Inherited inborn error of metabolism characterized by massive accumulation of chylomicrons and triglycerides in plasma resulting in recurrent abdominal pain and hepatosplenomegaly.
Buerger-Gruetz Syndrome; Essential Familial Hyperlipemia; Exogenous Hypertriglyceridemia; Fat-Induced Hyperlipemia; Hyperchylomicronemia; Hyperlipidemia I; Hyperlipoproteinemia Type I; Idiopathic Familial Hyperlipemia; Lipoprotein Lipase Deficiency; Familial Retention Hyperlipemia.
Mostly prevalent among the French Canadian population.
Autosomal recessive. Gene map locus is 8p22.
The decrease in the enzyme activity leads to an abnormally elevated accumulation of chylomicrons in the blood associated with an increase in the triglyceride level.
Diagnosis is confirmed by low enzyme activity and is often first suspected by the observation of a lactescent plasma and elevated triglyceride concentration.
Patients affected with this disorder usually present in infancy or early childhood with complaint of abdominal pain often associated with recurrent pancreatitis and hepatosplenomegaly. Presenting symptoms in small children can be nonspecific, with irritability, fever, lower GI bleeding, diarrhea, and vomiting. Other features include the presence of lipemia retinalis, anemia, and xanthomas. Treatment consists of strictly restricted fat intake and avoidance of alcohol, steroids, estrogens, and isotretinoin, which increase triglyceride level. Cholesterol levels are normal, and the risk of cardiac disease is low.
Precautions before anesthesia
Obtain a cell blood count (CBC) and phosphatase alkaline and amylase levels to rule out acute pancreatitis.
Avoid prolonged infusion of lipidic emulsions of propofol, which increases triglyceride level.
Avoid propofol in lipid emulsions.
et al: Familial chylomicronemia (type I hyperlipoproteinemia) due to a single missense mutation in the lipoprotein lipase gene. J Clin Invest
HG: Idiopathic familial lipemia. Bull Johns Hopkins Hosp 64:279, 1939.
JH: A case of resistance to anesthesia secondary to severe hyperlipidemia. Paediatr Anaesth