familial hyperlipoproteinemia type I

fa·mil·i·al hy·per·lip·o·pro·te·in·e·mi·a type I

[MIM*238600]
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 α- and β-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.
See also: familial lipoprotein lipase inhibitor.
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