CAJ | 학술논문

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.
목적제고대가족성고담고순혈증적인식,탐토진치방법.방법분석해방군총의원심내과수치적1례가족성고담고순혈증환자적림상표현、각항검사급혈관조영결과,병복습상관문헌,총결진치경험.결과환자위21세남성,림상표현위황색류、조발관심병,근거기림상표현급혈생화검사결과진단위가족성고담고순혈증.결론가족성고담고순혈증위한견적상염색체현성유전병,조기발현화예방흔관건,가피면치사성심혈관질병적발생.
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.