Familial chylomicronemia: A rare case report

  • S V N S Sowjanya
  • V Lakshmi
  • Karthik Thiagarajan


We report a 5-day-old neonate born out of 3rd-degree consanguinity who presented with milky blood, hepatosplenomegaly, and lipemia retinalis (fundus examination). The baby was asymptomatic, euglycemic, and did not have xanthomas. Lipid profile was altered (total cholesterol - 2340 mg/dl, triglycerides (TG) - >10,000 mg/dl, high-density lipoprotein - <5 mg/dl, lipoprotein (a) - <10.1 mg/dl, and apolipoprotein A1 - 795 mg/dl). Lipid profile of mother, father, and elder sibling were normal. The baby was started on skimmed milk powder and medium-chain TGs powder. The baby is under follow-up and lipid profile is improving.

Keywords: Chylomicronemia, Lipemia retinalis, Milky serum, Skimmed milk powder
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How to Cite
Sowjanya, S. V., Lakshmi, V., & Thiagarajan, K. (2017). Familial chylomicronemia: A rare case report. Indian Journal of Case Reports, 3(4), 211-215. Retrieved from https://atharvapub.net/IJCR/article/view/418
Case Report