68 results on '"Xanthomatosis physiopathology"'
Search Results
2. Sitosterolemia Exhibiting Severe Hypercholesterolemia with Tendon Xanthomas Due to Compound Heterozygous ABCG5 Gene Mutations Treated with Ezetimibe and Alirocumab.
- Author
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Tanaka H, Watanabe Y, Hirano S, Tada H, Nomura A, Kawashiri MA, and Takenaga M
- Subjects
- Achilles Tendon physiopathology, Anticholesteremic Agents therapeutic use, Cholesterol, LDL blood, Cholesterol, LDL drug effects, Humans, Hypercholesterolemia complications, Hypercholesterolemia diagnosis, Hypercholesterolemia etiology, Hypercholesterolemia genetics, Intestinal Diseases complications, Intestinal Diseases diagnosis, Lipid Metabolism, Inborn Errors complications, Lipid Metabolism, Inborn Errors diagnosis, Male, Middle Aged, Mutation, Phytosterols genetics, Treatment Outcome, Xanthomatosis etiology, Xanthomatosis physiopathology, ATP Binding Cassette Transporter, Subfamily G, Member 5 genetics, Antibodies, Monoclonal, Humanized therapeutic use, Ezetimibe therapeutic use, Hypercholesterolemia drug therapy, Intestinal Diseases drug therapy, Intestinal Diseases genetics, Lipid Metabolism, Inborn Errors drug therapy, Lipid Metabolism, Inborn Errors genetics, Phytosterols adverse effects, Xanthomatosis drug therapy
- Abstract
We herein report a rare case presenting with severe hypercholesterolemia, massive Achilles tendon xanthomas, and multi-vessel coronary artery disease. Initially, the patient was misdiagnosed with familial hypercholesterolemia. However, a genetic analysis using our custom sequencing panel covering genes associated with Mendelian lipid disorders revealed him to have a genetic basis of sitosterolemia with compound heterozygous mutations in the adenosine triphosphate binding cassette subfamily G5 (ABCG5) gene. A comprehensive genetic analysis can be particularly useful for diagnosing cases with severe phenotypes, leading to appropriate and medical therapies. Our patient was refractory to statins, whereas ezetimibe and PCSK9 inhibitor with a low-plant-sterol diet successfully reduced his serum levels of low-density lipoprotein cholesterol.
- Published
- 2020
- Full Text
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3. Tympanoxyloid verruciform xanthoma is a distinct feature of CHILD nevus.
- Author
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Juratli HA, König A, and Happle R
- Subjects
- 3-Hydroxysteroid Dehydrogenases genetics, Abnormalities, Multiple genetics, Female, Genetic Diseases, X-Linked genetics, Humans, Ichthyosiform Erythroderma, Congenital genetics, Limb Deformities, Congenital genetics, Male, Mutation, Xanthomatosis genetics, Abnormalities, Multiple physiopathology, Genetic Diseases, X-Linked physiopathology, Ichthyosiform Erythroderma, Congenital physiopathology, Limb Deformities, Congenital physiopathology, Xanthomatosis physiopathology
- Published
- 2020
- Full Text
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4. Extended resection for xanthogranulomatous cholecystitis mimicking gallbladder carcinoma: Cases and review of diagnostic approach.
- Author
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Khan MR and Begum S
- Subjects
- Adult, Aged, Biopsy methods, Diagnosis, Differential, Female, Humans, Liver pathology, Liver surgery, Male, Middle Aged, Tomography, X-Ray Computed, Treatment Outcome, Unnecessary Procedures, Cholecystectomy methods, Cholecystitis diagnosis, Cholecystitis pathology, Cholecystitis physiopathology, Cholecystitis surgery, Diagnostic Errors prevention & control, Gallbladder pathology, Gallbladder surgery, Gallbladder Neoplasms diagnosis, Hepatectomy methods, Xanthomatosis diagnosis, Xanthomatosis pathology, Xanthomatosis physiopathology, Xanthomatosis surgery
- Abstract
Xanthogranulomatous cholecystitis is a rare variant of chronic cholecystitis, which can involve adjacent organs including liver, colon and duodenum mimicking gallbladder cancer. Preoperative and intraoperative differentiation of xanthogranulomatous cholecystitis from gallbladder cancer is often difficult and the final diagnosis is made on histopathology of the resected specimen. We hereby report four cases of xanthogranulomatous chol ec ystitis w hich were misdiagnosed as cases of advanced gallbladder cancer based on presentation and radiological findings and underwent radical resections but the final histopathology was a diagnostic surprise. Xanthogranulomatous cholecystitis is still a diagnostic challenge as no single modality has been helpful to diagnose this entity till date. Radical resection seems justified in patients who present with the features mimicking gallbladder cancer.
