Kayıkçıoğlu Meral, Kısmalı Erkan, Can Levent, Payzin Serdar
Department of Cardiology, Ege University Faculty of Medicine, İzmir, Turkey.
Department of Radiology, Ege University Faculty of Medicine, İzmir, Turkey.
Turk Kardiyol Dern Ars. 2014 Oct;42(7):599-611. doi: 10.5543/tkda.2014.09633.
Familiar hypercholesterolemia (FH) is a genetic disease characterized with extremely high levels of cholesterol leading to premature atherosclerosis. In homozygous individuals (HoFH) cardiovascular events could develop in childhood. In this article, long-term clinical experience with adult HoFH patients who are followed in Department of Cardiology, Ege University Faculty of Medicine is presented.
Seventeen HoFH patients (11 females, 6 males) who are being followed between the years 2000-2013 were included. All data including clinical characteristics, family history, lipid levels, treatment, lipid-apheresis, cardiovascular events, complications were obtained retrospectively from patient chart records.
Mean age was 31 ± 10 years at admission to our clinic. First diagnosis age was 25 ± 14. At diagnosis, mean cholesterol level was 625 ± 136 mg/dl. Admission complaints were dermatologic (41%) and ischemic symptoms (41%). A total of 3 patients (18%) were diagnosed during family screening. 65% of the patients' parents had consanguineous marriage. Xantomas was present in 59%, aortic valve pathology in 59%, and carotid artery plaques in 47%. Coronary artery disease was documented in 59%. Though all patients had indication for apheresis, 10 patients received apheresis due to high refusal rate. Age at the first apheresis was 27 ± 12 (minimum 10-maximum 42) and adherence to apheresis was 60%. With 2 years regular apheresis skin depositions were vanished, however carotid atherosclerosis and aortic pathology progressed. During the 43 ± 42 months follow-up, 4 patients died (mean age: 25 ± 5).
Diagnosis is late in HoAH. Due to the delayed treatment of lipid apheresis, atherosclerosis and aortic stenosis progress in these patients. The awareness of the physicians and knowledge of the public is warranted.
家族性高胆固醇血症（FH）是一种遗传性疾病，其特征是胆固醇水平极高，可导致早发性动脉粥样硬化。在纯合子个体（HoFH）中，心血管事件可在儿童期发生。本文介绍了伊兹密尔艾杰大学医学院心脏病科对成年HoFH患者的长期临床经验。
纳入了2000年至2013年间随访的17例HoFH患者（11例女性，6例男性）。所有数据，包括临床特征、家族史、血脂水平、治疗、血脂分离、心血管事件、并发症等，均从患者病历记录中回顾性获取。
患者入院时的平均年龄为31±10岁。首次诊断年龄为25±14岁。诊断时，平均胆固醇水平为625±136mg/dl。入院主诉为皮肤症状（41%）和缺血症状（41%）。共有3例患者（18%）在家族筛查中被诊断。65%的患者父母为近亲结婚。59%的患者有黄色瘤，59%有主动脉瓣病变，47%有颈动脉斑块。59%的患者有冠状动脉疾病记录。尽管所有患者都有进行血脂分离的指征，但由于拒绝率高，10例患者接受了血脂分离。首次进行血脂分离的年龄为27±12岁（最小10岁 - 最大42岁），血脂分离的依从率为60%。经过2年的定期血脂分离，皮肤沉积物消失，但颈动脉粥样硬化和主动脉病变仍有进展。在43±42个月的随访期间，4例患者死亡（平均年龄：25±5岁）。
HoAH的诊断较晚。由于血脂分离治疗延迟，这些患者的动脉粥样硬化和主动脉狭窄仍在进展。医生的意识和公众的认知都有待提高。
