CMAJ • February 15, 2005; 172 (4). doi:10.1503/cmaj.1041152.
© 2005 Canadian Medical Association or its licensors
All editorial matter in CMAJ represents the opinions of the authors and not necessarily those of the Canadian Medical Association.
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Case report

Cerebral cholesterol granuloma in homozygous familial hypercholesterolemia

Gordon A. Francis, Royce L. Johnson, J. Max Findlay, Jian Wang and Robert A. Hegele

From the Departments of Medicine and Biochemistry (Francis), Ophthalmology (Johnson) and Neurosurgery (Findlay), University of Alberta, Edmonton, Alta., and the Blackburn Cardiovascular Genetics Laboratory, Robarts Research Institute (Wang, Hegele), London, Ont.

Correspondence to: Dr. Gordon A. Francis, Cardiovascular Risk Reduction Clinic, 328 HMRC, University of Alberta, Edmonton AB T6G 2S2; gordon.francis{at}ualberta.ca

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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S. L. Archer, I. Paterson, and G. A. Francis
Untreated 37-Year-Old Homozygous Familial Hypercholesterolemic Smoker
Circulation, May 30, 2006; 113(21): e777 - e777.
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