familial hyperlipoproteinemia type I
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.
See Also: familial lipoprotein lipase inhibitor
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