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Familial Hyperlipoproteinemia (see Table H-6).
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Inherited inborn error of metabolism characterized by
massive accumulation of chylomicrons and triglycerides in plasma resulting
in recurrent abdominal pain and hepatosplenomegaly.
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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.
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Mostly prevalent among the French Canadian population.
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Autosomal recessive. Gene map locus is 8p22.
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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.
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Diagnosis is confirmed by low enzyme activity and is
often first suspected by the observation of a lactescent plasma and elevated
triglyceride concentration.
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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. ...