Indian Journal of Ophthalmology (Jan 2013)

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

  • Xin Meng,
  • Jie Lin,
  • Xinxiao Gao,
  • Jia Guo,
  • Chen Xin,
  • Jun Wang

DOI
https://doi.org/10.4103/0301-4738.118456
Journal volume & issue
Vol. 61, no. 12
pp. 770 – 771

Abstract

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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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