Familial Hyperchylomicronemia Syndrome in a Term Neonate

ABSTRACT: Familial hyperchylomicronemia syndrome, which is also known as type 1 hyperlipoproteinemia, is a very rare autosomal recessive disorder of lipoprotein metabolism which affects approximately one per million individuals. Familial hyperchylomicronemia is characterized by severe hypertriglyceridemia,with triglyceride level>880 mg/L. This is result of excessive accumulation of chylomicron and inherited defect in hydrolysis of circulating triglyceride. A 24-day-old male admitted to the neonatal intensive care unit with complaints of excessive crying with refusal to feed. During routine blood sampling, blood was found viscous and turned milky white after few seconds. So we diagnosed as a case of familial hyperchylomicronemia with late onset sepsis ,on the basis of high index of suspicion, high plasma triglyceride level, with second degree of early cardiac disease in family which was further genetically confirmed by whole exome sequencing, showing homozygous lipoprotein lipase gene mutation.