familial hypertriglyceridemia


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. Synonym(s): Bürger-Grütz syndrome, familial fat-induced hyperlipemia, familial hyperchylomicronemia, familial hypertriglyceridemia (1) , idiopathic hyperlipemia

familial hypertriglyceridemia

Metabolic disease A common–1:200 AD disorder, due to ↑ in production of TGs, cholesterol, cholic acid, with ↑ VLDL and TG transport Clinical ↑ TGs, obesity, alcohol consumption, drug therapy–β-adrenergics, diuretics, estrogens, corticosteroids Management Diet, exercise, lipid-lowering drugs–eg, clofibrate, gemfibrozil

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) .

type IV 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) In people following a normal diet plasma levels of very-low-density lipoproteins, pre-β-lipoproteins, and triglycerides are increased, but with normal levels of β-lipoproteins, cholesterol, and phospholipids; may be accompanied by abnormal glucose tolerance and susceptibility to ischemic heart disease.
Synonym(s): familial hypertriglyceridemia (2) .