Corneal arcus and xanthomas in homozygous familial hypercholesterolemia: First report from China

We report the case of a 12-year-old male who developed corneal arcus and multiple skin lesions with a 10-year history of xanthomas. The lesions appeared over his fingers, hands, elbows, knees, buttocks and feet. Laboratory studies showed a total serum cholesterol level of 752.1 mg/dL; a triglyceride...

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Autores principales: Meng, Xin, Lin, Jie, Gao, Xinxiao, Guo, Jia, Xin, Chen, Wang, Jun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2013
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3917403/
https://www.ncbi.nlm.nih.gov/pubmed/24088637
http://dx.doi.org/10.4103/0301-4738.118456
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author Meng, Xin
Lin, Jie
Gao, Xinxiao
Guo, Jia
Xin, Chen
Wang, Jun
author_facet Meng, Xin
Lin, Jie
Gao, Xinxiao
Guo, Jia
Xin, Chen
Wang, Jun
author_sort Meng, Xin
collection PubMed
description We report the case of a 12-year-old male who developed corneal arcus and multiple skin lesions with a 10-year history of xanthomas. The lesions appeared over his fingers, hands, elbows, knees, buttocks and feet. Laboratory studies showed a total serum cholesterol level of 752.1 mg/dL; a triglyceride level of 96.6 mg/dL; a low-density lipoprotein cholesterol level of 661.3 mg/dL. Findings were consistent with homozygous familial hypercholesterolemia. To our knowledge, this is the first such case to be reported from China.
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spelling pubmed-39174032014-02-19 Corneal arcus and xanthomas in homozygous familial hypercholesterolemia: First report from China Meng, Xin Lin, Jie Gao, Xinxiao Guo, Jia Xin, Chen Wang, Jun Indian J Ophthalmol Brief Communication We report the case of a 12-year-old male who developed corneal arcus and multiple skin lesions with a 10-year history of xanthomas. The lesions appeared over his fingers, hands, elbows, knees, buttocks and feet. Laboratory studies showed a total serum cholesterol level of 752.1 mg/dL; a triglyceride level of 96.6 mg/dL; a low-density lipoprotein cholesterol level of 661.3 mg/dL. Findings were consistent with homozygous familial hypercholesterolemia. To our knowledge, this is the first such case to be reported from China. Medknow Publications & Media Pvt Ltd 2013-12 /pmc/articles/PMC3917403/ /pubmed/24088637 http://dx.doi.org/10.4103/0301-4738.118456 Text en Copyright: © Indian Journal of Ophthalmology http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Brief Communication
Meng, Xin
Lin, Jie
Gao, Xinxiao
Guo, Jia
Xin, Chen
Wang, Jun
Corneal arcus and xanthomas in homozygous familial hypercholesterolemia: First report from China
title Corneal arcus and xanthomas in homozygous familial hypercholesterolemia: First report from China
title_full Corneal arcus and xanthomas in homozygous familial hypercholesterolemia: First report from China
title_fullStr Corneal arcus and xanthomas in homozygous familial hypercholesterolemia: First report from China
title_full_unstemmed Corneal arcus and xanthomas in homozygous familial hypercholesterolemia: First report from China
title_short Corneal arcus and xanthomas in homozygous familial hypercholesterolemia: First report from China
title_sort corneal arcus and xanthomas in homozygous familial hypercholesterolemia: first report from china
topic Brief Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3917403/
https://www.ncbi.nlm.nih.gov/pubmed/24088637
http://dx.doi.org/10.4103/0301-4738.118456
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