International Journal of Medical Laboratory Research (IJMLR)

AN INFANT PRESENTING WITH MILKY SERUM: A RARE CASE REPORT

​

Varsha S, Shubha HV, Vivek TG, Vijaya C

​

ABSTRACT: Lipid disorders can occur either as primary event or secondary to an underlying disease. Primary dyslipidemias are associated with overproduction or impaired removal of lipoprotein. An abnormality in the lipoprotein itself or in the lipoprotein receptor induces impaired removal of lipoprotein. Hypertriglyceridemia is defined as having plasma triglyceride above the 95th percentile for age and sex. It is a rare disorder in childhood. We present a case of six months old male infant who was admitted in our hospital with the history of anemia. Infant was detected to have highly viscous and milky serum during the sampling of blood coincidentally. The serum triglyceride and cholesterol levels were markedly raised. There were no typical signs of hyperlipidemia like growth failure, dysmorphic features, hepatosplenomegaly, eruptive cutaneous xanthomas or lipemia retinalis. There was also no positive family history of hyperlipidemia. A clinical diagnosis of Type I hypertriglyceridemia was made and the infant was put on lipid lowering drugs and iron drops. Infant responded well to the treatment. Hemoglobin levels improved with the improving lipid profile parameters. Early diagnosis and intervention can therefore, improve the prognosis by reducing the complications and preventing the premature death.

 

KEY WORDS: Dyslipidemia, Hypertriglyceridemia, Milky serum, Anemia, Familial Chylomicronemia Syndrome, Hyperlipidemia

​

REFERENCES:

1. Brunzell JD, Miller NE, Alaupovic P, St Hilaire RJ, Wang CS, Sarson DL, Bloom SR, Lewis B. Familial chylomicronemia due to a circulating inhibitor of lipoprotein lipase activity. J Lipid Res. 1983 ;24,1:12-9.

2. Hegele RA. Monogenic dyslipidemias: window on determinants of plasma lipoprotein metabolism. . 2001;69,6:1161-77.

3. Hodis HN, Mack WJ, Krauss RM, Alaupovic P. Pathophysiology of triglyceride-rich lipoproteins in atherothrombosis: clinical aspects. Clin Cardiol. 1999 Jun;22,6 Suppl:II15-20

4. Feoli-Fonseca JC, Lévy E, Godard M, Lambert M. Familial lipoprotein lipase deficiency in infancy: clinical, biochemical, and molecular study. J Pediatr. 1998;133,3:417-23.

5. Labossiere R, Goldberg IJ. Management of hypertriglyceridemia. Therapeutic lipidology. Totowa: Humana Press; 2008. p. 201–20.

6. Berglund L, Brunzell JD, Goldberg AC, Goldberg IJ, Sacks F, Murad MH, Stalenhoef AF; Endocrine society. Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. 2012 Sep;97(9):2969-89. doi: 10.1210/jc.2011-3213. Erratum in: J Clin Endocrinol Metab. 2015 ;100,12:4685.

7. Fredrickson DS and Lees RS. “Familial hyperlipoproteinemia”. In: Stanbury JB, Wyngaarden JB, Fredrickson DS, editors. The metabolic basis of inherited disease. New York: McGrawHill;1966. p.429.

8. Rotchford A, Newman DK, Moore AT, Flanagan DW, Miles R. Lipemia retinalis in a premature infant with type I hyperlipoproteinemia. Eye. 1997;11:940-1.

9. Reina M, Brunzell JD, Deeb SS. Molecular basis of familial chylomicronemia: mutations in the lipoprotein lipase and apolipoprotein C-II genes. J Lipid Res. 1992 ;33,12:1823-32.

10. Sugandhan S, Khandpur S, Sharma VK. Familial chylomicronemia syndrome. Pediatr Dermatol. 2007;24,3:323-5.

11. Yuan G, Al-Shali KZ, Hegele RA. Hypertriglyceridemia: its etiology, effects and treatment. CMAJ. 2007;176,8:1113-20.

12. Chaurasiya OS, Kumar L, Sethi RS. An infant with milky blood : an unusual but treatable case of familial hyperlipidemia. . 2013;28,2:206-9.

13. Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults. Executive Summary of The Third Report of The National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, And Treatment of High Blood Cholesterol In Adults (Adult Treatment Panel III). JAMA. 2001 16;285,19:2486-97.

14. Khajik Sirob Yaqob. “High Lipemic Serum (Milky Serum): A Case Report”. . 2017;4(2):45-8.

15. Santamarina-Fojo S. The familial chylomicronemia syndrome. Endocrinol Metab Clin North Am. 1998;27,3:551-67.