Severe hypertriglyceridemia in a neonate with apolipoprotein A deficiency

A report describes a case of a 2-day-old male neonate born to consanguineous parents who presented with yellowish skin. The mother suffered moderate hypertriglyceridemia. No other siblings had a history of any chronic diseases. 

General inspection revealed no significant findings. The vital signs, Cardiac, and chest examinations were all normal. Testing for jaundice revealed neonatal jaundice as the cause of yellow skin discoloration, which needed no treatment apart from follow-up. However, blood examination revealed his blood to be milky; hence, a blood lipid profile test was conducted, which showed highly elevated triglyceride levels in multiple checkups, high very-low-density lipoprotein level, high level of low-density lipoprotein, and a low level of high-density lipoprotein.

Additional laboratory diagnosis demonstrated apolipoprotein A1 deficiency and a normal level of apolipoprotein B. The patient remained under close monitoring and received a statin tablet of 0.25 mg twice daily, a formula diet (Monogen – Nutricia) with low triglycerides and rich in medium-chain triglycerides (MCT), and 1 ml Omega-3 syrup twice daily. After this, he dramatically responded as serum triglyceride dropped to 175 mg/dl. The patient then received a 50% MCT formula and Gemfibrozil (a triglyceride-lowering agent). He showed no symptoms in the first two months of his life, apart from an upper respiratory tract flu-like illness. On a 9-month follow-up, the patient normally thrived and had good feeding and typical developmental milestones.

Mohammed BA, Hasan KM, Najmadden ZB, et al. Successful management of severe hypertriglyceridemia in a neonate with apolipoprotein A deficiency; a case report with literature review. Barw Medical Journal. 2023;1(1). doi: 10.58742/bmj.v1i1.16.