Defects in ANGPTL3 are the cause of familial hypobetalipoproteinemia type 2 (FHBL2); also called combined hypobetalipoproteinemia familial. FHBL2 is a disorder of lipid metabolism characterized by less than 5th percentile age- and sex-specific low density lipoproteins, and dietary fat malabsorption. Affected individuals present with combined hypolipidemia, consisting of extremely low plasma LDL cholesterol, HDL cholesterol, and triglycerides.
