表现为皮肤黄色瘤的纯合子家族性高胆固醇血症：肝移植后的反应
Homozygous familial hypercholesterolaemia presenting with cutaneous xanthomas: response to liver transplantation.
作者信息
Moyle Mignon, Tate Bruce
机构信息
Skin and Cancer Foundation, Carlton South, Victoria, Australia.
出版信息
Australas J Dermatol. 2004 Nov;45(4):226-8. doi: 10.1111/j.1440-0960.2004.00103.x.
Abstract
A 19-month-old girl with cutaneous xanthomas was diagnosed with homozygous familial hypercholesterolaemia, treated with atorvastatin, plasma exchange and finally at the age of 3.5 years, with liver transplantation. Her serum cholesterol levels fell to normal and the xanthomas regressed following liver transplantation. She remains well 17 months post transplant.
摘要
一名患有皮肤黄色瘤的19个月大女孩被诊断为纯合子家族性高胆固醇血症，先后接受了阿托伐他汀治疗、血浆置换，最终在3.5岁时接受了肝移植。肝移植后，她的血清胆固醇水平降至正常，黄色瘤消退。移植后17个月，她情况良好。
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