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。其特征在于升高的胆固醇水平和正常的甘油三酯水平。家族性高胆固醇血症的儿童期表现可导致早期动脉粥样硬化斑块在动脉中沉积,并在年轻时明显增加冠心病(CHD)的风险。彻底的临床检查,包括皮肤病变等体征的识别和仔细的眼部检查,可以诊断。
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.