Young Fatal Case of Familial Hypercholesterolemia: A Case Report
Journal Title: Journal of Cardiovascular Medicine and Cardiology - Year 2018, Vol 5, Issue 2
Abstract
Familial hypercholesterolemia (FH) is a genetic disease presented by high levels of serum low density lipoprotein (LDL), xanthomas and early coronary artery disease (CAD). The main cause of FH is LDL receptor abnormalities that decrease the uptake of LDL into cells, particularly into the liver cells, from the blood, resulting in the increase of serum LDL-cholesterol levels [1]. The incidence of homozygous FH (HoFH) is very low (1 in million people). However, heterozygous FH occurs in 1of 500 people, and is frequently detected by routine medical health check-up [2]. Since xanthomas may precede the diagnosis of hyperlipidemia, early identification can lead to preventive treatment that reduces the risk and morbidity of cardiovascular disease, including myocardial infarction. This case report presents a 24 year-old Indian female with multiple xanthomas involving the Achilles tendon, soles, hands, knees, elbows, and was associated with the premature severe coronary artery disease.
Authors and Affiliations
Showkat Hakim Irfan, Anwar Sadaf, Sharma Vinod, Asotra Sanjeev
Keywords
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- EP ID EP300974
- DOI 10.17352/2455-2976.000063
- Views 63
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