13岁被判“活不过30岁”，跨越万里的生命接力能否打破魔咒｜新春走基层

Core Viewpoint - The article highlights the challenges and advancements in treating a 13-year-old boy with homozygous familial hypercholesterolemia (HoFH) and coronary heart disease, emphasizing the need for innovative therapies that are currently not available in China [1][3][4]. Group 1: Patient Case and Treatment - A 13-year-old boy from Xinjiang, diagnosed with HoFH and coronary heart disease, underwent a complex coronary intervention surgery at Zhongshan Hospital, successfully alleviating his chest pain symptoms [1][3][4]. - The boy's condition is severe, with a high risk of early cardiovascular disease, and he has already experienced significant health issues due to his genetic condition [3][4]. - The surgery was expedited through collaboration with domestic manufacturers to create custom medical devices, demonstrating the urgency and complexity of his case [4]. Group 2: Current Treatment Limitations - Current treatment options for HoFH are limited, with existing cholesterol-lowering medications showing inadequate effectiveness, indicating a very low residual LDL receptor function in patients [4]. - Alternative treatments such as lipoprotein apheresis and liver transplantation present significant challenges, including high costs and surgical risks [4]. Group 3: Future Treatment Prospects - The medical team is actively pursuing new lipid-lowering therapies, including angiopoietin-like protein 3 inhibitors and ATP citrate lyase (ACLY) inhibitors, which are still in clinical research and not yet available in China [4][5]. - There is an ongoing effort to explore gene therapy as a potential long-term solution for patients with HoFH, leveraging existing research platforms at Zhongshan Hospital [5].