Familial chylomicronemia – a rare cause of dyslipidemia in newborn
Year: 2018
Type: article
Study design: Case Report
Abstract: 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.
Source: Pediatru ro
Authors: Ioana Țieranu, Maria Gica, Adrian Stanciu, Mihaela Bălgrădean
Language: English
Subfield: Cardiology and Cardiovascular Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
OpenAlex ID: W2977403231