CHEN Peipei, TIAN Zhuang, CHEN Wei, MA Mingsheng, LIU Xin, QIN Yan, XU Haifeng, ZHU Zhijun, ZHANG Shuyang. A Case Report of Homozygous Familial Hypercholesterolemia Liver Transplantation[J]. Journal of Rare Diseases, 2023, 2(1): 55-62. DOI: 10.12376/j.issn.2097-0501.2023.01.008
Citation: CHEN Peipei, TIAN Zhuang, CHEN Wei, MA Mingsheng, LIU Xin, QIN Yan, XU Haifeng, ZHU Zhijun, ZHANG Shuyang. A Case Report of Homozygous Familial Hypercholesterolemia Liver Transplantation[J]. Journal of Rare Diseases, 2023, 2(1): 55-62. DOI: 10.12376/j.issn.2097-0501.2023.01.008

A Case Report of Homozygous Familial Hypercholesterolemia Liver Transplantation

  • Homozygous familial hypercholesterolemia (HoFH) is a rare and serious autosomal genetic metabolic disease. Patients without intervention often die younger than 30 years old from early atherosclerotic cardiovascular disease (ASCVD)incurred by extremely high levels of low-density lipoprotein cholesterol (LDL-C). We present a case of HoFH, a child with compound heterozygous mutation in this study. The effect of conventional lipid-lowering therapy through diet control and lipid-lowering drugs was unsatisfactory. The blood-lipid purification proves effective but has poor compliance and difficult to maintain for a longer time. The patient received orthotopic liver transplantation and had been followed for 2 years, with the patient shows normal LDL-C, well growth and development. We hope the case will provide the clinician with better understanding of the diagnosis and treatment of the rare disease of HoFH.
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