Treatment of Familial Hypercholesterolemia with Metyrapone

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Abstract
To the Editor: The increase in body cholesterol in familial hypercholesterolemia (hyperbetalipoproteinemia, Type II HLP) cannot be attributed, in the main, to dietary excess, increased cholesterol biosynthesis or decreased bile acid formation. The only other route for cholesterol degradation is in the formation of steroid hormones, but little is known of the normal rate of utilization of serum cholesterol for steroid biosynthesis in man. A congenital or acquired derangement in adrenal utilization of serum cholesterol could account for a gradual but persistent accumulation of cholesterol in the body. I have examined this hypothesis in four patients with Type IIB HLP . . .

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