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)

A case of xanthoma of the liver in a 61-year-old Korean woman with multiple myeloma, hyperlipidemia and xanthoma of the skin is described. Microscopically, the liver showed a multiple xanthomatous collection of foamy histiocytes as well as diffuse sinusoidal infiltration of the foam cells. This hepatic accumulation of foam cells seems to be related to hyperlipidemia of the patient. The mechanism of hyperlipidemia in multiple myeloma is discussed.
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PMID:Xanthoma of the liver in a patient with multiple myeloma associated with hyperlipidemia. A case report. 892 32

Type III hyperlipidemia is a rare metabolic disorder characterized by elevated plasma concentrations of cholesterol and triglycerides. In subjects homozygous for the isoform E2 of apoprotein E, the disease becomes manifest when other factors that interfere with normal lipoprotein metabolism are present. Multiple myeloma has also been found to be associated with type III hyperlipidemia. We report a case with the typical manifestations of the disease (hyperlipidemia and palmar xanthoma) in whom the family history and blood analyses excluded pathologies potentially interfering with lipid metabolism. On electrophoresis of serum proteins, a monoclonal peak was detected. The patient was homozygous for the isoform E2 of the apoprotein E. Further blood analyses, bone marrow and roentgen examinations enabled the diagnosis of monoclonal gammopathy of undetermined origin. The association of type III hyperlipidemia with monoclonal gammopathy might be casual, although only the characterization of the antigenic determinants toward which the monoclonal antibodies are directed could be conclusive. The presence of several family members homozygous for the isoform E2, but without the clinical and biochemical characteristics of type III hyperlipidemia, and the poor response to diet and drug therapy suggest that gammopathy may play role in determining hyperlipidemia.
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PMID:[Dyslipoproteinemia and monoclonal gammopathy: a case report]. 899 66

Primary xanthoma in foot bones is an extremely rare event. In an individual without a family history of hyperlipemia, it is even a rarer finding. One case of a xanthoma of a calcaneus is presented in an otherwise asymptomatic 19-year-old normal lipidemic female. The previous literature is reviewed. The clinical findings and treatment course are presented.
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PMID:Xanthoma of a calcaneus. 987 49

During inbreeding of Japanese wild mice (Mus musculus molossinus), we established a strain of mice with severe cutaneous xanthomatous lesions. Since those mice showed high plasma cholesterol values, we named them spontaneously hyperlipidemic (SHL) mice; total cholesterol values of these mice (even when fed on conventional low-fat diet) are unusually high throughout the life span. The xanthomatous lesions appear in palms and distal extremities of forelimbs as early as 4 weeks after birth, and continue to expand to chest, abdomen, and face until the mice die before 14 months of age. Histological examination of these lesions revealed cholesterol crystal deposits, an infiltration of foam cells or macrophages, while that of the vascular system revealed atherosclerosis in the aortic sinus. Immunoblot and Northern blot analyses failed to detect apolipoprotein E (APOE) expression in these animals. Consistent with these findings, Southern blot analysis found disruption of the Apoe gene in SHL mice. Phenotypes of SHL mice, however, were distinct from those of Apoetm1Unc (hereafter Apoe-/-) mice, whose Apoe gene was disrupted by homologous recombination; hypercholesterolemia and xanthoma were more severe in SHL mice than in Apoe-/- mice, while atherosclerosis was milder in SHL mice. These distinctions suggest that there are modifier genes for the phenotypes. Alternatively, other gene(s), besides the Apoe gene, may be mutated in SHL mice. In either case, comparative genetic and molecular dissection of SHL mice will provide a good opportunity to understand the genetic basis for hyperlipidemia and atherosclerosis.
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PMID:Spontaneously hyperlipidemic (SHL) mice: Japanese wild mice with apolipoprotein E deficiency. 1008 91

Xanthomas are associated with a spectrum of medical conditions, most commonly disorders of lipid storage and lipid metabolism. They occur primarily in the subcutaneous tissues, especially along the Achilles tendon and the extensor tendons of the hands. Intracranial xanthomas are extremely rare. We present a case of an extensive xanthoma of the temporal bone in a patient with hyperlipidemia.
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PMID:Extensive intracranial xanthoma associated with type II hyperlipidemia. 1069 23

We report the clinicopathologic analysis of 23 tumors from 22 patients with lipidized fibrous histiocytoma (FH), which has been an underrecognized variant of cutaneous FH. The 16 men and 6 women patients (male/female ratio, 2.7:1) ranged in age from 21 to 82 years (median, 50 years). The location of the tumor was concentrated strikingly in the lower limb, especially around the ankle, hence the alternative informal designation of "ankle-type" FH. The tumors showed relatively large size compared with those of conventional FH, ranging up to 8 cm in greatest dimension (median, 2.5 cm), and tended to be polypoid and yellowish in color. Hyperlipidemia was only a rare and perhaps incidental association in two cases. Histologically, lipidized FH was characterized by accumulation of numerous foam cells, smaller numbers of siderophages, and stromal hyalinization typically appearing "wiry," keloidlike, or osteoidlike, although focal features of ordinary FH almost always coexisted and were identified as a focal storiform or curlicue pattern of spindle tumor cells, epidermal hyperplasia, and peripheral "entrapped" dermal collagen. Although follow-up data are limited, the prognosis appears to be good with no recurrence, even after incomplete excision. These clinicopathologic features highlight lipidized FH as a distinctive variant, which can be distinguished from ordinary or other variants of FH, as well as from other foam cell-rich cutaneous lesions, especially xanthoma.
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PMID:Lipidized fibrous histiocytoma: clinicopathologic analysis of 22 cases. 1077 Apr 32

