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)

Intraosseous xanthoma associated with hyperlipoproteinemia, a rare disorder, was observed in the entire distal femur of a 52-year-old man. Initial radiographs suggested a primary bone neoplasm; however, an open biopsy established a diagnosis of intraosseous xanthoma. Histologically, the lesion was characterized by replacement of normal bone and marrow with xanthoma cells and extracellular cholesterol clefts. The hyperlipidemia was classified as Type III hyperlipoproteinemia and was successfully controlled by dietary lipid restriction alone. The disability was effectively treated and ambulation was possible with the aid of a cane.
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PMID:Intraosseous xanthoma associated with hyperlipoproteinemia. A case report. 674 21

Several eye signs may present secondary to altered blood lipid levels. It is important to recognize these signs and their implications relative to both primary and secondary hyperlipoproteinemias. The significance of corneal arcus is age related, while isolated xanthelasma implies altered blood lipid levels in 30-50% of the cases. Eruptive xanthomas imply triglyceride levels in excess of 1500 mg% while lipemia retinalis presents when triglyceride levels exceed 2500 mg%. Retinal emboli present as a sign of an eroding atheroma and as such an indicator of the possibility of an impending stroke. Altered blood lipid levels represent a threat to life and must be recognized as early as possible to institute therapy. Therapy may be directed to either the primary or secondary causes of hyperlipoproteinemias.
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PMID:Ocular signs and symptoms of altered blood lipids. 684 66

Specific physical findings are associated with the different phenotypes of hyperlipoproteinemia and may point up the need for further medical work-up to determine whether hyperlipoproteinemia is primary or secondary. The clinical manifestations of severe elevations in plasma lipid levels include xanthomas, which may be tendinous, tuberous, or eruptive. Xanthelasma is a common type of xanthoma that is seen in the creases of the eyelids. Other clinical manifestations of hyperlipoproteinemia include corneal arcus, lipemia retinalis, abdominal pain and pancreatitis. In patients with certain types of xanthoma whose serum cholesterol and triglyceride levels are normal, hyperlipoproteinemia has been diagnosed on the basis of abnormalities in plasma apoproteins and their subfractions.
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PMID:Clinical diagnosis of hyperlipoproteinemia. 684 79

Apolipoprotein E isomorphs in very low density lipoproteins and apolipoprotein B of low density lipoproteins were measured in the plasma of normolipidemic subjects with xanthelasmas of the eyelids and in appropriate control groups. All patients tested in the experimental group had an apolipoprotein EII to apolipoprotein EIII ratio typical of the heterozygous state for familial dysbetalipoproteinemia, a hyperapobetalipoproteinemia, or both. Some patients had concomitant atherosclerosis. This is the first report of an increased frequency of the apolipoprotein E-ND phenotype in normolipidemic xanthelasma. This condition should not be dismissed as benign; tissue lipid deposition in the absence of hyperlipidemia might be related to the presence of lipoproteins of abnormal composition with an enhanced atherogenic potential.
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PMID:Increased Frequency of Apo E-ND phenotype and hyperapobeta-lipoproteinemia in normolipidemic subjects with xanthelasmas of the eyelids. 705 63

In vitro lipogenesis was studied on the xanthoma tissue from 6 patients with normal plasma lipids and 4 patients with hyperlipidemia. Xanthoma tissue was incubated at 37 degrees C for 6 hr in Krebs-Ringer phosphate buffer containing sodium [14C]acetate. The radioactivity of each lipid class was determined after extraction and separation of lipids. The incorporation of acetate into all major lipid groups was much greater in xanthoma tissue than in control normal-appearing skin. There was no difference in the incorporation pattern of 14C between xanthomas of patients with normal plasma lipids and those of hyperlipidemic patients. The data exemplify considerable in situ lipid synthesis of xanthoma tissue. Although the lipids in xanthomas of hyperlipidemic persons may be derived from plasma, the plasma origin of xanthoma lipids in normolipidemic persons remains to be confirmed, and the contribution of local lipogenesis cannot be ignored. The lipids in cutaneous xanthomas are most likely derived from a multiple input system.
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PMID:Lipid synthesis in cutaneous xanthoma. 709 39

Serum lipids and lipoprotein lipids were studied in 53 patients (21 males and 32 females) with xanthelasma palpebrarum and 40 age-matched normal controls (20 males and 20 females). Patients were subdivided into patients with normolipidemia, hyperlipidemia or familial hypercholesterolemia (FH). In both male and female patients with hyperlipidemia or FH, the serum cholesterol (Chol) levels were significantly higher than in normal controls. In both male and female patients with normolipidemia or hyperlipidemia, the VLDL-Chol levels were significantly higher than in normal controls. Male patients with FH showed significantly higher levels of VLDL-Chol than normal controls. Both male and female patients with normolipidemia, hyperlipidemia or FH showed significantly higher levels of LDL-Chol, lower HDL-Chol levels and lower HDL-Chol/LDL-Chol ratios than normal controls. In both male and female patients with hyperlipidemia and in male patients with FH, the serum triglyceride (TG) levels were significantly higher than in normal controls. Both male and female hyperlipidemic patients showed significantly higher levels of VLDL-TG than normal controls. In male patients with FH, the VLDL-TG levels were significantly above the control levels. In male patients with normolipidermia, the LDL-TG levels were significantly higher than in normal controls. In both male and female patients with hyperlipidemia or FH, the LDL-TG levels were significantly higher than in normal controls. The HDL-TG levels in patients with normolipidemia (males) or FH (females) were significantly lower than in normal controls. The prevalence of coronary heart disease in patients with normolipidemia, hyperlipidemia or FH was 29.4%, 24.0% and 45.4%, respectively.
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PMID:Serum lipids, lipoprotein lipids and coronary heart disease in patients with xanthelasma palpebrarum. 722 67

