Jain Mili, Ali Wahid, Singh Brijendra Bahadur, Verma Nishant, Kumar Ashutosh
Assistant Professor, Department of Pathology, King George's Medical University, Lucknow 226003, India, Phone: +9793546090, Fax: +0522-2257580, E-mail:
Department of Pathology, King George's Medical University, Lucknow, India.
J Pediatr Endocrinol Metab. 2018 Jul 26;31(7):821-822. doi: 10.1515/jpem-2018-0171.
Background Hypertriglyceridemia thalassemia syndrome is a rare entity with an unknown pathogenetic link. Case presentation We report a case of an 8-month-old female with thalassemia major and increased triglyceride (TG) levels. The clinical features were as in classical thalassemia except for a white discoloration of the plasma. After exclusion of familial triglyceridemia and secondary causes (hypothyroidism, nephrotic syndrome, drugs etc.), a diagnosis of hypertriglyceridemia thalassemia syndrome was made. Conclusions The high levels of TG in these patients are associated with oxidative stress and higher risk of acute pancreatitis and coronary diseases. An early recognition is thus essential. In our patient, the levels reduced after a transfusion therapy similar to previous reports.
背景 高甘油三酯血症地中海贫血综合征是一种罕见疾病，其发病机制尚不清楚。病例报告 我们报告一例8个月大的重型地中海贫血女性患者，其甘油三酯（TG）水平升高。除血浆呈白色外，临床特征与经典地中海贫血相同。在排除家族性甘油三酯血症和继发性病因（甲状腺功能减退、肾病综合征、药物等）后，诊断为高甘油三酯血症地中海贫血综合征。结论 这些患者的高TG水平与氧化应激以及急性胰腺炎和冠心病的较高风险相关。因此早期识别至关重要。在我们的患者中，输血治疗后水平下降，与先前报道相似。
