Familial hyperchylomicronemia was diagnosed in a 24-day-old neonate with triglycerides >880 mg/L and confirmed by homozygous LPL gene mutation via whole exome sequencing.
This case highlights a rare presentation of familial hyperchylomicronemia syndrome in a neonate, diagnosed following the observation of viscous, milky white blood and confirmed by genetic testing.
Absolute Event Rate: 0% vs 0%
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.
Kumar et al. (Wed,) reported a other. Familial hyperchylomicronemia was diagnosed in a 24-day-old neonate with triglycerides >880 mg/L and confirmed by homozygous LPL gene mutation via whole exome sequencing.