Novel Therapeutic Strategies for the Homozygous Familial Hypercholesterolemia
Giuliana Mombelli and Chiara Pavanello
Affiliation: Dyslipidemia Center A.O. Ospedale Niguarda Cà Granda, Piazza Ospedale Maggiore 3, 20162, Milan - Italy.
HoFH is an autosomal co-dominant disease with a prevalence of one in 1,000,000. Mutations of LDL-R gene are
responsible for this disease. HoFH needs to be distinguished from autosomal recessive hypercholesterolemia protein
(ARH) that causes a similar clinical phenotype. HoFH induces aggressive cardiovascular disease that can develop from
birth. These patients possess high LDL-C levels, cutaneous and tendon xanthomas, and accelerated atherosclerosis shown
in the first 2 decades of life. Current treatment modalities include life-style modifications, lipid-lowering therapy and
LDL-apheresis. However, the treatment goal cannot be achieved only by statin therapy. New therapeutic strategies to
lower LDL-C have been developed over recent years. These include monoclonal antibodies binding to PCSK9, inhibition
of ApoB production and MTP-inhibitors. This review is focused on new treatments for HoFH and their patents. It is
known to be an important contribution in this rare disease, which is difficult to manage.
Keywords: Current treatments, homozygous familial hypercholesterolemia, mipomersen, MTP inhibitor/Lomitapide, patents,
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