familial hyperlipoproteinemia
- familial hyperlipoproteinemia
- an inherited hyperlipoproteinemia, classified on the basis of the type I–V phenotypes described in the accompanying table. For any given phenotype, the term is frequently used loosely to denote either the phenotype or any or all of the genetic disorders causing the phenotype. However, the latter usage is frequently imprecise or inaccurate because a single phenotype may have multiple causes and a single genetic disorder may result in multiple phenotypes.
Medical dictionary.
2011.
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Familial hypercholesterolemia — Classification and external resources Xanthelasma palpebrarum, yellowish patches consisting of cholesterol deposits above the eyelids. These are more common in people with FH. ICD … Wikipedia
familial hypercholesterolemia — n a metabolic disorder that is caused by defective or absent receptors for LDLs on cell surfaces, that is marked by an increase in blood plasma LDLs and by an accumulation of LDLs in the body (as in connective tissue) resulting in xanthomas,… … Medical dictionary
familial apo C-II deficiency — familial apolipoprotein C II deficiency an autosomal recessive disorder caused by mutations in the APOC2 gene (locus: 19q13.2), leading to a lack of apo C II, a necessary cofactor for lipoprotein lipase. It results in familial… … Medical dictionary
hyperlipoproteinemia — An increase in the lipoprotein concentration of the blood. acquired h. nonfamilial h. that develops as a consequence of some primary disease, such as thyroid deficiency. familial h. a group of diseases c … Medical dictionary
familial hypertriglyceridemia — a genetically heterogenous, autosomal dominant disorder of lipoprotein metabolism characterized by mildly elevated triglycerides and very low density lipoproteins, thus having a type IV hyperlipoproteinemia phenotype but lacking other biochemical … Medical dictionary
familial hyperchylomicronemia — an inherited disorder of lipoprotein metabolism characterized by elevated plasma chylomicrons and triglycerides and manifested clinically by episodic abdominal pain and pancreatitis, cutaneous xanthomas, lipemia retinalis, and hepatosplenomegaly … Medical dictionary
familial combined hyperlipidemia — a genetically heterogeneous, autosomal dominant disorder of lipoprotein metabolism manifest in adulthood as either hypercholesterolemia (type II a hyperlipoproteinemia phenotype), hypertriglyceridemia (type IV hyperlipoproteinemia phenotype), or… … Medical dictionary
familial dysbetalipoproteinemia — an inherited disorder of lipoprotein metabolism caused by mutations in the APOE gene (locus: 19q13.2), which encodes apolipoprotein E (apo E), that result in defective binding of apo E to lipoprotein receptors. It is characterized biochemically… … Medical dictionary
familial fat-induced hyperlipemia — persistently elevated blood chylomicrons after ingestion of fat; it is characteristic of disorders with a type I hyperlipoproteinemia phenotype and is sometimes used as a synonym for this phenotype or genetic disorders causing it … Medical dictionary
essential familial hyperlipemia — a term used to describe an inherited disorder causing a type I hyperlipoproteinemia phenotype or the phenotype itself … Medical dictionary
