FAMILIAL HYPERCHYLOMICRONEMIA SYNDROME

Course overview

FAMILIAL HYPERCHYLOMICRONEMIA SYNDROME IS A RARE AUTOSOMAL RECESSIVE METABOLIC DISORDER CAUSED BY THE MUTATION IN LIPOPROTEIN LIPASE. IT CORRELATES WITH SIGNIFICANT MORBIDITY AND DISTRESS AMONGST THE PATIENTS. THIS ARTICLE DESCRIBES THE BACKGROUND, PATHOPHYSIOLOGY, HISTORY, AND PHYSICAL AND EVALUATION OF TYPE 1 FAMILIAL HYPERLIPIDEMIA. IT ALSO GIVES US INSIGHT INTO THE MANAGEMENT OF TYPE-1 HYPERLIPIDEMIA.