目的：探讨家族性高胆固醇血症( familial hypercholesterolemia, FH)的临床特点及诊治要点。方法对我院收治的1例FH临床资料进行回顾性分析。结果本例17岁女性,因活动后胸闷、气促5年,加重1个月入院。4岁时皮肤出现黄色瘤,手术治疗后复发。病程中于外院就诊,考虑先天性心脏病及高脂血症,并予降血脂治疗未见明显效果入我院。经查血脂升高,心脏及颈动脉超声检查示主动脉瓣上狭窄及颈动脉狭窄,并结合有黄色瘤病史,确诊为纯合子型FH,给予降血脂、强心、利尿、抗血小板聚集等治疗,病情好转,因拒绝血浆置换治疗,继续上述治疗,随访1年血脂控制不佳,症状反复发作。结论 FH易出现心血管并发症,预后差,早期容易漏诊,早期诊断与治疗是延缓疾病进展的关键。%Objective To explore the clinical characteristics, and key points of diagnosis and treatment of familial hypercholesterolemia ( FH) . Methods Clinical date of one patient with FH in our hospital was retrospectively analyzed, and related literature was reviewed. Results A 17-year-old female patient was admitted for chest distress and shortness of breath after exercise for 5 years and aggravated for 1 month. The patient developed xanthomas at the elbows at the age of 4 and under-went surgery. However, one year later, the xanthomas relapsed. The patient was diagnosed as having congenital heart disease and hyperglycemia before admission to our hospital. Although she had been given by, the patient failed to respond to lipid-low-ering treatment. After transfer to our hospital, her concentration of cholesterol was elevated significantly. The ultrasound ex-amination indicated aortic valve stenosis and carotid stenosis. In addition, her family members were found to have hyperglyce-mia or xanthoma, then the diagnosis of homozygous FH was made. The symptoms were alleviated after the treatment of cardio-tonic, diuretic, lipid-lowering and antiplatelet. The patient denied the LDL-apheresis. One year follow-up showed a poor con-trol of blood lipid. Conclusion Patients with homozygous FH may progress rapidly to premature cardiovascular disease. Early diagnosis and treatment of FH can help to delay the development of the disease.
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