# Exchange Transfusion: A Good Option for the Acute Treatment of Familial Chylomicronemia Syndrome in the Neonatal Period

## TL;DR

Exchange transfusion is a safe and effective acute treatment for a rare lipid disorder in newborns when other methods fail.

## Contribution

This case report highlights the use of exchange transfusion as a viable treatment for neonatal familial chylomicronemia syndrome.

## Key findings

- Exchange transfusion rapidly reduced triglyceride levels from 5100 mg/dL to 592 mg/dL in a neonate.
- The patient's respiratory symptoms resolved after the exchange transfusion.
- Dietary therapy with medium-chain fatty acids is effective for long-term management of FCS.

## Abstract

Familial chylomicronemia syndrome (FCS) is one of the rare causes of hypertriglyceridemia. Plasmapheresis is recommended in patients with triglyceride levels greater than 2000 mg/dL. However, plasmapheresis is difficult to perform in most centers due to technical inadequacies in the neonatal period. There are some reports in the literature on the efficacy of exchange transfusion.

The index case involves a 20-day-old male patient who was admitted to the emergency department for restlessness and poor feeding. He was born at term with a birth weight of 4000 g. He was exclusively breastfed. The patient was taken to the neonatal intensive care unit due to his plasma being in the form of excessive lipemia. The first measurable triglyceride level was 5100 mg/dL (57.6 mmol/L). Breast milk was restricted, and intravenous hydration was started. However, his triglyceride level did not decrease despite this treatment. Other laboratory values could not be read due to excessive lipemic serum. On the third day of hospitalization, an exchange transfusion was decided upon in this case due to the development of respiratory distress (oxygen support, tachypnea). After exchange transfusion, the patient's triglyceride level reduced dramatically to 592 mg/dL (6.6 mmol/L), and his respiratory symptoms resolved.

The aim of this case report is to demonstrate that exchange transfusion therapy is a safe and effective treatment modality in the neonatal period for the acute management of FCS. Furthermore, dietary therapy restricted to long-chain fatty acids combined with medium-chain fatty acid supplementation is highly effective in the chronic management of these patients.