Bensabbahia Dalal, El Achiwi Meriem, Atrassi Meriem, Abkari Abdelhak, Widad Gueddari
Department of Pediatrics 3, Pediatric Gastroenterology and Hepatology Unit, Abderrahim Harouchi Mother and Child Hospital, Ibn Rochd University Hospital, Casablanca, MAR.
Department of Pediatric Emergency Medicine, Abderrahim Harouchi Mother and Child Hospital, Ibn Rochd University Hospital, Casablanca, MAR.
Cureus. 2025 Jun 17;17(6):e86219. doi: 10.7759/cureus.86219. eCollection 2025 Jun.
Familial hypercholesterolemia (FH) is a common autosomal dominant disorder characterized by markedly elevated low-density lipoprotein (LDL)-cholesterol levels and an increased risk of premature cardiovascular disease. The homozygous form, which is much rarer and more severe, manifests in early childhood with extremely high LDL-cholesterol levels and early-onset atherosclerosis. We report the case of a seven-year-old girl, born to consanguineous parents, presenting with tuberous and tendinous xanthomas. Her lipid profile revealed severe hypercholesterolemia (total cholesterol: 7.5 g/L; LDL-C: 6.82 g/L), low high-density lipoprotein-cholesterol (HDL-C) (0.29 g/L), and normal triglycerides. Echocardiography showed atheromatous lesions in the aortic arch. Molecular analysis identified a pathogenic homozygous mutation in the LDLR gene. Treatment with atorvastatin followed by ezetimibe was initiated, along with dietary and lifestyle modifications. Follow-up showed moderate regression of the atheromatous lesions. A six-month follow-up plan was established, and LDL apheresis was considered. This case highlights the importance of early screening, genetic confirmation, and intensive multidisciplinary management to prevent premature cardiovascular complications in children with homozygous familial hypercholesterolemia.
家族性高胆固醇血症（FH）是一种常见的常染色体显性疾病，其特征为低密度脂蛋白（LDL）胆固醇水平显著升高以及早发性心血管疾病风险增加。纯合子形式更为罕见且病情更严重，在儿童早期表现为极高的LDL胆固醇水平和早发性动脉粥样硬化。我们报告了一例七岁女孩的病例，其父母为近亲结婚，患儿出现结节性和肌腱性黄色瘤。她的血脂谱显示严重高胆固醇血症（总胆固醇：7.5 g/L；LDL-C：6.82 g/L）、低高密度脂蛋白胆固醇（HDL-C）（0.29 g/L）且甘油三酯正常。超声心动图显示主动脉弓有动脉粥样硬化病变。分子分析在LDLR基因中鉴定出一个致病性纯合突变。开始使用阿托伐他汀随后加用依折麦布进行治疗，并同时进行饮食和生活方式调整。随访显示动脉粥样硬化病变有中度消退。制定了为期六个月的随访计划，并考虑进行LDL血液成分分离术。该病例强调了早期筛查、基因确诊以及强化多学科管理对于预防纯合子家族性高胆固醇血症患儿过早出现心血管并发症的重要性。
