Department of Pediatric Cardiology, Akdeniz University School of Medicine, Antalya, Turkey.
Department of Cardiovascular Surgery, Akdeniz University School of Medicine, Antalya, Turkey.
Balkan Med J. 2018 Mar 15;35(2):208-211. doi: 10.4274/balkanmedj.2017.0490. Epub 2017 Oct 26.
Homozygous familial hypercholesterolemia is a rare inherited metabolic disease caused by low-density lipoprotein receptor abnormality. Patients with homozygous familial hypercholesterolemia have an increased risk of cardiovascular complication that usually occurs in the first decade of life. Here, we report a 12-year-old girl with an unpredicted presentation for coronary artery disease and found to have homozygous familial hypercholesterolemia.
A 12-year-old girl was admitted to our unit with syncope. Chest X-ray showed bilateral diffuse pneumonic consolidation and mild cardiomegaly. We detected stable ST depression by electrocardiography. Echocardiography showed normal systolic functions. Troponin-1 levels were high (66 mcg/dL, upper limit: 0.04 mcg/dL). Influenza A virus DNA was detected by the respiratory viral panel. After her successful treatment for acute pneumonia and myocarditis due to Influenza A virus, her syncope attacks persisted. Marked ST elevation was observed during exercise electrocardiography. Coronary angiography showed severe occlusions in the coronary arteries. High serum levels of total cholesterol (756 mg/dL) and low-density lipoprotein-C (556 mg/dL) were noticed. She had no tendon xanthomas. Medical histories revealed that her family members were diagnosed with heterozygous familial hypercholesterolemia. A coronary bypass surgery was performed. Statin and ezetimibe treatments were started. We also planned lipid apheresis.
Children with homozygous familial hypercholesterolemia may present with symptoms of premature coronary heart disease requiring a routine lipid test and careful anamnesis.
家族性高胆固醇血症是一种罕见的遗传性代谢疾病，由低密度脂蛋白受体异常引起。家族性高胆固醇血症患者心血管并发症的风险增加，通常在生命的第一个十年发生。在此，我们报告一例 12 岁女孩，因冠状动脉疾病就诊，诊断为家族性高胆固醇血症纯合子型。
一名 12 岁女孩因晕厥入院。胸片显示双侧弥漫性肺炎性实变和轻度心脏扩大。心电图显示稳定型 ST 段压低。超声心动图显示收缩功能正常。肌钙蛋白-1 水平升高（66 mcg/dL，上限：0.04 mcg/dL）。呼吸道病毒检测板检测到甲型流感病毒 DNA。在甲型流感病毒引起的急性肺炎和心肌炎成功治疗后，她的晕厥发作仍持续存在。运动心电图显示明显的 ST 段抬高。冠状动脉造影显示冠状动脉严重阻塞。血清总胆固醇（756 mg/dL）和低密度脂蛋白-C（556 mg/dL）水平升高。她没有肌腱黄色瘤。病史显示其家族成员被诊断为杂合子家族性高胆固醇血症。进行了冠状动脉旁路手术。开始使用他汀类药物和依折麦布治疗。我们还计划进行血脂吸附。
家族性高胆固醇血症纯合子型患儿可能表现为早发性冠心病的症状，需要进行常规血脂检查和详细的病史询问。
