Literature DB >> 15710941

Cerebral cholesterol granuloma in homozygous familial hypercholesterolemia.

Gordon A Francis1, Royce L Johnson, J Max Findlay, Jian Wang, Robert A Hegele.   

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.

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Year:  2005        PMID： 15710941      PMCID： PMC548411          DOI： 10.1503/cmaj.1041152

Source DB:  PubMed          Journal:  CMAJ        ISSN： 0820-3946            Impact factor:   8.262


  10 in total

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Journal:  Science       Date:  2004-02-20       Impact factor: 47.728

2.  What is the real incidence of vestibular schwannoma?

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Journal:  Arch Otolaryngol Head Neck Surg       Date:  2004-02

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Journal:  Hum Mutat       Date:  2001-10       Impact factor: 4.878

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Journal:  Surg Neurol       Date:  2000-01

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Journal:  Proc Natl Acad Sci U S A       Date:  1989-06       Impact factor: 11.205

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Journal:  Laryngoscope       Date:  1985-06       Impact factor: 3.325

Review 8.  Adult xanthogranulomatous intracranial lesion involving familial hypercholesterolemia.

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Journal:  Radiology       Date:  1984-12       Impact factor: 11.105

10.  Screening for known mutations in the LDL receptor gene causing familial hypercholesterolemia.

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Journal:  Hum Genet       Date:  1995-06       Impact factor: 4.132
  10 in total
  4 in total

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

Authors:  Christine L H Snozek; Susan A Lagerstedt; Teck K Khoo; Melvyn Rubenfire; William L Isley; Laura J Train; Linnea M Baudhuin
Journal:  Eur J Hum Genet       Date:  2008-07-23       Impact factor: 4.246

2.  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.

Authors:  Marina Cuchel; Eric Bruckert; Henry N Ginsberg; Frederick J Raal; Raul D Santos; Robert A Hegele; Jan Albert Kuivenhoven; Børge G Nordestgaard; Olivier S Descamps; Elisabeth Steinhagen-Thiessen; Anne Tybjærg-Hansen; Gerald F Watts; Maurizio Averna; Catherine Boileau; Jan Borén; Alberico L Catapano; Joep C Defesche; G Kees Hovingh; Steve E Humphries; Petri T Kovanen; Luis Masana; Päivi Pajukanta; Klaus G Parhofer; Kausik K Ray; Anton F H Stalenhoef; Erik Stroes; Marja-Riitta Taskinen; Albert Wiegman; Olov Wiklund; M John Chapman
Journal:  Eur Heart J       Date:  2014-07-22       Impact factor: 35.855

3.  Multifocal thymic cysts with cholesterol granuloma.

Authors:  Shunichi Nagata; Misa Ishihara; Mitsugu Omasa; Takao Nakanishi; Hideki Motoyama
Journal:  Respirol Case Rep       Date:  2018-08-31

4.  Familial hypercholesterolemia with bilateral cholesterol granuloma: A case series.

Authors:  Nouf Albakheet; Yazeed Al-Shawi; Mohammed Bafaqeeh; Hanadi Fatani; Yasser Orz; Ibrahim Shami
Journal:  Int J Surg Case Rep       Date:  2019-07-19
  4 in total

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