Department of Cardiovascular Medicine, Asyut University Hospital, Asyut 71111, Egypt.
J Clin Lipidol. 2013 Nov-Dec;7(6):683-8. doi: 10.1016/j.jacl.2013.08.002. Epub 2013 Aug 29.
Two young Egyptian women with homozygous familial hypercholesterolemia (HoFH) were diagnosed after the appearance of vascular complications despite the presence of family history and suggestive clinical features. The first patient was treated by repeated surgical excisions of disfiguring tendon xanthomas diagnosed as "lipomas". The second patient, presenting with embolic ischemia, had an amputation of the forearm and repeated reconstructive surgical procedures. Each patient was diagnosed as HoFH after presenting with typical angina to a cardiologist. The first patient had severe aortic stenosis, left main and multi-vessel coronary artery disease, and died at age 21 years. The second patient had multivessel coronary artery disease that was treated by Percutaneous Coronary Intervention (PCI) with drug-eluting stents. These cases demonstrate that the delayed diagnosis of xanthomas and familial inheritance characteristic of HoFH leads to atherosclerosis and aortic stenosis early in life.
两名埃及年轻女性被诊断出患有纯合子家族性高胆固醇血症（HoFH），尽管存在家族史和提示性临床特征，但仍出现了血管并发症。第一例患者因“脂肪瘤”而进行了多次手术切除畸形腱黄瘤的治疗。第二例患者因栓塞性缺血而进行了前臂截肢和多次重建手术。每位患者在出现典型心绞痛后都被心内科医生诊断为 HoFH。第一例患者有严重的主动脉瓣狭窄、左主干和多支冠状动脉疾病，并于 21 岁时死亡。第二例患者有多发冠状动脉疾病，经药物洗脱支架经皮冠状动脉介入治疗（PCI）。这些病例表明，黄瘤的延迟诊断和 HoFH 的家族遗传特征导致了生命早期的动脉粥样硬化和主动脉瓣狭窄。
