1/25. Tuberous xanthomas in sitosterolemia.Sitosterolemia is an autosomal recessive lipid disorder in which plasma plant sterol levels are extremely elevated and cholesterol levels are often elevated but may be normal. Clinically sitosterolemia is characterized by xanthomas, premature vascular disease, and arthritis. adolescent boys and girls with sitosterolemia are susceptible to fatal cardiac events. Dermatologists may have a vital role in the diagnosis of this rare but serious condition because early detection and treatment are important in preventing the associated atherosclerotic heart disease. We present a 7-year-old girl with sitosterolemia and tuberous xanthomas.- - - - - - - - - - ranking = 1keywords = plant (Clic here for more details about this article) |
2/25. Japanese sisters associated with pseudohomozygous familial hypercholesterolemia and sitosterolemia.Pseudohomozygous familial hypercholesterolemia is a rare condition of unknown etiology. Sitosterolemia is a rare autosomal recessively inherited disorder that is characterized by premature coronary artery disease, cutaneous xanthomas, and increased plasma plant sterols and 5alpha-stanols. Only a few cases of both sitosterolemia and pseudohomozygous familial hypercholesterolemia have been reported. In this study, we report two sisters with both conditions. With a low-cholesterol diet (< 250 mg/day), serum cholesterol concentration decreased rapidly to an almost normal level and cutaneous xanthomas gradually regressed and finally disappeared; however, plant sterol levels did not change during the period. Plant sterols should be measured in patients considered to have pseudohomozygous familial hypercholesterolemia. The two conditions in this family may have been the results of a single gene mutation. The findings also indicate that low cholesterol diet therapy is effective for the treatment of hypercholesterolemia but not of sitosterolemia in this family.- - - - - - - - - - ranking = 2keywords = plant (Clic here for more details about this article) |
3/25. Cerebrotendinous xanthomatosis in three siblings from a Taiwanese family.We present and discuss the clinical and biochemical findings of three siblings with cerebrotendinous xanthomatosis, which has not been previously reported in taiwan. Clinical features consisted of tendinous xanthomas, cataracts, mental defects, pyramidal signs, cerebellar ataxia, peripheral neuropathy and renal stones. Biochemical findings included normal serum cholesterol levels, high serum cholestanol levels and elevated serum cholestanol to cholesterol ratios. The serum levels of cholesterol precursor (lathosterol) and plant sterols (campesterol, sitosterol) were also elevated.- - - - - - - - - - ranking = 1keywords = plant (Clic here for more details about this article) |
4/25. Homozygous familial hypercholesterolaemia presenting with cutaneous xanthomas: response to liver transplantation.A 19-month-old girl with cutaneous xanthomas was diagnosed with homozygous familial hypercholesterolaemia, treated with atorvastatin, plasma exchange and finally at the age of 3.5 years, with liver transplantation. Her serum cholesterol levels fell to normal and the xanthomas regressed following liver transplantation. She remains well 17 months post transplant.- - - - - - - - - - ranking = 7keywords = plant (Clic here for more details about this article) |
5/25. Successful living-related liver transplantation for familial hypercholesterolemia in the middle east.Familial hypercholesterolemia (FH) is an autosomal dominant inherited metabolic disorder resulting in advanced vascular atherosclerosis and premature death, primarily from coronary artery disease. The primary defect is a mutation in the gene encoding for the plasma LDL receptor located on the short arm of chromosome 19. liver transplantation is currently the most effective method of treating this disorder. Living-related liver transplantation (LRLT) has become an excellent modality for treating children, including those with inherited metabolic diseases. In this paper, we describe the first report of a LRLT for familial hypercholesterolemia and review FH and the role of liver transplantation.- - - - - - - - - - ranking = 7keywords = plant (Clic here for more details about this article) |
6/25. Dietary sitostanol and campestanol: accumulation in the blood of humans with sitosterolemia and xanthomatosis and in rat tissues.Dietary sitostanol has a hypocholesterolemic effect because it decreases the absorption of cholesterol. However, its effects on the sitostanol concentrations in the blood and tissues are relatively unknown, especially in patients with sitosterolemia and xanthomatosis. These patients hyperabsorb all sterols and fail to excrete ingested sitosterol and other plant sterols as normal people do. The goal of the present study was to examine the absorbability of dietary sitostanol in humans and animals and its potential long-term effect. Two patients with sitosterolemia were fed the margarine Benecol (McNeill Nutritionals, Ft. washington, PA), which is enriched in sitostanol and campestanol, for 7-18 wk. Their plasma cholesterol levels decreased from 180 to 167 mg/dL and 153 to 113 mg/dL, respectively. Campesterol and sitosterol also decreased. However, their plasma sitostanol levels increased from 1.6 to 10.1 mg/dL and from 2.8 to 7.9 mg/dL, respectively. Plasma campestanol also increased. After Benecol withdrawal, the decline in plasma of both sitostanol and campestanol was very sluggish. In an animal study, two groups of rats were fed high-cholesterol diets with and without sitostanol for 4 wk. As expected, plasma and liver cholesterol levels decreased 18 and 53%, respectively. The sitostanol in plasma increased fourfold, and sitostanol increased threefold in skeletal muscle and twofold in heart muscle. Campestanol also increased significantly in both plasma and tissues. Our data indicate that dietary sitostanol and campestanol are absorbed by patients with sitosterolemia and xanthomatosis and also by rats. The absorbed plant stanols were deposited in rat tissues. Once absorbed by sitosterolemic patients, the prolonged retention of sitostanol and campestanol in plasma might increase their atherogenic potential.- - - - - - - - - - ranking = 2keywords = plant (Clic here for more details about this article) |
