Diseases and Disorders, Hyperlipoproteinemias
Last Updated: October 27, 2025 Introduction to the Familial Hypercholesterolemias Classic familial hypercholesterolemia, FH (type 2a hyperlipidemia) is an autosomal dominant disorder that results from mutations affecting the structure and function of the cell-surface...
Diseases and Disorders, Hypolipoproteinemias
Last Updated: October 29, 2025 Introduction to Abetalipoproteinemia Abetalipoproteinemia is a dyslipidemic disorder resulting from mutations in the gene (MTTP) encoding microsomal triglyceride transfer protein, MTP. There are three essential functions associated with...
Diseases and Disorders, Hypolipoproteinemias
Last Updated: October 30, 2025 Clinical Features of PCSK9-Mediated FHBL Familial hypobetalipoproteinemia syndrome (FHBL) is causally associated with increased hepatic fat content. The most common mutations associated with FHBL are truncating mutations in the APOB...