A case of intraosseous xanthoma in a patient with a normal lipid profile is reported. Hyperlipidemia is present in most patients with xanthomas. Intraosseous xanthomas are rare, particularly in normolipidemic patients, in whom the presenting symptom is pain without skin lesions. A lytic lesion with a rim of sclerosis is seen on radiographs. Histology shows foam cells, giant cells, and fibrosis. Intraosseous xanthoma is a benign tumor, and other diagnoses must be ruled out (histiocytosis X, Erdheim Chester disease, clear cell carcinoma metastasis). Surgical excision of the lesion is the elective treatment.
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PMID:Intraosseous xanthoma without lipid disorders. Case-report and literature review. 1077 72

Apolipoprotein-E (apoE) protects against coronary artery disease via hepatic removal of atherogenic remnant lipoproteins, sequestration of cholesterol from vessel walls and local anti-oxidant, anti-platelet and anti-inflammatory actions. ApoE gene transfer may thus ameliorate a hyperlipidaemic profile and have beneficial effects at lesion sites to prevent or regress atherosclerosis, a concept endorsed by adenoviral-mediated hepatic expression studies. Here, using plasmid vectors expressing allelic human apoE2 or apoE3 isoforms, skeletal muscle was evaluated as an effective secretory platform for apoE gene augmentation. Transfected myoblasts and myotubes were found to efficiently secrete recombinant apoE in vitro as spherical 10-16 nm lipoprotein particles with pre-beta mobility. Intramuscular plasmid injection in apoE(-/-) mice, which develop spontaneous atherosclerotic plaque and xanthoma resulted in expression and secretion of apoE. Human apoE mRNA was detected by RT-PCR in injected muscles and, although concentrations of apoE3, which is rapidly cleared from plasma, were near ELISA detection limits, levels of plasma apoE2 were measurable (17.5 +/- 4.3 ng/ml). To assess whether muscle-based expression of apoE2 could inhibit atherogenesis, long-term follow-up studies were conducted. Although hyperlipidaemia was not reduced in treated animals, end-point pathology showed clear retardation of atherosclerotic and xanthomatous lesions. Up to 9 months following a single apoE2 plasmid administration, atherosclerotic lesion coverage in proximal aorta was significantly reduced by 20-30% (P < 0.01), whereas development of gross dorsal xanthoma (>5 mm diameter) was effectively reduced to zero. We conclude that expression of apoE from ectopic muscle sites has therapeutic potential to limit progression of atherosclerosis.
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PMID:Intramuscular injection of a plasmid vector expressing human apolipoprotein E limits progression of xanthoma and aortic atheroma in apoE-deficient mice. 1103 Jul 60

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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PMID:Eruptive xanthomas and chest pain in the absence of coronary artery disease. 1132 91

Multiple cutaneous xanthomas, associated with fasting hyperlipidaemia, are described in a 9-month-old domestic long-haired cat. A severely pruritic, papular, and crusting dermatitis affecting the head and neck, initially diagnosed as lesions of the eosinophilic granuloma complex, progressively developed on the head and pinnae. Pruritus was controlled with administration of prednisolone and chlorambucil. Repeat histological examination confirmed the diagnosis of cutaneous xanthoma and concurrent mild demodicosis. Marked fasting hypercholesterolaemia, hypertriglyceridaemia and transient hyperglycaemia were subsequently confirmed. Treatment for hyperlipidaemia and xanthomas with a low-fat diet (Hill's Feline r/d) and the previously unreported treatment for feline demodicosis of daily oral milbemycin were commenced. Multiple pink, alopecic plaques and papules gradually regressed, however pruritus recurred if immunosuppressive treatment was reduced, and well-demarcated areas of alopecia developed on the head, limbs and trunk, despite negative skin scrapings for demodex mites. Fungal culture of hair samples yielded Microsporum canis. All cutaneous lesions resolved with the addition of griseofulvin to the treatment regimen. Concurrent corneal ulceration and keratoconjunctivitis sicca ultimately resolved with treatment, including topical cyclosporin. Diabetes mellitus developed 6 months after resolution of skin lesions. No cutaneous or ocular abnormalities were present 6 months later with continued low-fat diet and insulin administration, although transient recurrence of papules and pruritus occurred after inadvertent access to a fatty meal. An underlying primary hyperlipidaemia was suspected, causing pruritic xanthomas. This may represent the first report of concurrent cutaneous xanthomas, demodicosis and dermatophytosis in a cat.
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PMID:Cutaneous xanthomas with concurrent demodicosis and dermatophytosis in a cat. 1154 45


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