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)

To establish low density lipoprotein receptor (LDLR) mutant rats as a hypercholesterolemia and atherosclerosis model, we screened the rat LDLR gene for mutations using an N-ethyl-N-nitrosourea mutagenesis archive of rat gene data, and identified five mutations in its introns and one missense mutation (478T>A) in exon 4. The C160S mutation was located in the ligand binding domain of LDLR and was revealed to be equivalent to mutations (C160Y/G) identified in human familial hypercholesterolemia (FH) patients. The wild type, heterozygous, and homozygous mutant rats were fed a normal chow diet or a high fat high cholesterol (HFHC) diet from the age of 10 weeks for 16 weeks. The LDLR homozygous mutants fed the normal chow diet showed higher levels of plasma total cholesterol and LDL cholesterol than the wild type rats. When fed the HFHC diet, the homozygous mutant rats exhibited severe hyperlipidemia and significant lipid deposition from the aortic arch to the abdominal aorta as well as in the aortic valves. Furthermore, the female homozygous mutants also developed xanthomatosis in their paws. In conclusion, we suggest that LDLR mutant rats are a useful novel animal model of hypercholesterolemia and atherosclerosis.
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PMID:Hypercholesterolemia and atherosclerosis in low density lipoprotein receptor mutant rats. 2229 96

Eruptive xanthomatosis is a papular skin disorder resulting from hyperlipidemia, specifically hypertriglyceridemia. It is characterized by yellowish red papules concentrated on extensor surfaces of the arms and legs. The hyperlipidemia responsible for this disorder can be caused by a primary genetic defect, a secondary disorder, or both. Eruptive xanthomas often rapidly resolve after treatment of the hyperlipidemia has begun.
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PMID:Eruptive xanthoma: a case report. 2253 Mar 33

Tendinous and subcutaneous xanthomas are most commonly associated with primary hyperlipidemia. Xanthomatosis caused by cholesterol deposition can be a high risk marker for cardiovascular disease related to premature atherosclerosis; thus, early recognition of this diagnosis may reduce mortality and morbidity. Achilles tendon involvement is most common, followed by the extensor tendons of the hand and elbow. We present an exceptional case of tendinous and tuberous xanthomas, with intraoperative and histologic correlation, in a 34-year-old female manifesting with xanthomatous deposits of nearly all ankle tendons, plantar aponeurosis, extensor tendons of the hands, and various locations within the integumentum. To the authors' knowledge, only four studies to date have focused specifically on imaging findings of multifocal xanthomas. Thus, the radiographic and MR imaging descriptions of xanthomas in this report further add to the existing literature by helping to identify imaging characteristics of this multifocal systemic disease. The diagnosis of this condition should alert the physician to the presence of a dyslipidemia that can be treated with dietary modifications and/or drug therapy.
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PMID:An exceptional case of xanthomatous infiltration of the musculoskeletal and integumentary systems. 2569 Apr 26

Vast majority of bowel obstruction is due to postoperative adhesions, malignancy, intestinal inflammatory disease, and hernias; however, knowledge of other uncommon causes is critical to establish a prompt treatment and decrease mortality. Xanthomatosis is produced by accumulation of cholesterol-rich foamy macrophages. Intestinal xanthomatosis is an uncommon nonneoplastic lesion that may cause small bowel obstruction and several cases have been reported in the English literature as obstruction in the jejunum. We report a case of small intestinal xanthomatosis occurring in a 51-year-old female who presented with one day of copious vomiting and intermittent abdominal pain. Radiologic images revealed jejunal loop thickening and inflammatory changes suggestive of foreign body obstruction, diagnostic laparoscopy found two strictures at the jejunum, and a pathologic examination confirmed a segmental small bowel xanthomatosis. This case illustrates that obstruction even without predisposing factors such as hyperlipidemia or lymphoproliferative disorders.
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PMID:Small Bowel Obstruction due to Intestinal Xanthomatosis. 2616 22

Gastrointestinal xanthomas are infrequent non-neoplastic lesions characterized by the accumulation of foam cells in the lamina propria. They are commonly seen in association with dyslipidemia, chemotherapy or radiotherapy, and infections in immunosuppressed patients. However, no clear connection to hyperlipidemia has been found. They occur more frequently in the stomach, and are very rare in the small bowel and esophagus. We identified all cases of non-gastric xanthoma or xanthomatosis reported in the English literature by searching the PubMed database and retrospectively reviewed the clinical, endoscopic, and histopathologic features of the 11 cases of non-gastric gastrointestinal xanthomas diagnosed in our hospital. Nine lesions were located in the large bowel, one in the duodenum and one in the esophagus. All xanthomas were small (<5 mm) sessile polyps except the esophageal xanthoma, which measured 13 mm. Two cases in the large bowel and the case in the small bowel were multiple. Most patients with large bowel xanthomas had hypercholesterolemia, unlike esophageal and small bowel cases. The esophageal lesion occurred in a patient with a history of partial fundoplication due to gastroesophageal reflux disease and the small bowel case was associated to chronic atrophic gastritis with intense activity. In our search of the English literature, we found 19 cases of xanthoma or xanthomatosis in the esophagus, 13 cases in the small bowel and 61 cases in the large bowel. In conclusion, gastrointestinal xanthomas, other than the gastric ones, are rare, and are usually incidental findings.
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PMID:Non-gastric Gastrointestinal Xanthomas: Case Series and Literature Review. 2768 5


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