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Familial hypercholesterolaemia presenting with coronary artery disease in a young patient

A man in his early 20s presented with an angina on exertion and postprandial angina. Upon examination, the patient had carotid artery bruit and multiple tendon xanthomas. His lipid profile showed a very high total and low-density lipoprotein cholesterol; treadmill test was strongly positive. Subsequ...

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Published in:	BMJ case reports 2013-03, Vol.2013, p.bcr2013008718
Main Authors:	Subramani, K S, Kolhari, Vikram B, Manjunath, C N, Bhairappa, Shivkumar
Format:	Article
Language:	English
Subjects:	Angina pectoris Angioplasty Asia Cardiovascular disease Cholesterol Coronary Artery Disease - etiology Coronary vessels Family medical history Heart attacks Humans Hyperlipoproteinemia Type II - complications Hyperlipoproteinemia Type II - diagnosis Hypothyroidism Indian Sub-Continent Lipids Lipoproteins Male Medical imaging Metabolism Mortality Mutation Rare Disease Young Adult
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description	A man in his early 20s presented with an angina on exertion and postprandial angina. Upon examination, the patient had carotid artery bruit and multiple tendon xanthomas. His lipid profile showed a very high total and low-density lipoprotein cholesterol; treadmill test was strongly positive. Subsequent coronary angiogram revealed triple vessel disease. The patient underwent revascularisation and is on lipid lowering therapy.
doi_str_mv	10.1136/bcr-2013-008718
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subjects	Angina pectoris Angioplasty Asia Cardiovascular disease Cholesterol Coronary Artery Disease - etiology Coronary vessels Family medical history Heart attacks Humans Hyperlipoproteinemia Type II - complications Hyperlipoproteinemia Type II - diagnosis Hypothyroidism Indian Sub-Continent Lipids Lipoproteins Male Medical imaging Metabolism Mortality Mutation Rare Disease Young Adult
title	Familial hypercholesterolaemia presenting with coronary artery disease in a young patient
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