Department of Cardiology, Gansu Provincial Hospital, Lanzhou, 730000, Gansu Province, China.
Department of Paediatrics, Soochow University, Suzhou, 215123, Jiangsu Province, China.
J Med Case Rep. 2022 Jul 26;16(1):290. doi: 10.1186/s13256-022-03488-3.
Familial hypercholesterolemia (FH) is the most commonly inherited metabolic disease and has an autosomal dominant mode of inheritance. Patients with FH usually present with high levels of low-density lipoprotein-cholesterol, xanthomas and early coronary artery disease. Children with FH are subject to developing early and enhanced atherosclerosis, leading to an increased risk of coronary events. We report here an 8-year-old patient with acute coronary syndrome (ACS) who was diagnosed with homozygous FH (HoFH) due to mutations in the low-density lipoprotein receptor (LDLR) gene and subsequently treated with percutaneous transluminal coronary angioplasty (PTCA) after filtration plasma. To the best of our knowledge, this patient is the youngest case of HoFH treated with filtration plasma followed by PTCA reported to date.
An 8-year-old Asian patient was admitted to Gansu Provincial Hospital presenting symptoms of ACS. Laboratory tests showed that the patient's cholesterol and low-density lipid levels were extremely high. An electrocardiogram (ECG) revealed sinus arrhythmia and electric axis deviation to the right, but the ECG was roughly normal. Multiple cardiac function abnormalities were diagnosed on the ECG. Multiple sites of coronary artery stenosis were determined by computed tomography angiography. DNA sequencing of exons showed a C-to-A substitution at nucleotide 126 in exon 2, resulting in a LDLR mutation in the patient and seven other family members. Following combination treatment with lipid-lowering drugs, anti-thrombosis drugs, filtration plasma and PTCA, the patient's symptoms were significantly improved and the patient discharged.
We report the rare case of a patient with ACS attributable to HoFH who was treated with PTCA following filtration plasma. The patient was shown to have clinically diagnosed and molecularly confirmed HoFH that resulted from a mutation in the LDLR gene. Children with HoFH have higher risk of early coronary events and death from myocardial infarction due to premature atherosclerosis than adults. Earlier intervention and treatment will bring great benefits to the long-term survival of pediatric patients.
家族性高胆固醇血症（FH）是最常见的遗传性代谢疾病，呈常染色体显性遗传方式。FH 患者通常表现为低密度脂蛋白胆固醇水平升高、黄色瘤和早发冠状动脉疾病。FH 患儿易发生早发且进展迅速的动脉粥样硬化，从而增加冠状动脉事件的风险。我们在此报告一例 8 岁急性冠状动脉综合征（ACS）患儿，因低密度脂蛋白受体（LDLR）基因突变而被诊断为纯合子 FH（HoFH），随后行滤过血浆联合经皮腔内冠状动脉成形术（PTCA）治疗。据我们所知，这是迄今为止报道的接受滤过血浆联合 PTCA 治疗的最年轻的 HoFH 患儿。
一名 8 岁亚洲患儿因 ACS 入住甘肃省人民医院。实验室检查示患者胆固醇和低密度脂蛋白水平极高。心电图（ECG）示窦性心律失常和电轴右偏，但 ECG 大致正常。心电图诊断为多种心脏功能异常。冠状动脉计算机断层血管造影显示多处冠状动脉狭窄。外显子 DNA 测序显示 2 号外显子第 126 位核苷酸 C 突变为 A，导致 LDLR 突变，患者和其他 7 名家族成员均携带该突变。给予降脂药物、抗血栓药物、滤过血浆和 PTCA 联合治疗后，患者症状明显改善，出院。
我们报告了一例罕见的 ACS 归因于 HoFH 患儿，该患儿接受了滤过血浆联合 PTCA 治疗。患者存在 LDLR 基因突变导致的临床诊断和分子确诊的 HoFH。HoFH 患儿因早发动脉粥样硬化导致的早期冠状动脉事件和心肌梗死死亡风险高于成人。早期干预和治疗将为儿科患者的长期生存带来巨大益处。
