Novel Therapeutic Strategies for the Homozygous Familial Hypercholesterolemia
Giuliana Mombelli and Chiara Pavanello
Pages 143-150 (8)
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.
Current treatments, homozygous familial hypercholesterolemia, mipomersen, MTP inhibitor/Lomitapide, patents,
Dyslipidemia Center A.O. Ospedale Niguarda Cà Granda, Piazza Ospedale Maggiore 3, 20162, Milan - Italy.