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Coronary heart disease in a patient with cerebrotendinous xanthomatosis
Author(s) -
Valdivielso P.,
Calandra S.,
Durán J. C.,
Garuti R.,
Herrera E.,
González P.
Publication year - 2004
Publication title -
journal of internal medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.625
H-Index - 160
eISSN - 1365-2796
pISSN - 0954-6820
DOI - 10.1111/j.1365-2796.2004.01316.x
Subject(s) - cerebrotendinous xanthomatosis , medicine , coronary heart disease , cardiology , cholesterol
. 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.