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Inborn error of metabolism characterized by deficiency of a cofactor necessary for activation of lipoprotein lipase. Diabetes mellitus, pancreatitis, and epigastric pain are often associated. It does not exclude the possibility of angina in early age and congestive heart failure.

Hyperlipoproteinemia Type IB.

Autosomal recessive. Mutations in the apolipoprotein C-II (APOC2) gene, which has been mapped to 19q13.2, are considered responsible for the disorder.

Apolipoprotein C-II is a cofactor for activation of lipoprotein lipase, the enzyme that hydrolyzes triglycerides in plasma and transfers fatty acids to tissues. Deficiency of apolipoprotein C-II leads to marked elevation of plasma triglycerides and chylomicronemia.

Based on clinical findings and the presence of chylomicrons in fasting plasma. Fasting triglyceride levels are characteristically greater than 10 mmol/l.

Despite hypertriglyceridemia, patients usually do not seem to be at risk for premature development of atherosclerosis. Recurrent bouts of pancreatitis are common and may result in life-threatening necrotizing pancreatitis. Eruptive xanthomas are seen in the skin, and mild hepatosplenomegaly may occur. Frequent episodes of epigastric pain are common. Patients may develop diabetes mellitus. A diet low in long-chain fatty acids can be helpful in reducing symptoms. However, a severe infantile form of apolipoprotein C-II deficiency with massive hyperchylomicronemia and severe encephalopathy has been described in a 5-week-old girl from consanguineous parents. Symptoms included lethargy, macrocephaly, marked hepatosplenomegaly, and severely hyperlipemic blood with significant hypercholesterolemia and hypertriglyceridemia. Cranial MRI revealed marked cerebral atrophy with extradural and intraocular fatty deposits. Developmental delay and other neurologic abnormalities were severe and did not improve despite appropriate diet, which resulted in normalization of the plasma lipid profile. This child was homozygous for apolipoprotein deficiency II, which explains the severity of the disease.

Patients may have diabetes mellitus. The possibility of angina pectoris occurring at an early age cannot be excluded. Congestive heart failure must be excluded and treated appropriately if present.

Anesthesia management for this condition has not been described, but no particular difficulties should be anticipated. A patient with evidence of diabetes mellitus or coronary heart disease should receive anesthetic management according to standard protocols used for each underlying medical condition.

Propofol has been associated with postoperative pancreatitis and probably should not be used in these patients.

Berardinelli-Seip Syndrome: Inherited disorder with hyperinsulinemia resulting from insulin resistance combined with lipodystrophy and acromegaloid features.

Hyperlipoproteinemia Type I: Inherited inborn error of metabolism characterized by a massive accumulation of chylomicrons and triglycerides in plasma resulting in recurrent abdominal pain and hepatosplenomegaly.

Hyperlipidemia Type IIA: Genetic disorder of lipid metabolism causing accumulation of cholesterol, thus increasing the risk of cardiovascular diseases. Hypercholesterolemia, Low-Density Lipoprotein—LDL—Receptor Disorder.

Köbberling-Dunnigan Syndrome: Genetically transmitted metabolic disorder characterized by partial lipodystrophy, insulin resistance leading to glucose intolerance, and hypertriglyceridemia. Affects children and young adults. Onset is slow, manifested by progressive ...

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