FAMILIAL HYPERCHOLESTEROLEMIA

Course overview

FAMILIAL HYPERCHOLESTEROLEMIA IS A GROUP OF INHERITED GENETIC DEFECTS THAT LEAD TO THE SEVERE ELEVATION OF SERUM CHOLESTEROL CONCENTRATIONS. CLINICALLY FAMILIAL HYPERCHOLESTEROLEMIA IS DIAGNOSED BY A HIGH SERUM LEVEL OF LOW-DENSITY LIPOPROTEIN (LDL) CHOLESTEROL AND GENETICALLY IS CHARACTERIZED INTO TWO SUBGROUPS: (1) AUTOSOMAL DOMINANT (AD), (2) CODOMINANT TRANSMISSION WITH 90% OR HIGHER PENETRANCE. THIS ACTIVITY REVIEWS THE EVALUATION AND MANAGEMENT OF FAMILIAL HYPERCHOLESTEROLEMIA AND HIGHLIGHTS THE INTERPROFESSIONAL TEAM'S ROLE IN EVALUATING AND TREATING PATIENTS WITH THIS DISEASE.