Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020473 (hyperlipidemia)
 15,891 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Disorders of lipid metabolism, either hyperlipidemia or hypolipidemia, are associated with the formation of corneal opacities. Corneal arcus, the most commonly encountered peripheral corneal opacity, is frequently associated with abnormal serum lipid levels, but may occur without any predisposing factors. Reports also have linked corneal arcus with alcoholism, diabetes mellitus and atherosclerotic heart disease. Unilateral arcus is a rare entity that is associated with carotid artery disease or ocular hypotony. Diffuse corneal opacities associated with hypolipidemic disorders such as LCAT deficiency, fish eye disease and Tangier disease, may be the initial manifestation of these disorders and puts the ophthalmologist in a position to make an early diagnosis. Corneal arcus, along with a central corneal opacity, is seen in Schnyder's crystalline stromal distrophy. The association of the disorder with a dyslipidemia remains controversial. A review of lipid metabolism, corneal arcus and several disorders of lipid metabolism that affect the cornea are presented.
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PMID:The cornea and disorders of lipid metabolism. 192 41

Hepatic diseases differ from most other causes of secondary dyslipidaemia in that the circulating lipoproteins are not only present in abnormal amounts but they frequently also have abnormal composition, electrophoretic mobility and appearance. Pre-beta and alpha bands can be absent on electrophoresis in all types of liver disease although material in the VLDL and HDL ranges can be isolated in the ultracentrifuge. Cholestatic liver disease has been the most extensively studied and the hyperlipidaemia can be extreme with marked elevations of free cholesterol and phospholipids. This results largely from the presence of LP-X, an abnormal LDL, with a vesicular structure that appears in rouleaux formation under the electron microscope. It is virtually specific for cholestasis and familial LCAT deficiency. The LDL, however, is heterogeneous and may also contain a large triglyceride-rich particle (LP-Y) as well as more normal-looking particles, which are none the less depleted in cholesteryl esters and rich in triglycerides. Indeed, when patients with cholestasis are hypertriglyceridaemic the excess triglyceride is to be found predominantly in these two LDL fractions rather than in VLDL. HDL in cholestasis may contain disc-like particles, similar to those newly secreted by the liver and intestine, as well as more normal-looking spherical particles. In extrahepatic obstruction concentrations of HDL and its major apolipoproteins, apoAI and apoAII, are frequently reduced, although a subfraction rich in apoE is often found. In all but the latest stages of chronic intrahepatic cholestasis due to primary biliary cirrhosis, however, HDL, especially HDL2, concentrations are increased, probably due to the presence of a circulating inhibitor of HL. Many of these lipoprotein changes found in cholestasis resemble those of familial LCAT deficiency, although the hyperlipidaemia is not usually so severe in the latter condition. Indeed, in patients with cholestasis but well-preserved LCAT activity many of the characteristic lipoprotein changes, such as LP-X, LP-Y and discoidal HDL, may not be seen. In acute hepatocellular disease, such as alcoholic or viral hepatitis, it is not unusual for the patient to go through a cholestatic phase and many of the same lipoprotein changes may be seen. In cirrhosis without cholestasis the patients are not usually significantly hyperlipidaemic and in advanced cases cholesterol and apoB levels may be reduced. Although LCAT activity and the proportion of plasma cholesterol esterified may also be markedly reduced, LP-X is not usually seen, possibly because the flux of free cholesterol and phospholipid (lecithin), the LCAT substrates, is relatively low. Discoidal HDLs are often present.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:Dyslipoproteinaemia of liver disease. 208 7

The occurrence of hyperlipidemia and fat accumulation in certain tissues of premature newborn infants is known. Lecithin-cholesterol acyltransferase (LCAT) catalyzes esterification of free cholesterol and is important in the transport and disposal of lipids. Cord plasma LCAT activity of full-term newborn infants is nearly one-half of that present in the adult plasma. The present study also has found a significant positive correlation between cord plasma LCAT activity and gestational age of the newborn. The ratio of circulating cholesterol ester to free cholesterol was significantly lower only in newborn infants with gestational age less than 32 wk, in comparison to full-term newborn infants or adults. LCAT deficiency and decreased cholesterol ester formation may be responsible for the inadequate lipid clearance in premature newborn infants.
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PMID:Prematurity and lecithin-cholesterol acyltransferase deficiency in newborn infants. 396 14

Bilateral corneal opacities are the first clinical sign of a familial lecithin-cholesterol acyltransferase (LCAT) deficiency and can be found in early childhood. Familial LCAT deficiency includes the following typical clinical findings: corneal opacification, proteinuria, anemia, turbid or milky plasma, very low plasma HDL, very low plasma cholesterol esters and lysolecithin, hyperlipidemia, and very low or absent LCAT enzymatic activity. Several patients have had fundus findings including angioid streaks and papilledema. This disease is autosomal recessive and has been reported in a total of 19 patients previously. Progression of the disease has resulted in premature atherosclerosis, renal failure and transplantation, decreasing visual acuity and corneal transplantation.
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PMID:Corneal opacification and lecithin-cholesterol acyltransferase (LCAT) deficiency: a case report. 647 90

An HPLC method [J. Biochem. (Tokyo) 91:1381, 1982] was used for evaluating serum lipoproteins, with on-line monitoring of either cholesterol or phospholipids. Five well-distinguished lipoprotein fractions were observed, based on their particle sizes. Serum of 15 normal persons, 12 subjects with various types of hyperlipidemia, 20 patients with various liver diseases, and two cases of familial LCAT deficiency were examined and the results compared with those by a sequential ultracentrifugal floatation technique. In the normal group, the amounts of fractions 2, 3, and 4 by the HPLC method correlated well with concentrations of the LDL, HDL2, and HDL3 fractions as measured by the ultracentrifugal method, respectively. In the hyperlipidemic group, similar good correlations were observed between fractions 1, 2, 3, 4 and chylomicrons + VLDL, LDL, HDL2, and HDL3 fractions, respectively. For those with liver diseases or LCAT deficiency, the corresponding fractions correlated less well, and characteristically the elution profile of lipoproteins in these groups showed heterogeneity of particle size within each lipoprotein density class, especially in LDL and HDL2.
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PMID:Serum lipoprotein measurement--liquid chromatography and sequential floatation (ultracentrifugation) compared. 683 51

We report a 20-year-old patient with arteriohepatic dysplasia (Alagille's syndrome) who developed progressive renal failure associated with extensive renal lipidosis. A renal biopsy showed diffuse thickening of glomerular basement membrane mimicking idiopathic membranous glomerulonephritis on light microscopy. Electron microscopy, however, demonstrated numerous intramembranous and mesangial lipid deposits, quite similar to those described in familial lecithin cholesterol acyltransferase deficiency. We believe the renal lipidosis developed secondary to hyperlipidemia associated with longstanding intrahepatic cholestasis. This case illustrates that extensive lipid deposition in the glomerular basement membrane may occur in patients with arteriohepatic dysplasia, and it may lead to progressive renal failure.
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PMID:Renal lipidosis associated with arteriohepatic dysplasia (Alagille's syndrome). 715 49