CHYLOMICRONEMIA SYNDROME DUE TO LIPOPROTE IN-LIPASE (LPL) DEFICIENCY - A POSSIBLE CAUSE OF METABOLIC EMERGENCY

Lipoprotein lipase (LPL) plays a major role in the regulation of lipid lipid metabolism. Its primary function is the hydrolysis of triglycer ide core of chylomicrons and very low density lipoproteins. In additio n, LPL activity allows the maturation of several classes of lipoprotei ns. Impaired lipolisys due to LPL deficiency causes hypertriglyceridem ia and chylomicronemia syndrome. Two primary defects of LPL activity a re known, the familial deficiencies of LPL and of apo CII, the natural cofactor of LPL. Circulating inhibitor of LPL has also been reported. Two paradigmatic cases of chylomicronemia syndrome due to familial LP L deficiency are described.