Liver Transplantation in a Child With Homozygous Familial Hypercholesterolemia: A Case Report and Literature Review

纯合子家族性高胆固醇血症患儿肝移植:病例报告及文献综述

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Abstract

Homozygous familial hypercholesterolemia (HoFH) is a rare inherited metabolic disorder. Meanwhile, HoFH is characterized by extremely high plasma levels of low-density lipoprotein cholesterol (LDL-C) from birth, alongside xanthomas and premature atherosclerotic cardiovascular diseases (ASCVDs). Traditional drugs such as statins have difficulty maintaining serum lipids at an ideal level. Here, we report the case of a 12-year-old child with HoFH who underwent liver transplantation. The goal of lipid reduction could not be achieved in this patient by any other means, and the patient had also experienced mild cardiovascular damage. During the 5-year post-transplant follow-up, the serum lipids were controlled in the patient, while the progression of atherosclerotic plaques was detected without the use of any lipid-lowering drugs. Additionally, we review the progress of current treatments for HoFH and discuss new lipid-lowering medications, as well as the challenges associated with liver transplantation.

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