家族性高胆固醇血症合并动脉粥样硬化1例并文献复习

目的提高对家族性高胆固醇血症的认识,探讨诊治方法。方法分析解放军总医院心内科收治的1例家族性高胆固醇血症患者的临床表现、各项检查及血管造影结果,并复习相关文献,总结诊治经验。结果患者为21岁男性,临床表现为黄色瘤、早发冠心病,根据其临床表现及血生化检查结果诊断为家族性高胆固醇血症。结论家族性高胆固醇血症为罕见的常染色体显性遗传病,早期发现和预防很关键,可避免致死性心血管疾病的发生。

Familial hypercholesterolemia accompanying atherosclerosis:A case report and review of literature

Objective To study the diagnosis and treatment of familial hypercholesterolemia（HF）.Methods The clinical manifestations,laboratory tests and angiography about one HF patient were retrospectively analyzed with the related literature reviewed.We hereby summarized experience in the diagnosis and treatment of HF.Results The patient was a 21-year-old male subject.He was diagnosed with HF according to his clinical manifestations as those of xanthoma and premature coronary heart disease.Conclusion HF is a rare autosomal genetic disease.Its early diagnosis and prevention are the key to the avoidance of fatal cardiovascular disease.