7/25. spinal cord compression with paraplegia in xanthomatosis due to normocholesterolemic sitosterolemia.A 48-year-old woman with a 30-year history of tendinous xanthomatosis developed paraplegia. The magnetic resonance image revealed extramedullary tumors. The analysis of her sera and tumors revealed increased amount of plant sterols, especially sitosterol, and the diagnosis of sitosterolemia was made. This is the first reported case of a patient with sitosterolemia who had the neurological complication of spinal cord compression due to extramedullary sitosterolemic xanthomas.- - - - - - - - - - ranking = 1keywords = plant (Clic here for more details about this article) |
8/25. Gingival and cutaneous xanthomatosis associated with primary biliary cirrhosis. Report of a case.The first comprehensive case report of intraoral xanthomatosis associated with primary biliary cirrhosis is detailed. The lesions were present along the free gingival margin and labial vestibule. Crevicular fluid was noted to be tinged yellow. Generalized cutaneous eruptions were also seen. The xanthomas were attributed to the underlying hyperlipoproteinemia. Advanced progression of the hepatic disease necessitated a liver transplant. Disappearance of both oral and skin lesions were subsequently observed.- - - - - - - - - - ranking = 1keywords = plant (Clic here for more details about this article) |
9/25. Decreased cholesterol biosynthesis in sitosterolemia with xanthomatosis: diminished mononuclear leukocyte 3-hydroxy-3-methylglutaryl coenzyme a reductase activity and enzyme protein associated with increased low-density lipoprotein receptor function.We investigated the mechanism for reduced cholesterol biosynthesis in sitosterolemia with xanthomatosis. The conversion of acetate to cholesterol and total and active hydroxymethylglutaryl (HMG) coenzyme a (CoA) reductase activities, enzyme protein mass, and catalytic efficiency were related to low-density lipoprotein (LDL) receptor function in freshly isolated mononuclear leukocytes collected at 9 AM after a 12-hour fast from two affected sisters and 12 control subjects. Active HMG-CoA reductase activity was determined in mononuclear leukocyte microsomes prepared and assayed in the presence of sodium fluoride, while total HMG-CoA reductase activity was determined in the absence of the phosphatase inhibitor. Enzyme protein was assayed using rabbit polyclonal anti-rat liver microsomal HMG-CoA reductase serum. The rates at which [14C]acetate was transformed to cholesterol by sitosterolemic mononuclear leukocytes were decreased 29% and 41%, respectively, compared with the mean value for mononuclear leukocytes from 12 control subjects. Similarly, total HMG-CoA reductase activities were 71% and 68% lower in sitosterolemic mononuclear leukocyte microsomes and were associated with 62% and 65% less enzyme protein than the mean for the control microsomal preparations. This marked decrease in HMG-CoA reductase protein mass in sitosterolemic microsomes was partially compensated for by an increase in the proportion of active enzyme. Sitosterolemic plasma and mononuclear leukocyte cholesterol concentrations were not significantly different from control values, although total sterol levels were increased about 20% because of abundant plant sterols. In contrast, receptor-mediated LDL degradation by sitosterolemic mononuclear leukocytes was increased 50% over control.(ABSTRACT TRUNCATED AT 250 WORDS)- - - - - - - - - - ranking = 1keywords = plant (Clic here for more details about this article) |
10/25. Increased plasma plant sterol levels in heterozygotes with sitosterolemia and xanthomatosis.Plasma sterol levels in a family of sitosterolemia and xanthomatosis were determined by a high performance liquid chromatography. Three affected siblings manifested marked xanthomatosis including subcutaneous soft tissues and generalized atherosclerosis. Two other siblings as well as children of the patients did not show such clinical symptoms and signs. Plasma levels of cholesterol, sitosterol, campesterol, and cholestanol in three affected subjects were 190 /- 18.5, 25.9 /- 11.6, 16.1 /- 7.8, 1.84 /- 0.92 mg/dl (mean /- SD), respectively. Four daughters of the affected subjects, who should be considered as obligatory heterozygotes, showed moderately increased levels of these sterols (195 /- 41.7, 1.33 /- 0.44, 1.56 /- 0.69, 0.80 /- 0.28 mg/dl), which were significantly higher than those of normal subjects. Treatment with cholestyramine had little effect on the increased plasma plant sterol levels, but markedly decreased plasma cholestanol concentrations in two affected siblings. This report presents the clinical features of the patients with sitosterolemia and xanthomatosis and also demonstrates that heterozygotes with this disorder have increased plasma levels of plant sterols as well as cholestanol, and suggests that this rare disease might be inherited as an autosomal co-dominant trait in certain cases. The data also indicate that cholestyramine administration was not effective in this family for treatment of sitosterolemia.- - - - - - - - - - ranking = 6keywords = plant (Clic here for more details about this article) |
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