An Unusual but Treatable Case of Familial Hyperlipidemia: Diagnosis and Treatment

Abstract

In children, hyperlipidemia is becoming a more common risk factor, along with the global obesity epidemic. Lipid disorders can develop either independently of an underlying disease or as a result of it. The primary dyslipidemia are associated with overproductions/or impaired removal of lipoprotein. The latter defect can be induced by an abnormality in either the lipoprotein itself or in the lipoprotein receptor. A 2 month old male baby was found to have highly viscous and milky serum. Triglycerides were 13,292 mg% and cholesterol was 2,200 mg/dl. No dysmorphic features were present. The child had xanthomas, hepatosplenomegaly, and anaemia. First maternal cousin had a history of hyperlipidemia that was positive. The lipid profile of the index case's parents was normal. The kid was given iron drops, medium chain fatty acids, and lipid-lowering medications. As the risk of pancreatitis and the frequency of hospital admissions are greatly reduced, early diagnosis and medical intervention with lipid-lowering medications and dietary modification, at the time of diagnosis, can improve the prognosis and maintain a nearly normal lifestyle for affected children.