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