Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody

• Published in: Circulation. Cardiovascular genetics Vol. 8; no. 6; pp. 823 - 831
• Main Authors: Hopkins, Paul N., Defesche, Joep, Fouchier, Sigrid W., Bruckert, Eric, Luc, Gérald, Cariou, Bertrand, Sjouke, Barbara, Leren, Trond P., Harada-Shiba, Mariko, Mabuchi, Hiroshi, Rabès, Jean-Pierre, Carrié, Alain, van Heyningen, Charles, Carreau, Valérie, Farnier, Michel, Teoh, Yee P., Bourbon, Mafalda, Kawashiri, Masa-aki, Nohara, Atsushi, Soran, Handrean, Marais, A. David, Tada, Hayato, Abifadel, Marianne, Boileau, Catherine, Chanu, Bernard, Katsuda, Shoji, Kishimoto, Ichiro, Lambert, Gilles, Makino, Hisashi, Miyamoto, Yoshihiro, Pichelin, Matthieu, Yagi, Kunimasa, Yamagishi, Masakazu, Zair, Yassine, Mellis, Scott, Yancopoulos, George D., Stahl, Neil, Mendoza, Johanna, Du, Yunling, Hamon, Sara, Krempf, Michel, Swergold, Gary D.
• Format: Journal Article
• Language: English
• Published: United States American Heart Association, Inc 01.12.2015; Lippincott Williams & Wilkins
• Subjects: Adolescent; Adult; Aged; Antibodies, Monoclonal - administration & dosage; Cholesterol, LDL - blood; Coronary Artery Disease - blood; Coronary Artery Disease - drug therapy; Coronary Artery Disease - genetics; Double-Blind Method; Female; Humans; Hyperlipoproteinemia Type II - blood; Hyperlipoproteinemia Type II - drug therapy; Hyperlipoproteinemia Type II - genetics; Male; Middle Aged; Mutation; Original; Proprotein Convertase 9; Proprotein Convertases - antagonists & inhibitors; Proprotein Convertases - genetics; Proprotein Convertases - metabolism; Serine Endopeptidases - genetics; Serine Endopeptidases - metabolism; PCSK9 protein; clinical trial; genetics; alirocumab; cardiovascular diseases; human; hypercholesterolemia

BACKGROUND—Patients with PCSK9 gene gain of function (GOF) mutations have a rare form of autosomal dominant hypercholesterolemia. However, data examining their clinical characteristics and geographic distribution are lacking. Furthermore, no randomized treatment study in this population has been rep...