Marina Cuchel, Paul C Lee, Lisa C Hudgins, P Barton Duell, Zahid Ahmad, Seth J Baum, MacRae F Linton, Sarah D de Ferranti, Christie M Ballantyne, John A Larry, Linda C Hemphill, Iris Kindt, Samuel S Gidding, Seth S Martin, Patrick M Moriarty, Paul P Thompson, James A Underberg, John R Guyton, Rolf L Andersen, David J Whellan, Irwin Benuck, John P Kane, Kelly Myers, William Howard, David Staszak, Allison Jamison, Mary C Card, Mafalda Bourbon, Joana R Chora, Daniel J Rader, Joshua W Knowles, Katherine Wilemon, Mary P McGowan
Background Homozygous familial hypercholesterolemia (HoFH) is a rare, treatment-resistant disorder characterized by early-onset atherosclerotic and aortic valvular cardiovascular disease if left untreated. Contemporary information on HoFH in the United States is lacking, and the extent of underdiagnosis and undertreatment is uncertain. Methods and Results Data were analyzed from 67 children and adults with clinically diagnosed HoFH from the CASCADE (Cascade Screening for Awareness and Detection) FH Registry...
April 29, 2023: Journal of the American Heart Association