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familial hyperlipoproteinemia type I

 

Definition: hyperlipoproteinemia characterized by the presence of large amounts of chylomicrons and triglycerides in the plasma when the patient consumes a normal diet, and their disappearance on a fat-free diet; low a- and ß-lipoproteins on a normal diet, with increase on a fat-free diet; decreased plasma postheparin lipolytic activity; and low tissue lipoprotein lipase activity. It is accompanied by bouts of abdominal pain, hepatosplenomegaly, pancreatitis, and eruptive xanthomas; autosomal recessive inheritance; caused by mutation in the lipoprotein lipase gene (LPL) on chromosome 8p.

Synonym(s): Bürger-Grütz syndrome, familial fat-induced hyperlipemia, familial hyperchylomicronemia, familial hypertriglyceridemia1, idiopathic hyperlipemia

See Also: familial lipoprotein lipase inhibitor

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© Copyright 2017 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.
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