title: JCL Roundtable: diagnosis of severe familial hypercholesterolemia.
abstract: The diagnosis of familial hypercholesterolemia is usually straightforward. The severely elevated low-density lipoprotein cholesterol and the occurrence of high concentrations of low-density lipoprotein cholesterol in the parents provide the diagnosis. The presence of tendon xanthomata is confirmation but not necessary. However, this relatively simple picture becomes much more complicated when one attempts to define the genetic variants that actually produced this clinical syndrome. In this Roundtable discussion, I am joined by two experts in the identification of genetic abnormalities discovered in those with phenotypic familial hypercholesterolemia. Dr. John Kane from the University of California, San Francisco, and Dr. Daniel Rader from the University of Pennsylvania share their knowledge in and experience with this topic.
authors: Emory University School of Medicine, 3208 Habersham Road NW, Atlanta, GA 30305, USA. Electronic address: wbrow925@bellsouth.net.
authors: W Virgil
authors: WV
authors: Brown
authors: Daniel J
authors: DJ
authors: Rader
authors: John
authors: J
authors: Kane
mesh_terms: D001055:Apolipoproteins B / Q000235:genetics; D008078:Cholesterol, LDL / Q000097:blood; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis* / Q000235:genetics; D009154:Mutation; D010641:Phenotype; D000071449:Proprotein Convertase 9; D043484:Proprotein Convertases / Q000235:genetics; D011973:Receptors, LDL / Q000235:genetics; D012697:Serine Endopeptidases / Q000235:genetics
chemical_list: D001055:Apolipoproteins B; D008078:Cholesterol, LDL; D011973:Receptors, LDL; C472125:PCSK9 protein, human; D000071449:Proprotein Convertase 9; D043484:Proprotein Convertases; D012697:Serine Endopeptidases
keywords: Familial hypercholesterolemia; Homozygous; LDL receptor; LDL-C