1/8. A case of hyperlipidemia with homozygous apolipoprotein E5 (Glu3-->Lys).In this study, we present clinical feature of a novel case with homozygous apolipoprotein (apo) E5.The patient was a 53-year-old Japanese woman. She was from a small island off the coast of Kagoshima Prefecture, japan. Her parents were first degree cousins. No corneal opacification, xanthomatosis, lymphadenopathy, or hepatosplenomegaly was observed. There have been no signs of clinically overt atherosclerosis to date. Her serum total cholesterol, triglycerides (TG) and high-density lipoprotein (HDL)-cholesterol levels were 11.6, 6.1 and 1.2 mmol/l, respectively, and apo A-I, A-II, B, C-II, C-III and E levels were 121, 34.8, 269, 10.4, 25.7 and 10.3 mg/dl, respectively. serum lipoprotein profile analyzed by agarose gel electrophoresis and differential staining revealed markedly increased cholesterol and TG in both beta and prebeta-migrated lipoproteins, whereas alpha-migrated lipoprotein showed decreased cholesterol. Her apo E isoform analyzed by isoelectric focusing (IEF) was found to be homozygous apo E5.polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) analysis of her apo E and lipoprotein lipase (LPL) genes revealed that she had a homozygous apo E (Glu3-->Lys) and heterozygous LPL variant Ser447 to Ter. Her son and daughter, both of whom had hyperlipidemia, were found to have apo E3/5 phenotype. Direct sequencing analysis of her apo E gene confirmed a homozygous one nucleotide change: G to A at nucleotide position of 2836 in the exon 3, resulting in Glu3-->Lys mutation.This is the first report of lipids and lipoprotein profiles in patients with homozygous apo E5 (Glu3-->Lys).- - - - - - - - - - ranking = 1keywords = xanthomatosis (Clic here for more details about this article) |
2/8. Xanthomatized atypical T cells in a patient with mycosis fungoides and hyperlipidemia.BACKGROUND--Lipoprotein-T-cell interactions are being reported with increasing frequency, and there is evidence that lipoproteins play a role in immunoregulation. We describe a patient with mycosis fungoides and hyperlipidemia who developed xanthomatization in one preexisting plaque. The case is unique in that some of the lipidized cells were atypical T cells. In previously reported cases of mycosis fungoides with dystrophic xanthomatosis, the lipid-containing cells have been identified only as histiocytes. OBSERVATIONS--Immunopathologic features, electron microscopy, and lipid stains of the xanthomatized plaque demonstrated that some of the lipid-laden cells were atypical T cells. CONCLUSIONS--In mycosis fungoides, malignant T cells may be intimately involved in processing of tissue lipids. We suggest that low-density lipoprotein receptors on activated T cells facilitated the cytoplasmic lipidization in this case.- - - - - - - - - - ranking = 1keywords = xanthomatosis (Clic here for more details about this article) |
3/8. A case of xanthomatosis and hyperlipoproteinemia type v propably induced by overdosage of insulin.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.- - - - - - - - - - ranking = 5keywords = xanthomatosis (Clic here for more details about this article) |
4/8. Normocholesterolemic dysbetalipoproteinemia with xanthomatosis.A patient is described who has marked palmar xanthomatosis associated with a normal concentration of plasma cholesterol. Analysis of xanthomas revealed them to contain large quantities of cholesterol with both intra- and extracellular lipids. Examination of plasma lipoproteins showed them to be consistent with a pattern of dysbetalipoproteinemia (Type III hyperlipoproteinemia). VLDL had beta-mobility on electrophoresis, a high cholesterol/triglyceride ratio, and increased apoprotein B. However, arginine-rich apoprotein was not increased in VLDL, in contrast to hypercholesterolemic patients with the Type III pattern. Nevertheless, the E3 subfraction of the arginine-rich apoprotein was virtually absent, which is characteristic of dysbetalipoproteinemia. Cholesterol and bile acid synthesis were in the normal range. Thus, of particular interest was the development of severe xanthomatosis without hypercholesterolemia in this patient. Therefore, tissue accumulation of cholesterol was apparently the result of a qualitative abnormality in lipoproteins and not due to an excess of plasma cholesterol.- - - - - - - - - - ranking = 6keywords = xanthomatosis (Clic here for more details about this article) |
