Joseph P McConnell, Dawn Thiselton

At a Glance Familial defective apolipoprotein B-100 (FDB) is a phenocopy of familial hypercholesterolemia (FH) and a significant cause of coronary heart disease (CHD). This fairly common cause of FH is an autosomal dominant disorder caused by mutations in the ligand-binding domain (exon 26) of the APOB gene on chromosome 2p24.1 that result in defective…

At a Glance Familial hypercholesterolemia is the most common monogenic disorder of lipoprotein metabolism and may be encountered fairly frequently by physicians. Most FH cases are either undiagnosed or only diagnosed after the primary coronary event. A patient with very high plasma levels of low density lipoprotein-cholesterol (LDL-C), a strong family history of high LDL-C…