Corneal arcus and xanthomas in homozygous familial hypercholesterolemia: First report from China
Xin Meng1, Jie Lin2, Xinxiao Gao1, Jia Guo1, Chen Xin1, Jun Wang1
1 Department of Ophthalmology, Beijing Anzhen Hospital, Capital Medical University, Beijing, China
2 The Key Laboratory of Remodeling-related Cardiovascular Diseases, Ministry of Education, Beijing Anzhen Hospital, Capital Medical University, Beijing Institute of Heart Lung and Blood Vessel Diseases, Beijing, China
Department of Ophthalmology, Beijing Anzhen Hospital, Capital Medical University, 2nd Anzhen Road, Chaoyang District, Beijing, 100029
Source of Support: Supported by National Natural Science Foundation (No. 81170793), China Beijing Natural Science Foundation (No. 7092016), Beijing, China Program 215 of Beijing Municipal Health Bureau (No. 2009.3.345), Beijing, China., Conflict of Interest: None
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.