FAMILIAL CHYLOMICRONEMIA: CLINICAL CASE REPORT

Abstract

Familial chylomicronemia syndrome (FCS) is a rare genetic disorder estimated to affect 1-2 individuals per million and it's caused by the deficiency of lipoprotein lipase, causing elevated triglycerides and chylomicrons in the plasma. Dietary modification with a very-low-fat diet is the main management of FCS. In Brazil there are few studies about the impact of diet in these conditions. Therefore, the present research aimed to describe the diet therapy adopted for a patient with a rare genetic disorder, contributing to future treatments and guiding the nutritional approach in similar cases. Data were collected through electronic medical records after approval by the Ethics Committee and signature of the consent. The patient was admitted at 2 months old, on exclusive breastfeeding and with triglycerides of 33280 mg/dL (RV: < 75 mg/dL). Breastfeeding was discontinued and a diet with skimmed cow's milk plus carbohydrate module and medium-chain triglycerides was initiated. After dietary and drug interventions for 17 days, the triglyceride level dropped to 156 mg/dL. During outpatient follow-up, he developed cow's milk protein allergy. Milk was excluded from the diet and food introduction was initiated. He is currently on a low-fat diet, a lipid profile with triglycerides below 1.000 mg/dL and adequate growth. Nutritional monitoring is important for the treatment of FCS to avoid complications and improve the patients' quality of life. Appropriate dietary management and periodic evaluation by professionals trained to treat rare diseases are necessary.