Related Experiment Video
Updated: Aug 19, 2026

A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
Published on: September 15, 2018
Cerebral cholesterol granuloma in homozygous familial hypercholesterolemia
Gordon A Francis1, Royce L Johnson, J Max Findlay
1Department of Medicine and Biochemistry, University of Alberta, Edmonton, Alta. gordon.francis@ualberta.ca
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.

