Literature DB >> 15527434

Homozygous familial hypercholesterolaemia presenting with cutaneous xanthomas: response to liver transplantation.

Mignon Moyle1, Bruce Tate.   

Abstract

A 19-month-old girl with cutaneous xanthomas was diagnosed with homozygous familial hypercholesterolaemia, treated with atorvastatin, plasma exchange and finally at the age of 3.5 years, with liver transplantation. Her serum cholesterol levels fell to normal and the xanthomas regressed following liver transplantation. She remains well 17 months post transplant.

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Year:  2004        PMID： 15527434     DOI： 10.1111/j.1440-0960.2004.00103.x

Source DB:  PubMed          Journal:  Australas J Dermatol        ISSN： 0004-8380            Impact factor:   2.875


  7 in total

1.  Fatal myocardial infarction at 4.5 years in a case of homozygous familial hypercholesterolaemia.

Authors:  Matthias Gautschi; Mladen Pavlovic; Jean-Marc Nuoffer
Journal:  JIMD Rep       Date:  2011-09-06

Review 2.  Genetics of Dyslipidemia and Ischemic Heart Disease.

Authors:  Kavita Sharma; Ragavendra R Baliga
Journal:  Curr Cardiol Rep       Date:  2017-05       Impact factor: 2.931

3.  Identification of a recurrent insertion mutation in the LDLR gene in a Pakistani family with autosomal dominant hypercholesterolemia.

Authors:  Muhammad Ajmal; Waqas Ahmed; Ahmed Sadeque; Syeda Hafiza Benish Ali; Syed Habib Bokhari; Nuzhat Ahmed; Raheel Qamar
Journal:  Mol Biol Rep       Date:  2010-03-10       Impact factor: 2.316

4.  Palmar xanthoma-an indicator of a more sinister problem.

Authors:  Devesh Sharma; Sunil Thirkannad
Journal:  Hand (N Y)       Date:  2009-09-22

5.  A Case of Severe Carotid Stenosis in a Patient with Familial Hypercholesterolemia without Significant Coronary Artery Disease.

Authors:  Marcos Aurélio Lima Barros; Hygor Ferreira-Fernandes; Ingrid Cristina Rêgo Barros; Adriel Rêgo Barbosa; Giovanny Rebouças Pinto
Journal:  Case Rep Cardiol       Date:  2014-10-23

6.  Multiple large xanthomas: A case report.

Authors:  Chen Zhao; Mingxiang Kong; Li Cao; Qiong Zhang; Yong Fang; Weiwei Ruan; Xiaofan Dou; Xiaohui Gu; Qing Bi
Journal:  Oncol Lett       Date:  2016-10-18       Impact factor: 2.967

7.  Homozygous familial hypercholesterolemia: case series and review of the literature.

Authors:  Carlos H Palacio; Theresa R Harring; N Thao T Nguyen; John A Goss; Christine A O'Mahony
Journal:  Case Rep Transplant       Date:  2012-01-11
  7 in total

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