Other names: Fredrickson Type IIa Hyperlipoproteinemia; Hyperlipoproteinemia, Fredrickson Type IIa
Hyperlipoproteinemia Type IIa is characterized by elevated LDL but normal triglycerides and is due to a deficiency of the LDL receptor, a defect of the receptor or a modified LDL-apolipoprotein B-100, caused by mutation in the LDL receptor (LDLR) gene on chromosome 19p.