Xanthomas ordinarily occur in the skin and tendons of patients with severe hyperlipidemia. These xanthomas include xanthelasma, tuberous xanthoma, tendon xanthoma and eruptive xanthoma. Two patients with hypercholesterolemia are now described with xanthomas found in other locations, one deep in the mediastinum and one in the muscles of the buttock. These masses simulated the occurrence of neoplastic tumors but on pathological and chemical examination proved to be typical xanthomata. Ectopic xanthomas should be considered in the differential diagnosis of masses in patients with familial hypercholesterolemia.
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PMID:Ectopic xanthomas in familial (type II) hypercholesterolemia. 742 5

Eight patients had multiple xanthomatous plaques and subcutaneous nodules that had a predilection for the periorbital area, flexures, and trunk and that tended to ulcerate. Skin biopsy specimens showed a combination of xanthogranulomatous nodules with necrobiosis. All patients had an accompanying dysproteinemia, which was a monoclonal IgG paraprotein in six. Hyperlipidemia, low serum complement, and cryoglobulinemia were variable features. Five patients had leukopenia. Bone marrow examination showed myeloma in two patients, a lymphoproliferative process in one, and some atypical plasma cells in two. Cutaneous necrobiotic xanthogranuloma is a distinctive histologic pattern most frequently related to plasma cell dyscrasias, and it should be distinguished from normolipemic plane xanthoma and other necrobiotic granulomas.
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PMID:Necrobiotic xanthogranuloma with paraproteinemia. 745 93

Xanthoma is a localized collection of cholesterol-laden histiocytes that is usually idiopathic, but may be seen in patients with hyperlipidemia. We report seven cases of xanthoma involving the prostate, including one arising in a patient with mild hyperlipidemia. Prostatic xanthoma appeared as a solitary microscopic lesion in the peripheral zone (six cases) or transition zone (one case). One needle biopsy specimen with xanthoma was initially interpreted as well-differentiated adenocarcinoma with a clear cell (hypernephroid) pattern, but immunohistochemical studies revealed the histiocytic nature of the proliferation. Five cases (three needle biopsy specimens and two retropubic prostatectomy specimens) contained a solitary xanthoma adjacent to foci of adenocarcinoma. Another xanthoma was present in a transurethral resection specimen with nodular hyperplasia. Although unusual, xanthoma should be considered in the differential diagnosis of clear cell adenocarcinoma and other clear cell proliferations of the prostate, particularly in limited tissue samples, such as from needle biopsies and transurethral resections.
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PMID:prostatic xanthoma: a mimic of prostatic adenocarcinoma. 751 40

Alagille syndrome is frequently associated with hyperlipidemia and xanthoma. The aim of the study was to assess the lipid profile (plasma lipoproteins, apolipoproteins (apo)) and lecithin cholesterol acyl transferase (LCAT) activity, with and without treatment with cholestyramine in Alagille syndrome. Five children (mean age = 6 +/- 4 years) with Alagille syndrome were studied at two different times while receiving no treatment, and while receiving cholestyramine. They were compared with 12 normal controls, who were not different from patients for age and sex. In Alagille syndrome, total serum cholesterol, triglycerides and phospholipids were elevated compared with the controls (P < 0.008). VLDL-cholesterol, LDL-cholesterol, HDL-triglycerides, LDL-triglycerides and VLDL-phospholipids were higher, whereas HDL-cholesterol was lower than controls (P < 0.03). Apo B, CIII, E and lipoprotein particles Lp AI were higher (P < 0.001), whereas Lp AI:AII was lower than controls (P < 0.03). Lipoprotein-X was present in the 5 children with Alagille syndrome and explained in part the elevation of plasma cholesterol, phospholipids, and apo CIII. LCAT activity was decreased (P < 0.01) and might cause some abnormalities of HDL with lower cholesterol, higher triglycerides, apo E and apo CIII contents than controls, and abnormalities of VLDL and LDL with higher cholesterol, triglycerides, phospholipids and apo B contents than controls. Some of the risk factors of atherosclerosis were found in Alagille syndrome, namely high levels of plasma cholesterol, LDL cholesterol, apo B, apo B/apo AI. Treatment with cholestyramine resulted in a few modifications to the lipid profile, while lipoprotein-X and the decrease of LCAT activity persisted.
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PMID:Lipoprotein pattern and plasma lecithin cholesterol acyl transferase activity in children with Alagille syndrome. 766 82


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