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.
基金:
National Natural Science Foundation, ChinaNational Natural Science Foundation of China [81170793]; Beijing Natural Science Foundation, BeijingBeijing Natural Science Foundation [7092016]; China Program 215 of Beijing Municipal Health Bureau, Beijing, China [2009-3-345]
第一作者机构:[1]Capital Med Univ, Dept Ophthalmol, Beijing Anzhen Hosp, Beijing 100029, Peoples R China;
通讯作者:
通讯机构:[1]Capital Med Univ, Dept Ophthalmol, Beijing Anzhen Hosp, Beijing 100029, Peoples R China;[3]Capital Med Univ, Dept Ophthalmol, Beijing Anzhen Hosp, 2nd Anzhen Rd, Beijing 100029, Peoples R China
推荐引用方式(GB/T 7714):
Meng Xin,Lin Jie,Gao Xinxiao,et al.Corneal arcus and xanthomas in homozygous familial hypercholesterolemia: First report from China[J].INDIAN JOURNAL OF OPHTHALMOLOGY.2013,61(12):770-771.doi:10.4103/0301-4738.118456.
APA:
Meng, Xin,Lin, Jie,Gao, Xinxiao,Guo, Jia,Xin, Chen&Wang, Jun.(2013).Corneal arcus and xanthomas in homozygous familial hypercholesterolemia: First report from China.INDIAN JOURNAL OF OPHTHALMOLOGY,61,(12)
MLA:
Meng, Xin,et al."Corneal arcus and xanthomas in homozygous familial hypercholesterolemia: First report from China".INDIAN JOURNAL OF OPHTHALMOLOGY 61..12(2013):770-771