Endocrine Abstracts

Familial Hypercholesterolemia (FH) is a monogenic disease, associated with variants in the LDLR, APOB, and PCSK9 genes. The initial diagnosis is based on clinical criteria like the DLCN criteria. A score > 8 points qualifies the patient as "definite" for the diagnosis of FH. It is characterized by lifelong elevations in plasma low-density lipoprotein cholesterol (LDL-C) levels and premature coronary heart disease (CHD). FH is an underdiagnosed and undertreated gene...