Diseases and Disorders, Hyperlipoproteinemias
Last Updated: July 13, 2026 Introduction to the Familial Hypercholesterolemias Classic familial hypercholesterolemia, FH (type 2a hyperlipidemia) is an autosomal dominant disorder that results from pathogenic variants affecting the structure and function of the...
Diseases and Disorders, Hypolipoproteinemias
Last Updated: July 13, 2065 Clinical Features of PCSK9-Mediated FHBL Familial hypobetalipoproteinemia syndrome (FHBL) is causally associated with increased hepatic fat content. The most common pathogenic variants associated with FHBL are truncating variants in the...
Diseases and Disorders, Hypolipoproteinemias
Last Updated: July 13, 2026 Clinical Features of APOB Truncation Variants Familial hypobetalipoproteinemia (FHBL) is an autosomal dominant disorder that is most commonly due to truncating loss-of-function variants in the APOB gene. The characteristic features of FHBL,...
Biochemistry Topics, Lipid Metabolism
Last Updated: April 7, 2026 Introduction to Cholesterol Cholesterol is an extremely important biological molecule that has roles in membrane structure as well as being a precursor for the synthesis of the steroid hormones, and the bile acids. The...
