Department of Paediatrics University College of Medical Sciences and Guru Teg Bahadur Hospital, Delhi, India.
Department of Dermatology, University College of Medical Sciences and Guru Teg Bahadur Hospital, Delhi, India.
Pediatr Endocrinol Diabetes Metab. 2021;27(3):209-212. doi: 10.5114/pedm.2021.107714.
Familial hypercholesterolemia is a rare genetic disease, although it is amongst the commonest dyslipidemias. It characterized by raised cholesterol levels and normal triglyceride levels. Childhood presentation of familial hypercholesterolemia can cause early atherosclerotic plaque deposition in arteries and a markedly increased risk of coronary heart disease (CHD) at a young age. A thorough clinical examination, including identification of signs like cutaneous lesions and careful eye examination, can clinch the diagnosis.
家族性高胆固醇血症是一种罕见的遗传性疾病，尽管它是最常见的血脂异常之一。其特征是胆固醇水平升高和甘油三酯水平正常。家族性高胆固醇血症在儿童期的表现可导致动脉粥样硬化斑块的早期沉积，并显著增加年轻时患冠心病（CHD）的风险。全面的临床检查，包括识别皮肤损伤等体征和仔细的眼部检查，有助于确诊。
