Soumya Nagaraja
Brookdale University Hospital and Medical center
USA
Title: Infant with milky blood: A rare case of Familial Chylomicronemia presenting with Infantile Eruptive Xanthoma
Biography
Biography: Soumya Nagaraja
Abstract
Hypertriglyceridemia with significant elevation in triglycerides are becoming increasingly common in American children who are obese and have sedentary lifestyle. But Genetic disorders, which cause hypertriglyceridemia in infants, are very rarely reported4. The latter defect can be induced by an abnormality either in the lipoprotein itself, Lipoprotein lipase deficiency or lipoprotein receptor defect.
Here we report a 6 weeks old female infant of Middle Eastern decent who presented with fever, cough and nasal congestion for 1 week. Physical examination was significant only for eruptive Xanthoma present around the right eyes. During blood draw for sepsis screen, patient noted to be having pink milky blood3. Baby was evaluated for sepsis and acquired causes for hyperlipidemia as the baby had Eruptive Xanthomas. Though the sepsis screen was not significant. The lipid profile was alarming with very high cholesterol of 975mg/dl (normal value: 120-200mg/dl) and triglycerides 1580mg/dl ( normal value: 40-150mg/dl), HDL 6mg/dl ( normal value 60-80mg/dl). Ophthalmology examination was significant for Lipemia Retinalis. Ultrasound abdomen done in view of pancreatitis due to hypertriglyceridemia was reported normal. EKG and Echo was also normal. Further evaluation of the parents and siblings revealed that the father and the older sister who is 6 years old also had pink milky blood with increase in cholesterol and triglycerides, which was undiagnosed.
Due to the presence of Infantile Xanthomas very high cholesterol, hypertriglyceridemia and familial presentation2, Further evaluation of genetic causes for hyperlipidemia was done. Genetic analysis showed a T108R mutation in GPIHBPI gene suggestive of Chylomicronemia due to LPL deficiency5. Initially mother was advised exclusive breastfeeding with modification in her diet. This induced as sharp increase in triglycerides. Thus breastfeeding was discontinued. Baby was started on special formula with medium chain triglycerides oil. After 8 months, there has been a substantial decrease in the cholesterol to 145mg/dl and triglyceride to 812mg/dl without administering any lipid lowering medications. The Eruptive Xanthoma spontaneously resolved as the cholesterol and triglycerides showed decreasing trend. The child continues to closely follow with cardiologist, gastroenterologist and the lipid clinic as Chylomicronemia is associated with increased incidence of premature coronary vascular disease, pancreatitis and death. This case is being presented because of its uncommon presentation in infant. The use of lipid lowering medications in infants has not been studied because of rarity and hence much data is not available about treating familial hypercholesterolemia and hypertriglyceridemia in infants1. The photos of the patient cannot be published, as parents did not consent for the photo due to religious reasons. Biopsy of the Cutaneous Xanthoma could not be performed due to cosmetic reasons as lesions were very near to the eyes. The photo of the milky blood is attached.