Cerebral cholesterol granuloma in homozygous familial hypercholesterolemia.
case_report · Level V
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- Record sourced from PubMed, PMID 15710941.
- Also identified by PMC identifier PMC287410.
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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.