familial hyperchylomicronemia

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.

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

(tīp fă-mil'ē-ăl hī'pĕr-lip'ō-prō-tēn-ē'mē-ă)
Increased hematologic lipoprotein levels characterized by the presence of large amounts of chylomicrons and triglycerides in the plasma when the patient has a normal diet, and their disappearance on a fat-free diet. It is accompanied by bouts of abdominal pain, hepatosplenomegaly, pancreatitis, and eruptive xanthomas; autosomal recessive inheritance.
Synonym(s): familial fat-induced hyperlipemia, familial hyperchylomicronemia, familial hypertriglyceridemia (1) .

familial hyperchylomicronemia

An inherited disorder of lipoprotein metabolism characterized by elevated plasma chylomicrons and triglycerides. It is usually caused by a deficiency of lipoprotein lipase or its cofactor apolipoprotein C-II. Clinical findings include repeated episodes of pancreatitis. The blood of affected patients has a creamy or milky appearance.
References in periodicals archive ?
Familial hyperchylomicronemia can be divided into type I and V hyperlipoproteinemia.
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