Chilomicronemia familială – cauză rară de dislipidemie la sugar

Familial chylomicronemia syndrome represents a rare disease affecting the lipoprotein metabolism, through decreased levels of lipoprotein lipase (LPL) or apo­li­po­pro­tein C-II, characterized also by elevated le­vels of circulating tri­gly­ce­rides. The clinical features of the disease are re­pre­sen­ted by the lipemic appearance of the patient’s serum (secondary to the high levels of cir­cu­la­ting chy­lo­microns and very low density lipoproteins), sple­no­me­galy, ab­do­minal pain – acute pancreatitis, lipemia retinalis and xan­tho­mas. The authors present the case of a 38-day-old male in­fant, with no previous history of other diseases, who was diag­nosed with familial chylomicronemia after the medical staff observed – during blood sampling for another reason – the lipemic (milky) appearance of the serum. The lipid profile analysis revealed a marked elevation of triglycerides (over the 99th percentile), supporting the diagnosis of a defect in the synthesis/metabolism of lipoproteins. Circulating lipo­pro­tein electrophoresis after 12 hours of fasting demonstrated high le­vels of chylomicrons. Using a specific diet – medium-chain tri­gly­ce­rides milk formula, resulted in rapid improvement of the serum lipid profile during follow-ups.