Clinical and biochemical characteristics of individuals with low cholesterol syndromes: AÂ comparison between familial hypobetalipoproteinemia and familial combined hypolipidemia

Truncating APOB mutations showed the more striking low-density lipoprotein cholesterol lowering effect compared with p.S17* mutation in ANGPTL3. Reduced high-density lipoprotein cholesterol levels were the unique lipid characteristic associated with FHBL2. Mutations impairing liver synthesis or secretion of apolipoprotein B are crucial to increase the risk of liver steatosis.