5/8. Primary biliary cirrhosis: management of an unusual case with severe xanthomata by hepatic transplantation.We report a patient with advanced primary biliary cirrhosis associated with sjogren's syndrome, xanthelasma, and extensive, painful xanthomata involving cutaneous lipid deposits on her face, abdomen, hands, and buttocks and extensor surfaces over many joints. Despite conventional dietary and drug therapy, these lesions progressed rapidly over 3 years. There was symptomatic improvement of the xanthomata, but no objective amelioration of the xanthomatosis with the use of plasmapheresis over an 18-month period. liver transplantation was undertaken for decompensated chronic liver disease and poor quality of life due to complications of xanthomatosis. Twelve months after transplantation, all xanthomata and xanthelasma and symptoms attributable to xanthomata had disappeared. liver transplantation is a drastic but successful remedy for complications of abnormal lipid metabolism associated with primary biliary cirrhosis.- - - - - - - - - - ranking = 2keywords = xanthomatosis (Clic here for more details about this article) |
6/8. Plane xanthoma and multiple myeloma with lipoprotein--paraprotein complexing.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.- - - - - - - - - - ranking = 1keywords = xanthomatosis (Clic here for more details about this article) |
7/8. Normolipemic subcutaneous xanthomatosis.A patient with diabetes mellitus is described in whom an unusual xanthomatosis developed involving large areas of the subcutaneous tissue and vocal cords. Few lesions were present on the skin. Plasma lipid, lipoprotein, apolipoprotein, and cholestanol levels revealed normal patterns. Electron microscopy showed macrophages with vacuolar and crystal lipid inclusions. Results of lipid and enzyme analysis of the subcutaneous xanthoma were similar to those of xanthomas derived from a patient with diabetes mellitus and type V hyperlipidemia. The mechanism of this xanthomatosis remains unknown.- - - - - - - - - - ranking = 6keywords = xanthomatosis (Clic here for more details about this article) |
8/8. Phytosterolaemia, xanthomatosis and premature atherosclerotic arterial disease: a case with high plant sterol absorption, impaired sterol elimination and low cholesterol synthesis.A fourth case is described in which phytosterolaemia, earlier diagnosed as familial hypercholesterolaemia, was associated with normocholesterolaemia, hypersplenism and premature atherosclerotic arterial disease requiring a three-vessel coronary bypass at the age of 29 years. During a follow-up of 5 years 22-26% and 27-30% of serum and bile sterols were plant sterols, respectively. In addition to campesterol and beta-sitosterol, stigmasterol and a fourth major plant sterol, tentatively identified as avenasterol, were found in bile, and in free and esterified forms in all serum lipoproteins. Analysis of faecal steroids and measurement of biliary lipid secretion indicated that in addition to enhanced absorption of plant sterols their decreased biliary secretion contributed to the development of phytosterolaemia. Impaired biliary cholesterol secretion was compensated for by a markedly reduced cholesterol but normal bile acid synthesis and resulted in bile undersaturated with respect to cholesterol, in a reduced intestinal cholesterol pool and in a very low faecal excretion of cholesterol as neutral sterols. Cholestyramine brought about a modest increase in cholesterol elimination as bile acids, increased cholesterol synthesis as evidenced by the sterol balance value and the increased cholesterol precursors squalene and methyl sterols in plasma and bile, and reduced the plasma cholesterol by 21% and plant sterols by 16%, but had no effect on the biliary composition of main sterols.- - - - - - - - - - ranking = 4keywords = xanthomatosis (Clic here for more details about this article) |