关键词: genetic disorders hypercholesterolemia lipid metabolism disorders

来  源:   DOI:10.1016/j.jaccas.2024.102367   PDF(Pubmed)

Abstract:
We present a young boy with a diagnosis of homozygous familial hypercholesterolemia who presented with statin and ezetimibe resistance. The patient received lipoprotein apheresis at 6 years of age. His low-density lipoprotein cholesterol levels significantly were reduced by adding lomitapide and evinacumab, and his carotid plaque started to regress.
摘要:
我们介绍了一个诊断为纯合子家族性高胆固醇血症的小男孩,该男孩表现为他汀类药物和依泽替米贝耐药。患者在6岁时接受了脂蛋白单采术。他的低密度脂蛋白胆固醇水平显着降低通过添加lomitapide和evinacumab,他的颈动脉斑块开始消退.
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