Abstract:

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

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