Vol - 25, Issue - 4
About the Journal
[This article belongs to Volume - 25, Issue - 4]
International Medical Journal
Journal ID : IMJ-11-03-2020-333
Total View : 180

Abstract : Familial hypercholesterolemia is an autosomal dominant disorder that is associated with tendon xanthoma, increased plasma LDL-C level and subsequent risk to develop premature cardiovascular disease. The aim of this review is to present a brief summary about clinical, biochemical and molecular aspects of familial hyperchoelstroelmia. It is mainly caused by mutations in the LDLR gene which is the most frequent cause for this disease followed by mutations in the APOB-100 gene and rarely by mutations in the PCSK9 gene. Few international criteria were established for the clinical diagnosis of FH that depend on the positive family history of premature heart disease and /or hyperlipidemia, plus the high low density lipoprotein level, however molecular detection of the causative gene mutation is still needed to confirm the diagnosis of familial hypercholesterolemia. Traditional cardiovascular risk factors are still contributing to cardiovascular disease among patients with this hereditary disease, for that reason the earlier diagnosis plus cascade family screening programs are essential, so that patients can start to change to a healthier lifestyle, even starting hypolipidemic therapy to reduce the risk of subsequent cardiovascular disease among familial hypercholestrolemic patients

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