RESUMEN
Familial Chylomicronemia syndrome is a rare disorder of lipoprotein metabolism due to familial lipoprotein lipase or apolipoprotein C-II deficiency or the presence of inhibitors to lipoprotein lipase. It manifests as eruptive xanthomas, acute pancreatitis, and lipaemic plasma due to marked elevation of triglyceride and chylomicrons levels. We report a rare case of familial Chylomicronemia in a 9-month-old infant, who was diagnosed after his plasma was incidentally found to be milky. Lipid profile showed familial Chylomicronemia [Type 1 Hyperlipidemia]. The infant was started on a low fat diet and advised a regular follow-up
Asunto(s)
Humanos , Masculino , Hiperlipoproteinemia Tipo I/dietoterapia , Lipoproteínas/metabolismo , Xantomatosis , Pancreatitis , Quilomicrones , Triglicéridos , Hiperlipoproteinemia Tipo I/diagnósticoRESUMEN
Se presenta el caso clínico de una paciente portadora de una hiperlipoproteinemia tipo I controlada durante 5 años. Se describe las características clínicas y de laboratorio de esta enfermedad así como la respuesta al tratamiento dietético que es fundamental en la evolución de esta alteración metabólica tan poco frecuente