CHYLOMICRONEMIA SYNDROME DUE TO APOPROTEIN-CII DEFICIENCY

Severe fasting hypertriglyceridemia (triglycerides >2000 mg/dl) recurrent pancreatitis, hepatosplenomegaly, eruptive xanthomas, and lipemia retinalis (chylomicronemia syndrome). Familial hyperchylomicronemia inherited as an autosomal recessive trait may be due to deficiency of apoprotein Cll which is the physiological activator of lipoprotein lipase. Homozygous patients carrying the genetic defect apoprotein Cll(Hamburg) have minimal concentrations of apoprotein Cll in hyperlipemic plasma; heterozygotes carry half normal amounts of apoprotein Cll in normolipemic plasma. The molecular defect apoprotein Cll(Hamburg) has been identified as a guanine/cytosine substitution (donor splice site mutation) in intron ll. Elevated plasma triglycerides can be lowered acutely by infusion of normal plasma (supplementation of apoprotein Cll). Long term treatment of the chylomicroneamia syndrome involves a rigid restriction of dietary fat to lower morbidity and mortality from acute pancreatitis.