Familial hyperlipidemia type 3

Familial hyperlipidemias are classified according to the Fredrickson classification. Type III is also known is familial dysbetalipoproteinemia. It is mainly linked to an increase of IDL. This is caused by APOE. APOE has multiple types, and is part of LDL, IDL, VLDL and chylomicrons. APOE also binds to LDLR, which is required for normal catabolism of triglycerid-rich proteins. Specifically APOE2 is linked with to IDL and because of this, mutations in APOE2 will lead to dysbetalipoproteinemia.

家族性高脂血症的分类依据弗雷德里克森分类法。其中，III型亦称为家族性异常β脂蛋白血症。此类病症主要与Intermediate Density Lipoprotein（IDL）水平的升高有关。其成因与Apolipoprotein E（APOE）蛋白相关。APOE蛋白具有多种亚型，并构成低密度脂蛋白（LDL）、IDL、极低密度脂蛋白（VLDL）和乳糜微粒的组成部分。此外，APOE蛋白还能够与低密度脂蛋白受体（LDLR）结合，这对于富含甘油三酯蛋白的正常分解代谢至关重要。特别是，APOE2亚型与IDL密切相关，因此APOE2基因的突变将导致异常β脂蛋白血症的发生。