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Cerebral cholesterol granuloma in homozygous familial hypercholesterolemia.


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.

SUBMITTER: Francis GA 

PROVIDER: S-EPMC548411 | biostudies-literature | 2005 Feb

REPOSITORIES: biostudies-literature

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Cerebral cholesterol granuloma in homozygous familial hypercholesterolemia.

Francis Gordon A GA   Johnson Royce L RL   Findlay J Max JM   Wang Jian J   Hegele Robert A RA  

CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne 20050201 4


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 und  ...[more]

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