Last updated: January 16, 2025 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...
Last Updated: May 7, 2024 Introduction to Familial LCAT Deficiency, FLD Familial LCAT deficiency (FLD) is a rare (incidence below 1:1,000,000) autosomal recessive disorder due to mutations in the LCAT gene (encoding lecithin:cholesterol ester transferase) that cause...
Last Updated: May 22, 2024 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...
Last Updated: September 15, 2022 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...