Defining the challenges of familial hypercholesterolemia screening: introduction.
Heterozygous familial hypercholesterolemia (FH) is one of the most common serious genetic conditions known. Appropriate treatment is clearly cost-effective, yet public health efforts are minimal in most countries. Despite remarkable progress in understanding of the genetic basis of cardiovascular disease and much talk about personalized medicine, we are still missing huge opportunities to find and help people with FH. Indeed, FH is the only genetic cause of premature CAD for which a systematic, population-based approach to find affected individuals and screen their families is clearly warranted at this time. Finding and helping persons with FH is the mission of the MEDPED program.
Cardiovascular Genetics Research, University of Utah, 420 Chipeta Way, Room 1160, Salt Lake City, UT 84108, USA. paul.hopkins@utah.edu
Paul N
PN
Hopkins
D001055:Apolipoproteins B / Q000235:genetics; D008078:Cholesterol, LDL / Q000097:blood; D006579:Heterozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis* / Q000235:genetics; D000071449:Proprotein Convertase 9; D043484:Proprotein Convertases; D011973:Receptors, LDL / Q000235:genetics; D012697:Serine Endopeptidases / Q000235:genetics
D001055:Apolipoproteins B; D008078:Cholesterol, LDL; D011973:Receptors, LDL; C472125:PCSK9 protein, human; D000071449:Proprotein Convertase 9; D043484:Proprotein Convertases; D012697:Serine Endopeptidases