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Recent advances in the treatment of homozygous familial hypercholesterolaemia

Marais, Adrian D.a; Blom, Dirk J.b

doi: 10.1097/MOL.0b013e32836308bc

Purpose of review To review publications in the English literature over the past 18 months relating to the management of homozygous familial hypercholesterolaemia.

Recent findings 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.

Summary 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.

aChemical Pathology, National Health Laboratory Service

bInternal Medicine, Medical Research Council Cape Heart Group, University of Cape Town, Cape Town, South Africa

Correspondence to David Marais, 6.33 Falmouth Building, University of Cape Town Health Science Faculty, Anzio Rd, Observatory 7925, Cape Town, South Africa. Tel: +27 21 406 6192; e-mail:

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