1/40. Surgical excision of the tendon xanthoma in familial hypercholesterolemia--a case report.Familial hypercholesterolemia is an autosomal dominant disorder characterized by increased low-density lipoprotein cholesterol, premature atherosclerosis and tendon xanthomas. Genetic studies reveal familial hypercholesterolemia to be a dysfunction of LDL receptor gene on cell surface. Recently various mutations in the LDL receptor gene have been reported. When dna method is not available, the occurrence of tendon xanthomas, an isolated elevation of plasma cholesterol, with a normal concentration of plasma triglycerides virtually establishes the diagnosis of familial hypercholesterolemia. In this report, a 42-year-old male had tendon xanthoma at extensor surface of metacarpophalangeal joint of his right hand, olecranon of the left elbow and both knees, and Achilles tendons. The tendon xanthoma was excised for cosmetic reasons, and the wound healing was slower than average in this case. We suggest that before suture removal, wound healing must be complete. It is important that the hand surgeon recognize that tendon xanthoma is a physical sign of a potentially life-threatening disorder to the patient as well as his family, and that this disorder may respond favorably to early examination and management.- - - - - - - - - - ranking = 1keywords = atherosclerosis (Clic here for more details about this article) |
2/40. Characterization of a novel cellular defect in patients with phenotypic homozygous familial hypercholesterolemia.Familial hypercholesterolemia (FH) is characterized by a raised concentration of LDL in plasma that results in a significantly increased risk of premature atherosclerosis. In FH, impaired removal of LDL from the circulation results from inherited mutations in the LDL receptor gene or, more rarely, in the gene for apo B, the ligand for the LDL receptor. We have identified two unrelated clinically homozygous FH patients whose cells exhibit no measurable degradation of LDL in culture. Extensive analysis of dna and mRNA revealed no defect in the LDL receptor, and alleles of the LDL receptor or apo B genes do not cosegregate with hypercholesterolemia in these families. FACS((R)) analysis of binding and uptake of fluorescent LDL or anti-LDL receptor antibodies showed that LDL receptors are on the cell surface and bind LDL normally, but fail to be internalized, suggesting that some component of endocytosis through clathrin-coated pits is defective. Internalization of the transferrin receptor occurs normally, suggesting that the defective gene product may interact specifically with the LDL receptor internalization signal. Identification of the defective gene will aid genetic diagnosis of other hypercholesterolemic patients and elucidate the mechanism by which LDL receptors are internalized.- - - - - - - - - - ranking = 1keywords = atherosclerosis (Clic here for more details about this article) |
3/40. Symptomatic solitary xanthogranuloma occupying the cavernous sinus. Case report.The authors report the first case of a solitary xanthogranuloma of the cavernous sinus without systemic manifestation. A 43-year-old woman experienced decreased visual acuity on the right side in association with papilledema and a visual field defect. She was alert and no other neurological sign was observed. She had no family history of hyperlipoproteinemia and no cutaneous and/or systemic xanthomatous lesions. skull x-ray films showed an enlarged right superior orbital fissure. Computerized tomography revealed a low-density oval mass 2 x 3 cm in diameter in the right cavernous region that was compressing the right optic nerve in the lateral to medial direction. This mass exhibited isointensity on T1-weighted and mixed-pattern hyperintensity on T2-weighted magnetic resonance images with diffuse contrast enhancement. cerebral angiography demonstrated fine staining in the margin, originating from the right middle meningeal artery. These neuroimaging findings closely mimicked those associated with trigeminal neuroma. The lesion was partially removed via a right-sided zygomatic approach, and her symptoms improved. Clinical characteristics and histopathological features of this rare case are discussed.- - - - - - - - - - ranking = 0.001427192161531keywords = artery (Clic here for more details about this article) |
4/40. 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.- - - - - - - - - - ranking = 1.5248614218018keywords = atherosclerosis, artery disease, artery (Clic here for more details about this article) |
5/40. Visual disturbance due to carotid artery thrombosis in a patient with familial hypercholesterolemia; response to surgical thrombotectomy.A 48 years-old Japanese man suffered from marked xanthomas on ankles, knees, hand fingers, and foot joints due to insufficient control of serum hypercholesterolemia despite low density lipoprotein (LDL-C) absorptive therapy followed by treatment with potent anti-hypercholesterolemic agents. He had undergone surgical resection of xanthoma on the knee, foot and hand finger joints. Treatment with simvastatin returned the serum total cholesterol levels to nearly normal levels, followed by marked fluctuations. He subsequently experienced transient right-visual disturbance, and roentogenographic examination was performed. The patient was diagnosed as right-common carotid artery thrombosis. After the thrombotectomy of the right-common carotid artery, his visual power was markedly improved.- - - - - - - - - - ranking = 0.0085631529691862keywords = artery (Clic here for more details about this article) |
