Diseases and Disorders, Diseases of Cholesterol and Lipoprotein Metabolism, Hyperlipoproteinemias
Last updated: August 8, 2026 Introduction to Familial Chylomicronemia Syndrome (FCS) Familial chylomicronemia syndrome (FCS) represents a family of related monogenic disorders that manifest with symptoms typical of the related, polygenic disorder simply termed...
Diseases and Disorders, Hyperlipoproteinemias
Last Updated: July 13, 2026 Introduction to Familial LCAT Deficiency, FLD Familial LCAT deficiency (FLD) is a rare (incidence below 1:1,000,000) autosomal recessive disorder due to pathogenic variants in the LCAT gene (encoding lecithin:cholesterol ester transferase)...
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, Hyperlipoproteinemias
Last Updated: July 13, 2026 Identification of Lp(a) Lipoprotein(a) [Lp(a)] was originally described as a new serum lipoprotein particle by Kare Berg in 1963. Lp(a) is composed of a common LDL nucleus linked to a molecule of apolipoprotein(a) [apo(a); encoded by the...