严重高脂血症继发血色病1例报道及相关文献复习

A Case Report of Hemochromatosis Secondary to Severe Hyperlipidemia and Review of Relevant Literature

摘要: 目的：报道高脂血症继发血色病1例，总结患者临床资料，探讨该类疾病临床特征及诊疗要点。方法：收集1例反复严重脂代谢紊乱导致肝脏铁沉积的继发性血色病患者临床资料，并对相关文献进行复习。结果：患者老年男性，以纳差、乏力、恶心为主要临床表现。实验室检查示，血脂异常(以甘油三酯极重度升高及重度高胆固醇血症为主)、重度肝功能异常、铁蛋白升高、血糖升高，上腹部MR检查示肝脏铁沉积，给予调脂及护肝治疗后，患者血脂、铁蛋白水平改善不理想。8个月后患者再次出现重度血脂代谢紊乱、肝功能异常及铁蛋白升高，上腹部MRI检查仍显示肝脏铁沉积。基因全外显子测序发现PCSK9基因3号外显子存在c.503C > T (p.Ala168Val)错义变异，加用阿利西尤单抗调脂治疗。7月后复查肝功能、血脂、铁代谢指标恢复正常，铁沉积不显著。结论：严重高脂血症继发血色病，遗传学分析有助于指导临床精准治疗。

Abstract: Objective: This study aims to report a case of hemochromatosis secondary to hyperlipidemia, summarize the patient’s clinical data, and explore the clinical characteristics and key points of diagnosis and treatment of this type of disease. Methods: The clinical data of a patient with secondary hemochromatosis who suffered from repeated severe lipid metabolism disorders leading to hepatic iron deposition were collected, and the relevant literature was reviewed in this paper. Results: The patient was an elderly male with poor appetite, fatigue, and nausea as the main clinical manifestations. Laboratory tests showed abnormal blood lipids (mainly extremely elevated triglycerides and severe hypercholesterolemia), severe liver function abnormalities, elevated ferritin, and elevated blood sugar. MRI examination of the upper abdomen showed iron deposition in the liver. After lipid-lowering and liver-protecting treatment, the patient’s blood lipid and ferritin levels did not improve satisfactorily. Eight months later, the patient again developed severe lipid metabolism disorder, abnormal liver function, and elevated ferritin. Upper abdominal MRI examination still showed iron deposition in the liver. Whole-exome sequencing of the gene revealed that there was a c.503C > T (p.Ala168Val) mis-sense mutation in exon 3 of the PCSK9 gene, and lipid- lowering treatment with alircizumab was added. After 7 months, the liver function, blood lipids, and iron metabolism indicators returned to normal, and iron deposition was not significant. Conclusion: For hemochromatosis secondary to severe hyperlipidemia, genetic analysis can help guide precise clinical treatment.