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Coronary heart disease in a patient with cerebrotendinous xanthomatosis

Coronary heart disease in a patient with cerebrotendinous xanthomatosis Abstract. Coronary heart disease is a prevalent condition and a leading cause of death in developed countries. Most cases are due to the cluster of classical risk factors, such as smoking, diabetes, high blood pressure and dyslipidaemia. However, a few patients develop severe and premature arteriosclerosis in spite of absence of common risk factors. Here, we present the clinical, analytical and molecular features of a 36‐years‐old man who died from advanced ischaemic heart disease as a result of cerebrotendinous xanthomatosis (CTX), a rare condition characterized by elevation in plasma and most tissues of cholestanol and where neurological impairment is the hallmark of this disease. We discuss the relevance of heart disease and the mechanism leading to accelerate arteriosclerosis is CTX. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Journal of Internal Medicine Wiley

Coronary heart disease in a patient with cerebrotendinous xanthomatosis

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References (19)

Publisher
Wiley
Copyright
Copyright © 2004 Wiley Subscription Services, Inc., A Wiley Company
ISSN
0954-6820
eISSN
1365-2796
DOI
10.1111/j.1365-2796.2004.01316.x
pmid
15147532
Publisher site
See Article on Publisher Site

Abstract

Abstract. Coronary heart disease is a prevalent condition and a leading cause of death in developed countries. Most cases are due to the cluster of classical risk factors, such as smoking, diabetes, high blood pressure and dyslipidaemia. However, a few patients develop severe and premature arteriosclerosis in spite of absence of common risk factors. Here, we present the clinical, analytical and molecular features of a 36‐years‐old man who died from advanced ischaemic heart disease as a result of cerebrotendinous xanthomatosis (CTX), a rare condition characterized by elevation in plasma and most tissues of cholestanol and where neurological impairment is the hallmark of this disease. We discuss the relevance of heart disease and the mechanism leading to accelerate arteriosclerosis is CTX.

Journal

Journal of Internal MedicineWiley

Published: Jun 1, 2004

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