Cases reported "Hypercholesterolemia"

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1/15. Eruptive xanthomas and chest pain in the absence of coronary artery disease.

    Because hyperlipidemia may present as xanthomas, a dermatologist may be the first to diagnose these skin lesions and associated lipid abnormalities. Xanthomas are of concern because of their association with coronary artery disease and pancreatitis. We describe the case of a 40-year-old white male with chest pain and eruptive xanthomas. Laboratory tests revealed severe hypercholesterolemia, hypertriglyceridemia, and diabetes mellitus, and the histopathology of the skin lesions was consistent with eruptive xanthomas. Surprisingly, even with overwhelming risk factors for both atherosclerosis and pancreatitis, this patient did not show evidence of either disease process. After initiating therapy for the diabetes and hyperlipidemia, the patient has had no recurrence of chest pain, and the skin lesions have gradually resolved. The most likely explanation for this patient's pattern of symptoms and laboratory results is the chylomicronemia syndrome, which can be seen in patients with type I or type V hyperlipoproteinemia.
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2/15. Severe hypercholesterolemia in a double heterozygote for lipoprotein lipase deficiency (LPL(Arita)) and apolipoprotein epsilon4: a report of a family with LPL(Arita).

    Although heterozygous lipoprotein lipase (LPL) deficiency is not rare, only part of the phenotypes may have been reported in japan. Here we describe a Japanese family with LPL(Arita), the most common mutation linked to familial LPL deficiency in japan, and show for the first time a heterozygote for the mutation who had marked hypercholesterolemia due to increased low-density lipoprotein (LDL) cholesterol. The proband's mother, one of the heterozygotes for LPL(Arita) in the family, had both severe hypercholesterolemia (total cholesterol 306 mg/dl) with an especially increase in LDL-cholesterol and mild hypertriglyceridemia (180 mg/dl). She had normal LDL receptor activity and did not show clear evidence of possible causes of secondary hyperlipidemia. In addition to being heterozygous for LPL deficiency, she was also heterozygous for apo epsilon4. Because the epsilon4 allele is known to be associated with higher LDL-cholesterol, heterozygous apo epsilon4 may be one of causes of her LDL-cholesterol elevation. The other three heterozygotes for LPL(Arita) were moderate drinkers, and all of them had both remarkable hypertriglyceridemia and mild hypercholesterolemia due to increased very-low-density lipoproteins (VLDL). The results suggest that heterozygotes for LPL(Arita) can exhibit various phenotypes of hyperlipidemia, that is, hypertrigliceridemia and/or hypercholesterolemia due to not only increased VLDL but also increased LDL. The phenotypes appear to depend on some other genetic and environmental factors.
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3/15. Transient chylomicronemia preceding the onset of insulin-dependent diabetes in a young girl with no humoral markers of islet autoimmunity.

    OBJECTIVE: We investigated the possible causes of diabetes in a young child who presented with hyperglycemia associated with severe hypertriglyceridemia (>166 mmol/l), hypercholesterolemia (>38 mmol/l) and fasting chilomicrons. RESULTS: The patient did not have any of the HLA and autoantibody markers typically associated with type 1 diabetes. A glucose clamp failed to demonstrate insulin resistance (peripheral glucose utilization rate (M)=4.3 mg/kg per min) and there was no family history of type 2 diabetes or maturity onset diabetes in youth. Both fasting and stimulated c-peptide levels, including those in response to i.v. glucagon, were below the limit of detection. This is consistent with loss of beta-cell function. The family history did not reveal the existence of relatives with lipid abnormalities, coronary heart disease, and pancreatitis. We did not find any abnormality of plasma apoCII, lipoproteinlipase and hepatic lipase activities. The patients had a epsilon3/epsilon3 apoE genotype and she rapidly cleared an oral fat load after normalization of plasma lipids. CONCLUSIONS: The mild hyperglycemia seems an unlikely explanation for both the severe hypertriglyceridemia and chylomicronemia. A more plausible explanation is transient lipoproteinlipase deficiency. This rare condition, occasionally associated with a high-fat diet, could have caused the rapid and dramatic hypertriglyceridemia observed in this patient, which in turn might have led to the beta-cell destruction by direct lipid toxicity.
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4/15. clozapine-induced hyperlipidemia resolved after switch to aripiprazole therapy.

