS
  Experience with plasmapheresis has been summarized, guidelines are being introduced to enhance patient care and registries are under consideration to improve analysis of management in this rare but serious disorder. Liver transplantation has been reviewed for its biochemical efficacy, but still does not ensure freedom from vascular complications. For patients without access to plasmapheresis, there is now evidence that high-dose statins do improve the prognosis, but combination therapy with additional agents should still be considered for better outcome. Promising new agents that inhibit LDL production by limiting apolipoprotein B100 synthesis by means of antisense oligonucleotides (mipomersen) or by inhibition of microsomal triacylglycerol transfer protein (lomitapide) have made significant additional LDL reduction possible but are associated with hepatic fat accumulation and long-term safety data is still required. Several other lipid modulating agents and gene therapy are still being explored.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Chemical Pathology, National Health Laboratory Service, University of Cape Town, Cape Town, South Africa. david.marais@uct.ac.za
authors.forename: Adrian D
authors.initials: AD
authors.lastname: Marais
authors.forename: Dirk J
authors.initials: DJ
authors.lastname: Blom
mesh_terms: D000818:Animals; D000924:Anticholesteremic Agents / Q000627:therapeutic use; D001562:Benzimidazoles / Q000627:therapeutic use; D019468:Disease Management; D015316:Genetic Therapy; D006720:Homozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics / Q000378:metabolism / Q000628:therapy*; D050356:Lipid Metabolism; D008074:Lipoproteins / Q000097:blood; D010956:Plasmapheresis
chemical_list: D000924:Anticholesteremic Agents; C473731:BMS201038; D001562:Benzimidazoles; D008074:Lipoproteins