Acute Coronary Syndrome in an Adolescent with Homozygous Familial Hypercholesterolemia
Journal Title: International Journal of Contemporary Medical Research - Year 2016, Vol 3, Issue 1
Abstract
Introduction: Familial hypercholesterolemia is a single gene disorder with autosomal codominant pattern of inheritance. While heterozygous familial hypercholesterolemia is common, homozygous familial hypercholesterolemia is distinctly uncommon with a worldwide prevalence of 1 in 1 million persons. Case report: Here we report a boy of 15 years of age, who had xanthomas, xanthelasmas and presented to us with acute coronary syndrome. His paternal uncle had died prematurely of coronary artery disease. The patient had very high level of LDL-C in blood. Coronary angiography revealed left main coronary artery stenosis with involvement of other coronaries. Conclusion: Very few cases of familial hypercholesterolemia have been reported from India. This is more likely due to lack of awareness of the disease rather than due to its rarity. Early diagnosis and prompt treatment will help prevent life threatening complications like premature atherosclerosis.
Authors and Affiliations
Biswajit Das, Trinath Kumar Mishra
Keywords
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