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, 2026 Introduction to Abetalipoproteinemia Abetalipoproteinemia is a dyslipidemic disorder resulting from pathogenic variants in the gene (MTTP) encoding microsomal triglyceride transfer protein, MTP. There are three essential functions...
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...
