FAMILIAL HYPERCHOLESTEROLEMIA: A CASE REPORT FROM A COMPLEX INDIAN FAMILY

Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder with a very high prevalence of almost 1 in 200-500 people. Genetic testings have commonly revealed mutations genes namely LDLR, APOB, and PCSK9. In order to provide better management minimize the risk premature Coronary heart disease (CHD) affected people, early identification FH patients screening their first-degree relatives recommended. this paper, we present rare case complicatedly related Indian family homozygous LDLR mutation detected three members. The study re-emphasizes importance for Hypercholesterolemia also immediate members management, improving quality life, increasing life span.