title: 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.
authors.affiliation: Department of Medicine and Biochemistry, University of Alberta, Edmonton, Alta. gordon.francis@ualberta.ca
authors.forename: Gordon A
authors.initials: GA
authors.lastname: Francis
authors.forename: Royce L
authors.initials: RL
authors.lastname: Johnson
authors.forename: J Max
authors.initials: JM
authors.lastname: Findlay
authors.forename: Jian
authors.initials: J
authors.lastname: Wang
authors.forename: Robert A
authors.initials: RA
authors.lastname: Hegele
mesh_terms: D000924:Anticholesteremic Agents / Q000627:therapeutic use; D001384:Azetidines / Q000627:therapeutic use; D001927:Brain Diseases / Q000209:etiology* / Q000601:surgery; D002784:Cholesterol; D008078:Cholesterol, LDL / Q000097:blood; D003229:Conjunctival Diseases / Q000209:etiology; D004359:Drug Therapy, Combination; D004487:Edema / Q000209:etiology; D000069438:Ezetimibe; D005260:Female; D015745:Granuloma, Foreign-Body / Q000209:etiology* / Q000601:surgery; D006720:Homozygote; D006801:Humans; D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors / Q000627:therapeutic use; D006938:Hyperlipoproteinemia Type II / Q000150:complications* / Q000188:drug therapy; D008875:Middle Aged; D009883:Ophthalmic Solutions / Q000009:adverse effects; D017354:Point Mutation; D014664:Vasodilation
chemical_list: D000924:Anticholesteremic Agents; D001384:Azetidines; D008078:Cholesterol, LDL; D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors; D009883:Ophthalmic Solutions; D002784:Cholesterol; D000069438:Ezetimibe