Abstract
Familial hypercholesterolemia (FH) is characterized by the accumulation of excess cholesterol in tissues including the artery wall and tendons. We describe a patient with homozygous FH who presented with asymptomatic cholesterol granuloma of the brain. The patient's plasma low-density lipoprotein cholesterol level was remarkably responsive to combination hypolipidemic therapy with statin plus ezetimibe. This case illustrates another potential complication of whole-body cholesterol excess and underscores the differences in phenotype and in response to therapy among patients with FH.
MeSH terms
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Anticholesteremic Agents / therapeutic use
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Azetidines / therapeutic use
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Brain Diseases / etiology*
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Brain Diseases / surgery
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Cholesterol*
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Cholesterol, LDL / blood
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Conjunctival Diseases / etiology
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Drug Therapy, Combination
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Edema / etiology
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Ezetimibe
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Female
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Granuloma, Foreign-Body / etiology*
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Granuloma, Foreign-Body / surgery
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Homozygote
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Humans
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Hydroxymethylglutaryl-CoA Reductase Inhibitors / therapeutic use
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Hyperlipoproteinemia Type II / complications*
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Hyperlipoproteinemia Type II / drug therapy
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Middle Aged
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Ophthalmic Solutions / adverse effects
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Point Mutation
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Vasodilation
Substances
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Anticholesteremic Agents
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Azetidines
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Cholesterol, LDL
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Hydroxymethylglutaryl-CoA Reductase Inhibitors
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Ophthalmic Solutions
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Cholesterol
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Ezetimibe