CETP遺伝子エクソン15のミスセンス変異を有し一過性に著明な高HDL血症を呈した神経性食欲不振症の1例

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  • Transient severe hyper HDL-cholesterolemia in a case of anorexia nervosa

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Anorexia nervosa is known to induce various metabolic disorders such as low T3 syndrome, high levels of GH, liver function disorder, amenorrhea, hypokalemia, hypochloremia, hypoglycemia, and lymphopenia. We experienced a 20-year-old woman with anorexia nervosa who had severe liver dysfunction and hyper HDL-cholesterolemia (140mg/dl). The level of HDL-cholesterol changed in parallel with that of serum transaminase. With the recovery of serum transaminase levels, the level of HDL-choresterol normalized to 46mg/dl. In the analysis of CETP genes, she was heterozygotic in the CETP gene with exon 15 missense mutation. CETP activity and protein concentrations were at the lowend of the normal range.<br>In reported cases of anorexia nervosa, the level of HDL-cholesterol is not necessarily elevated. Since the high level of HDL-cholesterol was significantly associated with her serum transaminases levels, we speculate that high serum levels of HDL-cholesterol may result from the decrease of HTGL activity due to liver dysfunction and the increase of LPL due to hyperactivity on the basis of CETP deficient heterozygotes.

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