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 48 year old male patient presented with xanthomatosis, hyperbeta lipoproteinemia and hyper-IgA globulinemia; these two serum components occurred as a "complex." The patient has subsequently been studied for 22 years (1952 to 1974). His serum cholesterol and triglyceride levels have been consistently and excessively high despite efforts to regulate them by means of diet or diet and drugs. Serum immunoglobulin A (IgA) concentration ranged from 1,400 to 3,400 mg/dl compared with a normal value of 156 plus or minus 92 mg/dl. The metabolism of lipoproteins, judged by vitamin A turnover studies was slow. Peripheral atherosclerosis became evident 15 years after beginning the study whereas cinecoronary arteriography concurrently demonstrated only minimum changes. Xanthomas exhibited marked regression only during the last 6 years, after 16 years of diet and the addition of clofibrate for 7 years. Beta lipoprotein and IgA globulin determined by immunofluorescent and immunoelectrophoretic technics were demonstrated in the atherosclerotic material obtained from the patient's arterial wall. They were also found in the plasma cells of the bone marrow. The IgA globulin-beta lipoprotein complex in the serum was broken with difficulty. The patient's isolated IgA globulin, free of lipoprotein, formed a firm complex when mixed with beta lipoprotein prepared from normal human serum. Initially, IgA globulin studies showed presence of both kappa and lambda light chains in normal proportion. But after 18 years, the IgA globulin has become monoclonal, type lambda. The plasma cells of the bone marrow have become progressively more atypical and immature. No clinical indications of multiple myeloma have been found. It is concluded that association of lipoproteins with IgA globulin in the serum of this patient with hyperlipidemia, hyper-IgA globulinemia did not prevent the development of atherosclerotic lesions and the deposition of lipids and lipoproteins in the plaques. It is possible that the lipoprotein-immunoglobulin association may have retarded the process, since it became manifest only after many years of known hyperlipidemia.
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PMID:Autoimmune hyperlipidemia in a patient. Atherosclerotic course and chaning immunoglobulin pattern during 21 years of study. 16 71

A case of plane xanthomatosis associated with multiple myeloma and hyperlipoproteinaemia in a 62-year-old woman is reported. The patient had IgG type lambda paraproteinaemia and type II A hyperlipoproteinaemia. The IgG paraprotein showed binding activity against high-density lipoprotein. It could not be demonstrated that these paraprotein-lipoprotein complexes were responsible for the hyperlipidaemia. Microchemical analysis of pathological skin demonstrated a high content of triglycerides, similar to that in eruptive xanthomata. No correlation was found between the lipid composition of the xanthomatous skin and the serum lipid composition. The results obtained with an in vitro culture method showed that the paraprotein present in the patient's serum was synthesized in the bone marrow but not in the normal or pathological skin.
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PMID:Plane xanthomata associated with multiple myeloma and hyperlipoproteinaemia. 17 8

A woman, aged 46 years, with a hyperlipoproteinemia phenotype V, an unusual type of xanthomatosis, as well as lipemia retinalis, diabetes mellitus, and nephropathia, is discussed. The withdrawal of 64 IU insulin and the institution of a hypocaloric diabetes diet resulted in the disappearance of the skin lesions and a regression of the eye lesion. During this treatment the total lipid-level became almost normal (6,965 mg% before treatment and 947 mg% after 10 weeks). The chylomicrons disappeared but the VLDL content remained relatively and absolutely elevated, as in type IV hyperlipoproteinemia.
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PMID:A case of xanthomatosis and hyperlipoproteinemia type V propably induced by overdosage of insulin. 17 87

Blood lipid values, clinical data and effects of therapy are reported on 74 patients with hyperlipidemia and xanthomatosis. A natural subdivision into two groups was observed on the basis of low density lipoprotein lipid values: one corresponding to Frederickson's type II, characterized by elevated low density lipoproteins, tendinous xanthomata, absence of eruptive xanthomata and a high incidence of cardiovascular diseases and the other resembling Frederickson's type III, with elevated very low density lipoproteins, eruptive xanthomata, xanthomata striata palmaria, elevated cholesterol/triglyceride ratios in the very low density lipoproteins and irregular appearance of floating beta lipoproteins. The latter group consisted of 32 patients in whom cardiovascular symptoms were relatively rare, despite mean cholesterol levels of 500 mg/dl.
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PMID:Primary hyperlipoproteinemia in xanthomatosis. 18 Nov 83

Human LDL were bound and internalized by cultured human fibroblasts. When an antilipoprotein IgA kappa from a case of myeloma with hyperlipidemia and xanthomatosis was introduced into the system, LDL uptake dropped by 50% but LDL binding to fibroblasts was unchanged. In the same system, IgG and IgA controls were inactive.
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PMID:In vitro interaction of LDL, anti-lipoprotein IgA and human fibroblasts. 21 34