    OBJECTIVE: To report a case of severe clozapine-induced hypercholesterolemia and hypertriglyceridemia that resolved after therapy was switched to aripiprazole. CASE SUMMARY: A 42-year-old white man with schizoaffective disorder experienced new-onset hyperlipidemia with the addition of clozapine therapy. Despite treatment with various antihyperlipidemic agents, his total cholesterol level reached 477 mg/dL and his triglyceride level reached 4758 mg/dL. After a decrease in adherence with clozapine and subsequent deterioration, the patient was hospitalized and his antipsychotic therapy was switched to aripiprazole. The patient's lipid levels improved dramatically to the point that antihyperlipidemic treatment was discontinued. Due to lack of adequate symptomatic relief of psychiatric symptoms, the patient was ultimately switched back to clozapine therapy, at which time his lipid levels started to worsen again. DISCUSSION: There is a critical scarcity of data that relate to aripiprazole-induced lipid changes. Some studies have suggested that aripiprazole is not associated with the development of hyperlipidemia. Our case indicates that aripiprazole therapy may not have an adverse effect on lipid levels, even in patients who have a history of hyperlipidemia induced by another atypical antipsychotic. CONCLUSIONS: Should aripiprazole be found to have a definitive lipid-neutral effect, then clinicians would be wise to factor this finding into overall benefit-versus-risk considerations in the antipsychotic treatment selection process, especially in a society in which cardiovascular disease continues to be a principal cause of morbidity and mortality.
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5/15. lipodystrophy and serum lipid abnormalities in hiv-positive sub-Saharan population on ART.

    To evaluate whether racial factors may be involved in the development of ART-induced lipodystrophy and/or lipid serum abnormalities, we carried-out a case-control study on all 23 consecutive anti-hiv-positive sub-Saharan black African patients observed from September 20fc01 to December 2001 ('Cases') and 23 Caucasian 'Controls' pair-matched for sex, age ( /-5 years), number of CD4 cells ( /-100 cells), clinical stage of hiv infection, overall duration ( /-3 months) of anti-retroviral treatment and type and duration ( /-3 months) of the last anti-retroviral regimen. The cases, as compared with the controls, less frequently showed lipodystrophy (4.4 vs. 65.2%, P<0.001) and hypertriglyceridemia (8.8 vs. 56.5%, P<0.005), whereas the prevalence of subjects with hypercholesterolemia was similar in the two groups (30 and 39.1%, respectively). overall, the prevalence of patients lacking both lipodystrophy and serum lipid abnormalities was markedly higher for the cases than for the controls (69.5 vs. 13%, P<0.001). This study seems to indicate that anti-retroviral-induced lipodystrophy and hypertriglyceridemia may be associated to some racial factor.
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6/15. Severe hyperlipidemia due to multiple factors in a child with nephrotic syndrome.

    An unusual case of severe hypercholesterolemia and hypertriglyceridemia is described in a child with nephrotic syndrome. The severe hyperlipidemia in this patient was most likely induced by multiple interacting factors which included the metabolic abnormalities of nephrotic syndrome, steroid therapy, the underlying genetic predisposition of ApoE-2 homozygosity as well as diet and diuretic therapy. The result of these factors was an extremely severe type III hyperlipoproteinemia. The pathogenesis of hyperlipidemia in this setting is discussed.
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7/15. Hyperlipidemia due to oxymetholone therapy. Occurrence in a long-term hemodialysis patient.

