title: Novel therapeutic strategies for the homozygous familial hypercholesterolemia.
abstract: 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.
authors.affiliation: Dyslipidemia Center A.O. Ospedale Niguarda Cà Granda, Piazza Ospedale Maggiore 3, 20162, Milan - Italy. giuliana.mombelli@ospedaleniguarda.it
authors.forename: Giuliana
authors.initials: G
authors.lastname: Mombelli
authors.forename: Chiara
authors.initials: C
authors.lastname: Pavanello
mesh_terms: D000924:Anticholesteremic Agents / Q000627:therapeutic use*; D008078:Cholesterol, LDL / Q000097:blood / Q000235:genetics / Q000378:metabolism; D006720:Homozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000188:drug therapy* / Q000235:genetics / Q000378:metabolism; D011973:Receptors, LDL / Q000235:genetics / Q000378:metabolism
chemical_list: D000924:Anticholesteremic Agents; D008078:Cholesterol, LDL; D011973:Receptors, LDL