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Familial Hyperlipoproteinemia (see Table H-6).

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Table Graphic Jump Location
Table H-6
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At a Glance

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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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Synonyms

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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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Incidence

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Mostly prevalent among the French Canadian population.

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Genetic Inheritance

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Autosomal recessive. Gene map locus is 8p22.

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Pathophysiology

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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

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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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Clinical Aspects

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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. Other features include the presence ...

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