Homozygous Familial Hypercholesterolemia “Rare Disease”

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Homozygous Familial Hypercholesterolemia “Rare Disease”

The patients with severe HoFH illustrate the natural history of atherosclerosis within a short timeframe. Lipid-lowering therapy has to start in early childhood. Apheresis is still the treatment of choice in HoFH in whom the maximal current therapy does not achieve adequate control. Regarding the approvals of lomitapide (and mipomersen) are been obtained for adult patients, however, children with HoFH represent a particularly important group to which the indication could eventually be extended since they often develop cardiovascular heart disease in the first decade their life . In general the management of patients with rare diseases remains a continuous challenge.


Citation: Mombelli G, Castelnuovo S, Pavanello C (2014)Homozygous Familial Hypercholesterolemia “Rare Disease”. J Glycomics Lipidomics 4:e121.

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