Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019214 (hepatosplenomegaly)
 4,408 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A case of cholesteryl ester storage disease (CESD) was found by liver biopsy in a 5-year-old boy. Hepatosplenomegaly, varying elevations of serum transaminases and hyperlipoproteinemia, type IIb, were detected clinically. The liver tissue was yellow. The cytoplasm of hepatocytes and Kupffer cells was foamy. In frozen sections these cells stained with dyes and histochemical methods for neutral lipids, unsaturated lipids, and cholesterol, but not with dyes for phospholipids and glycosaminoglycans. Under polarized light a large quantity of birefringent storage material was visible. We determined the lipid composition histochromatographically and found a very substantial increase in cholesteryl ester content and a moderate increase in triglycerides compared to control liver tissue. These findings are in agreement with our former case of CESD (1979). But in contrast to the liver tissue of the first patient there was more pronounced hepatic periportal and intralobular fibrosis in the second case. Remarkable amounts of ceroid storing histiocytes, so called "sea-blue histiocytes" were visible within the fibrous tissue. The granules of these cells stained with dyes for neutral lipids, phospholipids, glycosaminoglycans, and sea-blue with Giemsa in both frozen sections and paraffin-embedded liver tissue. They showed a yellow autofluorescence and were partly birefringent. Ceroid is believed to be the product of lipid peroxidation, binding to protein and polymerization. Therefore we suggest an additional deficiency of tissue antioxidants at the storage sites in such cases of CESD and this may potentiate liver fibrosis.
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PMID:[Cholesterol ester storage disease and sea-blue histiocytes]. 344 13

The author reports the case of a patient with an incomplete form of familial lipoprotein lipase deficiency associated with type I hyperlipoproteinemia manifesting an autosomal recessive pattern of inheritance. The patient presented with hepatosplenomegaly, abdominal pain, and fasting chylomicronemia. A Western diet elicited a steep increase in plasma triglyceride concentration and the appearance of floating chylomicrons over a clear infranatant in fasting plasma. Postheparin lipoprotein lipase activity was moderately reduced to 38% of control values. Adipose tissue lipoprotein lipase activity was 10% of normal, whereas his muscle enzyme activity was within the reference range. Two-dimensional electrophoresis of plasma apolipoproteins revealed the presence of normal activator (apolipoprotein C-II). These results confirm the importance of the adipose tissue enzyme for the clearance of diet-derived plasma triglycerides.
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PMID:An incomplete form of familial lipoprotein lipase deficiency presenting with type I hyperlipoproteinemia. 363 Sep 77

A 5-yr old male proband and his sister have had hypertriglyceridemia and hepatosplenomegaly since birth. When studied on a metabolic ward, they demonstrated rapid decreases in serum triglycerides on 3 g fat/day diets. Oral glucose tolerance tests were normal. Postheparin lipolytic activity (PHLA) against chylomicrons was virtually absent in both children whereas the mother and a normolipemic sister had levels approximately 50% normal. However, all four had a normal PHLA against commercial triglyceride emulsion (Intralipid). Two unrelated children from different kindreds of typical type 1 hyperlipoproteinemia and two patients with acquired type V hyperlipoproteinemia had deficient PHLA against both substrates. No inhibitors of PHLA could be demonstrated in the proband's plasma, and his own PHLA could not be enhanced by either normal concentrated plasma or pooled d > 1.063 lipoprotein fraction. The proband's postheparin plasma required almost 20 times the normal chylomicron-triglyceride concentration to reach one-half maximal lipase velocity. Both affected siblings showed heavy pre-beta lipoprotein electrophoretic bands plus chylomicrons in their fasting plasmas while ingesting a 33% carbohydrate, 30% fat diet. Incubation of their postheparin plasma with S(f) > 400 chylomicrons in vitro produced a smaller S(f) 20-400 "remnant" with pre-beta electrophoretic mobility that was not seen under the same conditions when normal postheparin plasma was used. Postheparin monoglyceridase and phospholipase activities were either normal or only moderately decreased when determined with appropriate artificial substrates. These data are consistent with either (a) a mutant gene producing a lipoprotein lipase with unusual substrate specificities or (b) an absolute deficiency of normal lipoprotein lipase with a compensatory increase in some other postheparin triglyceridase.
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PMID:Abnormal lipoprotein lipase in familial exogenous hypertriglyceridemia. 471 78

Type V hyperlipoproteinemia (HLP) is characterized clinically by hepatosplenomegaly, occasional eruptive xanthomas, and an increased incidence of pancreatitis. These patients have striking hypertriglyceridemia due to increased plasma chylomicron and very low density lipoprotein concentrations in the fasting state, without a deficiency of lipoprotein lipase or its activator protein, apolipoprotein (apo) C-II. ApoE, a protein constituent of triglyceride-rich lipoproteins, has been implicated in the receptor-mediated hepatic uptake of these particles. ApoE has three major alleles: E2, E3, and E4, and the products of these alleles are apoE2, apoE3, and apoE4, respectively. ApoE phenotypes were determined in 30 type V HLP patients as well as in 37 normal volunteers. Among the type V patients, 33.3% were noted to be homozygous, and 40.0% heterozygous for E4 (normal, 2.7 and 21.6%, respectively). These data suggest that apoE4 may play a role in the etiology of the hyperlipidemia in a significant number of type V HLP patients.
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PMID:Increased prevalence of apolipoprotein E4 in type V hyperlipoproteinemia. 709 73