Atherogenic risk factors in cerebrotendinous xanthomatosis

doi:10.1016/0009-8981(91)90328-A

Clinica Chimica Acta

Volume 200, Issue 1, 15 August 1991, Pages 1-11

https://doi.org/10.1016/0009-8981(91)90328-A Get rights and content

Abstract

In a study of coronary artery disease in patients with cerebrotendinous xanthomatosis (CTX), we documented the presence or absence of atherogenic risk factors and performed detailed analyses of serum lipid and lipoprotein profiles. Four of the seven patients examined had coronary arterial narrowing and/or obstruction, but multiple atherogenic risk factors were not found in any of these patients. Total cholesterol (T.ch) levels and low density lipoprotein-cholesterol (LDL-ch) levels were lower, and high density lipoprotein ₂-cholesterol (HDL₂-ch) levels were higher in CTX patients than in controls. Triglyceride and very low density lipoprotein (VLDL) levels were significantly lower in the former. Indices correlating with the risk of atherosclerosis, such as the atherogenic index, and the ratios of apolipoprotein B/apolipoprotein AI, HDL₂-ch/LDL-ch, HDL₂-ch/HDL₃-ch, indicated that CTX serum was, in fact, ‘anti-atherogenic’. However, coronary artery disease is frequently seen in patients with CTX. This discrepancy suggests the existence of a unique mechanism by which atherosclerosis is induced in patients with CTX. We discuss a mechanism of disturbed lipoprotein metabolism which might be responsible for the deposition of sterols in the tissues of patients with CTX.

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^∗: Present address: Department of Clinical Medicine, National Institute for Minamata Disease, Kumamoto, Japan.

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Atherogenic risk factors in cerebrotendinous xanthomatosis

Abstract

J Neurol Sci

Am J Med

Metabolism

Am J Cardiol

J Chromatogr

J Biol Chem

J Neurol Sci

J Lipid Res

Familial disease with storage of sterols other than cholesterol: Cerebrotendinous Xanthomatosis and Phytosterolemia

Cerebrotendinous xanthomatosis. A defect in mitochondorial 26-hydroxylation required for normal biosynthesis of cholic acid

J Clin Invest

Cholic acid biosynthesis: The enzymatic defect in cerebrotendinous xanthomatosis

J Clin Invest

Une Forme Cerebrale de la cholésterinose géneralisée

Cerebrotendinous Xanthomatosis, Clinical and pathological studies

Arch Neurol

Subcellular distribution of cerebral cholestanol in cerebrotendinous xanthomatosis

J Neurochem

Familial pseudohypertrophy of tendo-Achilles with multisystem disease

South Med J

Cholestanol deposition in cerebrotendinous xanthomatosis. A possible mechanism

Ann Intern Med

Peripheral neuropathy in cerebrotendinous xanthomatosis

Arch Neurol