6/40. 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 = 0.10497228436036keywords = artery disease, artery (Clic here for more details about this article) |
7/40. Clinical, biochemical, and immunohistochemical features of necrobiotic xanthogranulomatosis.AIMS: To describe the clinical features of two patients with paraproteinaemia and necrobiotic xanthogranulomatosis together with detailed immunohistochemistry of the lesions in one. methods: The clinical history and results of biochemical investigations of the patients were retrieved from the files. immunohistochemistry was used to investigate the expression of macrophage and mast cell markers, amyloid A and P, S-100 protein, and apolipoprotein AI and B in xanthogranulomatous skin lesions from patient 2. In addition, protein A-sepharose chromatography was used to separate serum from patient 2 and apolipoprotein B and the IgG paraprotein were measured in the fractions eluted. RESULTS: monocytes/macrophages comprised the major cellular component of the lesion, and unusually for xanthomata, areas of collagen necrosis were also seen. Activated mast cells were present at the margins of macrophage clusters and adjacent to areas of collagen necrosis. serum paraprotein was bound to low density lipoproteins as judged by protein A-sepharose chromatography, and was also located within macrophagic foam cells of the lesion on immunohistochemistry. CONCLUSIONS: These observations demonstrate many features similar to atherosclerosis including collagen necrosis and mast cell activation.- - - - - - - - - - ranking = 1keywords = atherosclerosis (Clic here for more details about this article) |
8/40. Sitosterolaemia and xanthomatosis in a child.A 4-year-old boy presented with multiple tuberous xanthomata and a fasting plasma sterol concentration of 18.3 mmol/L, consisting primarily of cholesterol. Two months after changing from an unrestricted diet to a cholesterol-lowering diet, the plasma sterol concentration decreased to 4 mmol/L. fasting plasma cholesterol levels for his father and mother were 7.3 mmol/L and 6.0 mmol/L, respectively. The degree and rapidity of the child's response to dietary control, together with the fasting cholesterol results of both parents suggested a diagnosis of sitosterolaemia. Gas chromatography and mass spectrometry of the patient's plasma sterol levels showed that the percentage of beta-sitosterol was raised at 12.76%, as was campesterol (6.26%), and stigmasterol (0.71%), confirming the diagnosis of sitosterolaemia. The addition of cholestyramine 4 g/day to a low sterol diet maintained the plasma sterol concentration at 4 to 5 mmol/L, and gradual regression of the xanthoma was observed. These findings indicate that a diagnosis of sitosterolaemia, a treatable cause of premature atherosclerosis, should be considered in children with severe hypercholesterolaemia whose plasma cholesterol level is highly responsive to dietary manipulation.- - - - - - - - - - ranking = 1keywords = atherosclerosis (Clic here for more details about this article) |
9/40. Clinical features and genetic analysis of autosomal recessive hypercholesterolemia.Previously we have reported on siblings with severe hypercholesterolemia, xanthomas, and premature atherosclerosis without any impairment of low-density lipoprotein receptor in their fibroblasts as a first characterization of autosomal recessive hypercholesterolemia (ARH). Recently, mutations were identified for this disease in a gene encoding a putative adaptor protein. The purpose of this study was to examine the molecular pathogenesis of ARH in Japanese siblings. A novel insertion mutation was discovered in the ARH gene of the siblings. An insertion of an extra cytosine residue was identified in a locus comprising eight consecutive cytosines at positions 599 through 606 in exon 6, resulting in a sequence of nine cytosines and generating an early stop codon at 657-659. The mother was heterozygous for this mutation. Neither transcription product nor protein of ARH was detected in the fibroblasts of the homozygous patients. A single nucleotide polymorphism was discovered among the normal control subjects at position 604 (cytosine to thymine: ARH-604C to ARH-604T), which changes the proline residue at 202 to serine. Interestingly, ARH is caused by a mutation of cytosine to adenine at this same position. Both siblings exhibited fatty liver, which may also be related to this mutation.- - - - - - - - - - ranking = 1keywords = atherosclerosis (Clic here for more details about this article) |
10/40. Normolipaemic plane xanthomas: an association with increased vascular permeability and serum lipoprotein(a) concentration.We present a normolipaemic young man with extensive facial plane xanthomas and xanthelasmas with a high level of lipoprotein(a) and possibly increased vascular permeability. These associations are of potential importance in understanding the pathogenesis of xanthoma formation and in the identification of patients at risk from coronary atherosclerosis.- - - - - - - - - - ranking = 1keywords = atherosclerosis (Clic here for more details about this article) |
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