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Atherogenic risk factors in cerebrotendinous xanthomatosis
J Fujiyama1, M Kuriyama, S Arima
1Third Department of Internal Medicine, Kagoshima University School of Medicine, Japan.
Insights
Cerebrotendinous xanthomatosis (CTX) patients exhibit lower atherogenic risk factors but frequent coronary artery disease. This suggests a unique, non-traditional mechanism driving atherosclerosis in CTX, possibly linked to disturbed lipoprotein metabolism.
Area of Science:
- Cardiovascular Medicine
- Metabolic Disorders
- Lipidology
Background:
- Cerebrotendinous xanthomatosis (CTX) is a rare genetic disorder characterized by cholestanol accumulation.
- Coronary artery disease (CAD) is frequently observed in CTX patients, despite a seemingly reduced risk profile.
- The underlying mechanisms linking CTX to accelerated atherosclerosis remain unclear.
Purpose of the Study:
- To investigate the presence of traditional atherogenic risk factors in CTX patients.
- To analyze serum lipid and lipoprotein profiles in CTX patients compared to controls.
- To explore potential unique mechanisms of atherosclerosis development in CTX.
Main Methods:
- Assessment of traditional atherogenic risk factors in seven CTX patients.
- Detailed analysis of serum lipid profiles, including total cholesterol, LDL-C, HDL2-C, triglycerides, and VLDL.
- Calculation of atherosclerosis risk indices and lipoprotein ratios.
Main Results:
- Four out of seven CTX patients showed coronary arterial narrowing or obstruction.
- No traditional atherogenic risk factors were identified in the CTX patients.
- CTX patients exhibited lower total cholesterol, LDL-C, triglyceride, and VLDL levels.
- CTX patients displayed higher HDL2-C levels.
- Calculated atherogenic indices suggested an 'anti-atherogenic' profile in CTX serum.
Conclusions:
- A discrepancy exists between the 'anti-atherogenic' lipid profile and the high prevalence of CAD in CTX patients.
- This suggests a unique, non-traditional pathway for atherosclerosis induction in CTX.
- Disturbed lipoprotein metabolism and sterol deposition are implicated as potential mechanisms driving atherosclerosis in CTX.
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 lipoprotein2-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.