When blood turned to milk!!!! A baby with lipemia retinalis FP 961

1. When blood turned to milk!!!!A baby with lipemia retinalisFP 961 Dr Natasha Radhakrishnan 1 Dr Sheela Nampoothiri 1, Dr Gopal S Pillai 1, M Hoffman 2, A Schwentek 2 Amrita Institute of Medical Sciences,Kochi,Kerala 1 University Medical Center Hugstetter,Str 55,Germany 2

2. Its not often that an ophthalmologist gets to be a part of a lifesaving diagnosis and management process-this poster shares with you one such opportunity that presented to us in our practice-an experience that enlightened our knowledge and enriched our lives…. 38 day old infant • h/o fever • Hepatosplenomegaly • Protruding tongue • Right preauricular tag • Lipemic serum on routine blood tests

3. Light pink coloured vessels suggestive of lipemiaretinalis in both eyes

5. Biochemical investigations • severe fasting hypertriglyceridemia • Deranged liver function tests • Elevated pre beta lipoproteins • chylomicronemia • High hemoglobin level with low RBC count

6. Familial chylomicronemia with hypertriglyceridemia due to • Familial LPL deficiency • Familial apolipoprotein C II deficiency Treatment-Diet modification • Instituted without delay • Completely skimmed milk • Medium chain triglyceride oil added • Breast milk at night to avoid essential fatty acid deficiency • Multivitamin drops and vit E

7. MOTHER DNA ANALYSIS FATHER Heterozygous for intron1, position +3insertionT Heterozygous for Exon 9 Ser 447STOP Heterozygous for exon5, Pro 214 Ser Heterozygous for Exon 9 Ser 447STOP BABY Heterozygous for intron1, position +3insertionT Heterozygous for Exon5, Pro 214 Ser

8. Electrophoresis Electropherogram

9. 40 days later, fundus appears normal

10. Decrease of triglycerides over 2 years 8874

11. Discussion Lipemia retinalis was first described by Heyll in 1880. The condition is known to occur in cases of hyperlipemia when the fat in the blood is sufficiently emulsified to become visible in the retinal vessels .Lipemia retinalis is clinically evident in patients with triglycerides more than 2000mg/dl. Retinal vessels appear milky white and the fundus has a salmon coloured appearance as a result of scattering of light by circulating chylomicron. Both arteries and veins are milky white and can be differentiated only by their size . These changes are fully reversible and do not result in visual impairment. The fundus abnormalities, which improve as the triglyceride levels return to normal, provide a method of following the patient's course and response to therapy

12. References • 1. Fojo SS,Brewer HB. Hypertriglyceridaemia due to genetic defects in lipoprotein lipase and apolipoprotein C- II.J Intern Med 1992;231:669-77. • 2. Santamarina-Fojo S. The familial chylomicronemia syndrome. Endocrinol Metab Clin North Am, 1998; 27:551-67. • 3. Bijvoet SM, Bruin T, Kastelein JJ. The familial hyperchylomicronaemia syndrome. Neth J Med 1993; 42:36-44. • 4. Kavazarakis E, Stabouli S, Gourgiotis D, Roumeliotou K, • Traeger- Synodinos J. Bossios A et al. Severe hypertriglyceridaemia in a Greek infant: a clinical, biochemical and genetic study, Eur J Pediatr 2004; 163: 462-466. • 5. Sandhofer F. Physiology and pathophysiology of the metabolism of lipoproteins. Wien Med Wochenschr.1994; 144:286-90 (in German). • 6. Pouwels ED, Blom DJ, Firth JC, Henderson HE, Marais AD. Severe hypertriglyceridaemia as a result of familial chylomicronaemia: the Cape Town experience. S Afr Med J 2008; 98:105-8. • 7. El-Harazi SM, Kellaway J, Arora A. Lipaemia retinalis, Aust N Z J Ophthalmol. 1998; 26:255-7. • 8. Leaf DA. Chylomicronemia and the chylomicronemia syndrome: a practical approach to management. Am J Med 2008; 121:10-2. • 9. Rip J, Nierman MC, Sierts JA, Petersen W, Van den Oever K, Van Raalte D et al. Gene therapy for lipoprotein lipase defiency: working toward clinical application. Hum Gene Ther, 2005; 16:1276-86.