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

Farlex Partner Medical Dictionary © Farlex 2012

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) .

Medical Dictionary for the Health Professions and Nursing © Farlex 2012

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References in periodicals archive

The differential diagnosis of mixed hyperlipidemia also includes familial combined hyperlipidemia (FCHL), familial dysbetalipoproteinemia, and familial hypertriglyceridemia.

(10) TABLE 2 Primary hyperlipidemia Genetic disorder (Frederickson type) Typical clinical findings Familial lipoprotein lipase Eruptive xanthomas, deficiency (type I) hepatosplenomegaly, pancreatitis Familial apoprotein C-II Eruptive xanthomas, deficiency (type I) hepatosplenomegaly, pancreatitis Familial combined Coronary or peripheral hyperlipidemia (type IIb) atherosclerosis Familial Palmar and tuberous xanthomas, dysbetalipoproteinemia (type coronary or peripheral III) atherosclerosis Familial hypertriglyceridemia Eruptive xanthomas (type V) (type IV or V) Adapted from: Rader DJ, Hobbs HH.

The work-up for mixed hyperlipidemia: a case study: this case demonstrates that a history, physical exam, and laboratory studies are all needed to determine if the disorder is primary, secondary, or both

However, familial hypertriglyceridemia, which has the sma degree of elevated triglycerides, demonstrates no increased association with cardiovascular disease.[7] Isolated low levels of high-density lipoprotein (HDL) cholesterol is a common lipid disorder and is a well-documented risk factor for early coronary artery disease.[3,7] Subjects on vegetarian and low-fat diets and those with certain inherited syndromes, however, both of whom have low HDL cholesterol,[3] have not shown an increased risk of coronary heart disease.

Prevalence of hypertension, dyslipidemia, and dyslipidemic hypertension