LDL interact with fibroblasts through specific membrane sites. This reaction is the first step of a mechanism which leads to the regulation of intracellular cholesterol synthesis. When LDL form a complex with an IgA from a myeloma serum with mixed hyperlipidemia and xanthomatosis, they no longer function as a regulator, and the result is excess production of free intracellular cholesterol. No excess cholesterol production is observed when myeloma IgA is replaced by control IgG and IgA.
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PMID:Cholesterol synthesis by human fibroblasts in the presence of LDL and anti-LDL IgA. 22 98

Clinicopathologic findings are reported of a woman with generalized plane xanthoma, multiple myeloma (IgG type K), and hyperlipemia with very high levels of serum cholesterol and triglyceride. Complexing of the serum lipoproteins and immunoglobulins had cryoglobulin properties and was separable by ultracentrifugation. Immunofluorescent studies of skin and bone marrow demonstrated deposits of IgG with low density lipoprotein apoprotein and IgG with beta-lipoprotein, respectively. Although immunosuppressive therapy resulted in return of serum IgG, lipid, and lipoprotein levels to normal, the patient died from the myeloma. Serum lipoprotein-paraprotein complexes have been demonstrated in at least 20 other cases of cutaneous xanthomatosis and myeloma. This interaction may result in an autoimmune hyperlipemia.
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PMID:Plane xanthoma and multiple myeloma with lipoprotein--paraprotein complexing. 34 19

Investigations performed in a patient with myeloma, hyperlipidemia, and xanthomatosis demonstrated the antilipoprotein activity of the monoclonal IgA directed against an antigenic site--called Ra.--different from those previously described. A complex IgA beta-lipoprotein has been firstly characterized. After isolation and purification of the IgA, it has been shown that the association between IgA and lipoprotein was immunologically mediated. The antibody is an IgA lambda bound via its Fab portion and in fixed combining ratio to an antigenic determinant shared only by LDL and VLDL of humans and some other mammalians to the exclusion of any other serum proteins. The results obtained with passive hemagglutination and inhibition of hemagglutination suggest that the antigenic site Ra. is not located on apoprotein B (major proteic moiety of LDL and VLDL), since the antigenic determinants of apolipoproteins are different in humans and in animals and since IgA Ra. fails to react with apolipoprotein B obtained by delipidation of LDL. On the other hand, the lack of reaction between IgA Ra. and HDL suggests that the antigenic determinant is not only present on the lipid hapten such as in the case of PG and AS determinants which are located on VLDL, LDL, and HDL from humans and animals. So the antigenic determinant revealed by IgA Ra. seems to be different from those previously described.
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PMID:[Monoclonal myelomatous IgA with antilipoprotein antibody activity of Ra specificity (author's transl)]. 51 6

The morbidity and mortality in 172 males and 164 females with xanthomatosis have been investigated. Symptoms of coronary heart disease (CHD) were the most frequent initial manifestation of atherosclerotic vascular disease. Angina pectoris was the first symptom in about 3/4 of males as well as females; myocardial infarction was the first event in 26% of the males and 9% of the females. Other manifestations of atherosclerosis were comparatively rare and occurred late in life. Half of the subjects were affected with symptoms of atherosclerotic vascular disease by the age of 52 in men and 62 in women, the mean age for first symptoms being 49 and 56 years, respectively. No significant influence of other CHD risk factors than xanthomatosis and hyperlipidaemia was found in these patients. An increase in the number of cardiovascular deaths was seen in xanthomatosis patients, compared with the general population, in particular in the number of "sudden deaths". Half of the males died before the age of 66 and half of the females before the age of 74.5, which is about 10 and 7 years earlier than predicted at 30 years of age for the normal population. The cumulative relative mortality in both men and women was about twice that expected for the general Norwegian population until 70 years of age.
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PMID:The risk of atherosclerotic vascular disease in subjects with xanthomatosis. 118 82

Studies were carried out in two patients with multiple myeloma (immunoglobulin G, [IgG], K light chain), cryoglobulinemia and xanthomatosis with clinical features and lipid transport abnormalities which were quite different. One patient had nodular xanthomatosis and lipemia with delayed triglyceride and apolipoprotein removal. In vivo heparin resistance was present and heparin-paraprotein interaction was shown in vitro. The lipoprotein removal defect may have been due to impaired uptake of the "remnants" of glyceride-rich lipoproteins. Abnormalities were found both in primary platelet aggregation and in the platelet release reaction. The second patient had diffuse plane xanthomatosis with normal lipids. An orange cryoprecipitate contained IgG, beta- and prebeta lipoproteins, albumin, carotenoids and about half of the serumcholesterol. Triglyceride turnover was normal. These observations show that M-proteins may interfere with lipid transport by at least two mechanisms and illustrate the clinical diversity of xanthomatous myeloma.
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PMID:Multiple myeloma, cryoglobulinemia and xanthomatosis. Distinct clinical and biochemical syndromes in two patients. 120 39


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