Recent Patents on Cardiovascular Drug Discovery


Novel Therapeutic Strategies for the Homozygous Familial Hypercholesterolemia

Author(s): Giuliana Mombelli and Chiara Pavanello

Affiliation: Dyslipidemia Center A.O. Ospedale Niguarda Cà Granda, Piazza Ospedale Maggiore 3, 20162, Milan - Italy.

Keywords: Current treatments, homozygous familial hypercholesterolemia, mipomersen, MTP inhibitor/Lomitapide, patents, PCSK9 inhibitors.


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.

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Article Details

Page: [143 - 150]
Pages: 8
DOI: 10.2174/15748901112079990001