New Frontiers in the Treatment of Homozygous Familial Hypercholesterolemia.

Arturo Cesaro, Fabio Fimiani, Felice Gragnano, Elisabetta Moscarella, Alessandra Schiavo, Andrea Vergara, Leo Akioyamen, Laura D'Erasmo, Maurizio Averna, Marcello Arca, Paolo Calabrò

Journal: Heart failure clinics 2021;18(1):177-188

PMID: 34776078

Full Text on Elsevier Science View on PubMed

Abstract

Homozygous familial hypercholesterolemia (HoFH) is a rare genetic disorder. The most common cause is a mutation in both alleles of the gene encoding for the low-density lipoprotein (LDL) receptor, although other causative mutations have been identified. Complications of atherosclerotic cardiovascular disease are common in these patients; therefore, reducing the elevated LDL-cholesterol burden is critical in their management. Conventionally, this is achieved by patients initiating lipid-lowering therapy, but this can present challenges in clinical practice. Fortunately, novel therapeutic strategies have enabled promising innovations in HoFH treatment. This review highlights recent and ongoing studies examining new therapeutic options for patients with HoFH.

Address: Department of Translational Medical Sciences, University of Campania "Luigi Vanvitelli", Naples, Italy; Division of Cardiology, A.O.R.N. "Sant'Anna e San Sebastiano", Edificio C - Cardiologia Universitaria, Via Ferdinando Palasciano 1, Caserta 81100, Italy. Electronic address: https://twitter.com/arturocesaro.; Unit of Inherited and Rare Cardiovascular Diseases, A.O.R.N. Dei Colli "V. Monaldi", Via Leonardo Bianchi snc, Naples 80131, Italy.; Department of Translational Medical Sciences, University of Campania "Luigi Vanvitelli", Naples, Italy; Division of Cardiology, A.O.R.N. "Sant'Anna e San Sebastiano", Edificio C - Cardiologia Universitaria, Via Ferdinando Palasciano 1, Caserta 81100, Italy. Electronic address: https://twitter.com/FeliceGragnano.; Department of Translational Medical Sciences, University of Campania "Luigi Vanvitelli", Naples, Italy; Division of Cardiology, A.O.R.N. "Sant'Anna e San Sebastiano", Edificio C - Cardiologia Universitaria, Via Ferdinando Palasciano 1, Caserta 81100, Italy.; Faculty of Medicine, University of Toronto, 200 Elizabeth Street, Toronto, Ontario M5G 2C4, Canada.; Department of Translational and Precision Medicine "Sapienza" University of Rome, Azienda Ospedaliero-Universitaria Policlinico Umberto I, Ex III Clinica Medica, Viale dell'Università, 37, Rome 00185, Italy.; Department of Health Promotion Sciences Maternal and Infantile Care, University of Palermo, A.O.U.P 'Paolo Giaccone' Padiglione n. 10, Via del Vespro 129, Palermo 90127, Italy.; Department of Translational Medical Sciences, University of Campania "Luigi Vanvitelli", Naples, Italy; Division of Cardiology, A.O.R.N. "Sant'Anna e San Sebastiano", Edificio C - Cardiologia Universitaria, Via Ferdinando Palasciano 1, Caserta 81100, Italy. Electronic address: [email protected].

DOI: 10.1016/j.hfc.2021.07.008

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MeSH Terms: Anticholesteremic Agents, Benzimidazoles, Cholesterol, LDL, Homozygote, Humans, Hyperlipoproteinemia Type II