Cerebral cholesterol granuloma in homozygous familial hypercholesterolemia

Francis, Gordon A.; Johnson, Royce L.; Findlay, J. Max; Jian Wang; Hegele, Robert A.
February 2005
CMAJ: Canadian Medical Association Journal;2/15/2005, Vol. 172 Issue 4, p495
Academic Journal
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.


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