Hyperlipoproteinemia Type Ia

At a glance

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

Synonyms

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.

Incidence

Mostly prevalent among the French Canadian population.

Genetic inheritance

Autosomal recessive. Gene map locus is 8p22.

Pathophysiology

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

Diagnosis is confirmed by low enzyme activity and is often first suspected by the observation of a lactescent plasma and elevated triglyceride concentration.

Clinical aspects

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.

Anesthetic considerations

Avoid prolonged infusion of lipidic emulsions of propofol, which increases triglyceride level.

Pharmacological implications

Avoid propofol in lipid emulsions.

References