    Marked hypertriglyceridemia and hypercholesterolemia accompanied by angina and a left cerebral thrombosis occurred in a long-term hemodialysis patient following 5 1/2 weeks of oral treatment with oxymetholone, 100 mg/day, a synthetic androgen. After androgen therapy was discontinued, over a three-month period, plasma lipid values progressively decreased below pretreatment values, and clinical symptoms disappeared. During rechallenge with oxymetholone, serum lipid values increased substantially, and the lipoprotein pattern changed from a type IV to a type V. Detailed lipid studies showed subnormal postheparin lipolytic activity and a fast-migrating pre-beta-lipoprotein in a very-low-density lipoproteins (VLDL) fraction. Because of the data linking lipid abnormalities to atherosclerosis and the acceleration of atherosclerosis in long-term hemodialysis patients, great caution should be exercised in administering androgenic steroids to these patients.
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8/15. Aneurysmal dilatation in saphenous vein bypass grafts.

    Three patients are reported who developed aneurysmal degeneration of a saphenous vein arterial bypass graft. All three had hypercholesterolemia and two had marked elevation of triglycerides. One bypass was for occlusive disease and two for popliteal aneurysm. There was a long lag, 3 to 7 years between graft implantation and aneurysmal degeneration. The pathology was similar for all three cases with lipid laden macrophages, loss of elastic lamina, and other atherosclerotic changes in the vein wall. While atheromatous changes and aneurysm formation in saphenous vein bypass grafts are rare, this may occur especially in patients with hypercholesterolemia and hypertriglyceridemia. Careful and prolonged follow-up plus vigorous management of the hyperlipidemic state is mandatory in these patients.
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9/15. A case of alcoholic liver injury with an unusual polyacrylamide-gel disc-electrophoretic pattern of serum lipoproteins.

    An unusual lipoprotein pattern on polyacrylamide-gel disc-electrophoresis was observed in 37 year-old male diagnosed as alcoholic liver injury. The electrophoretic lipoprotein pattern consisted of a major band of pre-beta mobility and minor intermediate, fast-beta and slow-alpha bands. The normal beta band was virtually absent and the alpha band was diminished. The abnormal lipoprotein pattern was observed one week after discontinuing alcohol consumption when marked hypertriglyceridemia demonstrated earlier had already normalized leaving a moderate hypercholesterolemia with reduced esterified cholesterol and abnormal liver function tests. The lipoprotein abnormalities were completely normal one month later. The appearance of a major pre-beta band with normal triglyceride and high cholesterol levels is discussed in relation to the formation of larger triglyceride-rich LDL particles in recovery from alcoholic hepatitis.
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10/15. hypertriglyceridemia: a contraindication to the use of bile acid binding resins.

    bile acid binding resins are indicated for treatment of elevated plasma low-density lipoprotein cholesterol concentrations. In normoglyceridemic patients, plasma concentrations of low-density lipoprotein cholesterol and total cholesterol are closely linked, and for this reason resin treatment of elevated total cholesterol levels in these patients is rational and warranted. Hypertriglyceridemic patients may also have elevated total cholesterol concentrations, and several such patients have been treated with resin. However, resin therapy in these patients is hazardous, since the elevated cholesterol level mainly results from increased plasma concentrations of very-low-density lipoproteins or chylomicrons rather than low-density lipoproteins. In these patients, resin treatment has either no effect or an adverse effect on plasma triglyceride and cholesterol concentrations. The data presented show that fewer than 5 percent of patients whose total plasma triglyceride concentration exceeded 500 mg/dl had elevated low-density lipoprotein cholesterol concentrations, irrespective of total plasma cholesterol concentrations, and no patient whose plasma triglyceride concentration exceeded 1,000 mg/dl had elevated low-density lipoprotein cholesterol levels. Treatment with bile acid binding resins in hypercholesterolemic patients is contraindicated in the presence of hypertriglyceridemia.
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