Cerebral Cholesterol Granuloma in Homozygous Familial Hypercholesterolemia

Overview

Journal CMAJ

Date 2005 Feb 16

PMID 15710941

Citations 4

Authors

Gordon A Francis

Royce L Johnson

J Max Findlay

Jian Wang

Robert A Hegele

Affiliations

Soon will be listed here.

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.

Citing Articles

Familial hypercholesterolemia with bilateral cholesterol granuloma: A case series.

Albakheet N, Al-Shawi Y, Bafaqeeh M, Fatani H, Orz Y, Shami I Int J Surg Case Rep. 2019; 62:135-139.

PMID: 31499414 PMC: 6734150. DOI: 10.1016/j.ijscr.2019.07.018.

Multifocal thymic cysts with cholesterol granuloma.

Nagata S, Ishihara M, Omasa M, Nakanishi T, Motoyama H Respirol Case Rep. 2018; 6(7):e00361.

PMID: 30186607 PMC: 6118296. DOI: 10.1002/rcr2.361.

Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society.

Cuchel M, Bruckert E, Ginsberg H, Raal F, Santos R, Hegele R Eur Heart J. 2014; 35(32):2146-57.

PMID: 25053660 PMC: 4139706. DOI: 10.1093/eurheartj/ehu274.

LDLR promoter variant and exon 14 mutation on the same chromosome are associated with an unusually severe FH phenotype and treatment resistance.

Snozek C, Lagerstedt S, Khoo T, Rubenfire M, Isley W, Train L Eur J Hum Genet. 2008; 17(1):85-90.

PMID: 18648394 PMC: 2985960. DOI: 10.1038/ejhg.2008.138.

References

Wang J, Huff E, Janecka L, Hegele R . Low density lipoprotein receptor (LDLR) gene mutations in Canadian subjects with familial hypercholesterolemia, but not of French descent. Hum Mutat. 2001; 18(4):359. DOI: 10.1002/humu.1205. View

Tos M, Stangerup S, Caye-Thomasen P, Tos T, Thomsen J . What is the real incidence of vestibular schwannoma?. Arch Otolaryngol Head Neck Surg. 2004; 130(2):216-20. DOI: 10.1001/archotol.130.2.216. View

Cristante L, Puchner M . A keyhole middle fossa approach to large cholesterol granulomas of the petrous apex. Surg Neurol. 2000; 53(1):64-70; discussion 70-1. DOI: 10.1016/s0090-3019(99)00163-9. View

Leren T, Sundvold H, Rodningen O, Tonstad S, Solberg K, Ose L . Screening for known mutations in the LDL receptor gene causing familial hypercholesterolemia. Hum Genet. 1995; 95(6):671-6. DOI: 10.1007/BF00209485. View

Gherini S, Brackmann D, Lo W . Cholesterol granuloma of the petrous apex. Laryngoscope. 1985; 95(6):659-64. DOI: 10.1288/00005537-198506000-00005. View