家族性高胆固醇血症2例病例报道

目的 探讨家族性高胆固醇血症的临床和基因特点，提高对家族性高胆固醇血症的认识。方法 对两例家族性高胆固醇血症患儿的临床特点、实验室和影像学表现、基因测序结果进行分析，并且综合文献复习。结果 2例患儿均以皮肤黄瘤和腱黄瘤为首发症状，TC和LDL-C明显升高。LDLR基因测序结果明确2例患儿均为LDLR基因突变：1例为LDLR纯合突变，另1例为LDLR杂合突变，确诊为家族性高胆固醇血症。纯合子患儿出现角膜弓、主动脉及冠状动脉壁钙化。 结论 家族性高胆固醇血症患儿的临床特点为：皮肤黄瘤和腱黄瘤、角膜弓、血管病变，TC和LDL-C明显升高。基因测序能够发现致病突变。LDLR基因纯合突变患者降脂药物治疗效果差，必要时应行肝移植术。

Familial hypercholesterolemia: two cases reports

Objective To investigate the clinical and genetic characteristics of familial hypercholesterolemia, to improve the understanding of familial hypercholesterolemia in children. Methods The clinical features, laboratory examinations, imagings, and gene sequencing results of two cases with familial hypercholesterolemia were presented and analyzed; and the related literatures were reviewed. Results The first presented symptoms of both cases are skin xanthomata and tendon xanthoma, with significantly elevated TC and LDL-C increased significantly. Analysis of LDLR gene sequencing showed both of 2 cases have LDLR gene mutation; LDLR homozygous mutation was detected in 1 case, the other had LDLR heterozygous mutation, the homozygous child presented corneal arcus, calcification of aorta and coronary arterie. Conclusion The clinical features in children with familial hypercholesterolemia include skin xanthomata and tendon xanthoma, corneal arcus, vascular lesions, elevated TC and LDL-C. Gene sequencing can find the causative mutation and confirm diagnosis. Treatment targets are extremely difficult to achieve with cholesterol-lowering drugs in homozygous FH, liver transplantation should be considered when necessary.