Defining the challenges of FH screening for familial hypercholesterolemia.
The purpose of this article is to briefly review but also to highlight the rationale, motivation, and methods in the process of identifying patients of all ages with familial hypercholesterolemia (FH), an often hidden but very important genetic disorder. Since the initiation of population screening for FH in 1994 in the Netherlands, a vast amount of experience has been gathered, addressing almost all issues that are encountered in population screening.
Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, Meibergdreef 9, Amsterdam 1105, AZ, The Netherlands. j.defesche@amc.uva.nl
Joep C
JC
Defesche
D002318:Cardiovascular Diseases / Q000209:etiology; D042241:Early Diagnosis; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics; D011973:Receptors, LDL / Q000235:genetics; D012307:Risk Factors
D011973:Receptors, LDL