Thowfeek Zeenath Thaneefa Mohamed, Amarakoon Givani, Mendis Devan, Jasinge Eresha, Hooper Amanda J, Burnett John R
Department of Chemical Pathology, Lady Ridgeway Hospital for Children, Sri Lanka.
Department of Paediatrics, Faculty of Medicine and Allied Sciences, Rajarata University of Sri Lanka, Mihintale, Sri Lanka.
Clin Chim Acta. 2022 Apr 1;529:1-3. doi: 10.1016/j.cca.2022.01.016. Epub 2022 Jan 24.
Lipoprotein lipase (LPL) deficiency is an extremely rare disorder of lipid metabolism known to cause hypertriglyceridaemia in childhood. We report the incidental diagnosis of LPL deficiency in an infant presenting with an acute respiratory tract infection. The patient was initially treated for a lower respiratory tract infection, but was subsequently found to have milky appearance of the serum, with a triglyceride concentration greater than 1000 mg/dL. Clinical examination revealed hepatosplenomegaly. Genetic analysis showed that the patient was a compound heterozygote for two rare likely pathogenic LPL variants c.808C>G p.(Arg270Gly) and c.1019-3C>G. She was commenced on a low-fat diet with the addition of medium chain triglyceride formula. At follow-up, her serum triglyceride level was normal.
脂蛋白脂肪酶（LPL）缺乏症是一种极为罕见的脂质代谢紊乱疾病，已知可导致儿童期高甘油三酯血症。我们报告了一例因急性呼吸道感染就诊的婴儿被偶然诊断为LPL缺乏症的病例。该患者最初因下呼吸道感染接受治疗，但随后发现血清呈乳状，甘油三酯浓度大于1000mg/dL。临床检查发现肝脾肿大。基因分析显示，该患者是两种罕见的可能致病的LPL变异体c.808C>G p.(Arg270Gly)和c.1019-3C>G的复合杂合子。她开始食用低脂饮食，并添加中链甘油三酯配方奶粉。随访时，她的血清甘油三酯水平正常。
