Dyslipidemia in Infants: Challenges in Diagnosis and Management

Dyslipidemia in infants is a rare condition characterized by abnormal levels of lipids in the blood, such as cholesterol and triglycerides. Early diagnosis poses a challenge due to nonspecific symptoms and lipid criteria differing from adults. Through two clinical cases of familial dyslipidemia (Type 1 Familial Hypercholesterolemia and Type 2b Combined Familial Hyperlipidemia), we highlight the diagnostic and therapeutic challenges encountered in infants, emphasizing the importance of a multidisciplinary approach in care and early screening. In the first case, a 3-month-old boy with a family history of dyslipidemia was diagnosed during bronchiolitis, revealing milky serum, pseudohyponatremia, and abnormal lipid profile. His Type 1 familial hyperlipidemia was confirmed by lipid electrophoresis. Despite dietary management and breastfeeding, he developed severe pancreatitis, successfully treated with intensive care. The second case involved a girl who presented at 3 months with vomiting and irritability. Laboratory tests indicated pseudohyponatremia, hematologic abnormalities, and lipid disturbances. Her Type 2b familial hyperlipidemia was confirmed by lipid electrophoresis. She responded well to a specialized diet, experiencing few pancreatitis episodes without meeting clinical or radiological severity criteria.