- Published
- 2019
5. Complete resolution of extensive xanthomas associated with primary sclerosing cholangitis following liver transplantation.
- Author
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Ghadiri SJ, Gunputh P, Poyner EFM, and Carmichael AJ
- Subjects
- Atorvastatin administration & dosage, Atorvastatin therapeutic use, Cholangitis, Sclerosing drug therapy, Cholangitis, Sclerosing pathology, Cholangitis, Sclerosing surgery, Humans, Hydroxymethylglutaryl-CoA Reductase Inhibitors therapeutic use, Hypercholesterolemia complications, Hypercholesterolemia diagnosis, Liver Transplantation adverse effects, Male, Treatment Outcome, Xanthomatosis pathology, Xanthomatosis physiopathology, Young Adult, Cholangitis, Sclerosing complications, Hypercholesterolemia blood, Liver Transplantation methods, Xanthomatosis diagnosis
- Published
- 2017
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6. Clinical and molecular genetic features of cerebrotendinous xanthomatosis patients in Chinese families.
- Author
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Chen C, Zhang Y, Wu H, Sun YM, Cai YH, Wu JJ, Wang J, Gong LY, and Ding ZT
- Subjects
- Adult, Age of Onset, Asian People, Cerebellar Ataxia genetics, Cerebellar Ataxia physiopathology, Cholestanol, Cognition Disorders etiology, Cognition Disorders genetics, Disease Progression, Female, Genetic Testing, Humans, Male, Middle Aged, Mutation genetics, Paraparesis, Spastic genetics, Paraparesis, Spastic physiopathology, Pedigree, Polymerase Chain Reaction, Xanthomatosis genetics, Xanthomatosis physiopathology, Xanthomatosis, Cerebrotendinous psychology, Cholestanetriol 26-Monooxygenase genetics, Xanthomatosis, Cerebrotendinous genetics, Xanthomatosis, Cerebrotendinous physiopathology
- Abstract
Cerebrotendinous xanthomatosis (CTX) is a lipid-storage disease caused by mutations in CYP27A1. Current publications of Chinese CTX were mainly based on case reports. Here we investigated the clinical manifestations, genetic features in Chinese CTX patients. The clinical materials of 4 Chinese CTX pedigrees were collected. The genetic testing was done by polymerase chain reaction plus Sanger sequencing. The features of Chinese CTX patients reported previously were also reviewed. Three novel mutations of p.Arg513Cys, c.1477-2A > C in family 1 and p.Arg188Stop in family 4 (NM 000784.3) in CYP27A1 were found. The probands in our study manifested cerebellar ataxia, tendon xanthoma and spastic paresis in family 1 and 4, tendon xanthoma plus spastic paraparesis in family 2, asymptomatic tendon xanthoma in family 3. Three known mutations of p.Arg137Gln, p.Arg127Trp and p.Arg405Gln were found respectively in Family 2, 3 and 4. For the Chinese patients reviewed, the most common findings were xanthomatosis (100%), pyramidal signs (100%), cerebellar ataxia (66.7%), cognitive impairment (66.7%), cataracts (50.0%), and peripheral neuropathy (33.3%). Chronic diarrhea was infrequently seen (5.6%). No mutation was found associated with any given clinical features. We identified 3 novel mutations in CYP27A1. In Chinese CTX patients, xanthomatosis was the most common symptom while cataracts and chronic diarrhea were less frequent. The special features in Chinese CTX patients might caused by the lack of serum cholestanol test and should be confirmed in larger number of patients in the future.
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- 2017
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7. Eruptive Xanthomas in Lipoprotein Lipase Deficiency.
- Author
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Buonuomo PS, Malamisura M, Macchiaiolo M, Rana I, Gonfiantini MV, Mastrogiorgio G, and Bartuli A
- Subjects
- Child, Deficiency Diseases drug therapy, Diet, Reducing, Hand Dermatoses physiopathology, Humans, Hypolipidemic Agents therapeutic use, Male, Prognosis, Rare Diseases, Risk Assessment, Severity of Illness Index, Xanthomatosis physiopathology, Deficiency Diseases complications, Deficiency Diseases diet therapy, Hand Dermatoses etiology, Lipoprotein Lipase deficiency, Xanthomatosis etiology
- Published
- 2017
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8. Severe Hypercholesterolemia and Cutaneous Xanthomas in a 3-Year-Old Boy.
- Author
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Leung-Pineda V and Wilson DP
- Subjects
- Child, Preschool, Humans, Hypercholesterolemia physiopathology, Male, Skin Abnormalities physiopathology, Xanthomatosis physiopathology, Hypercholesterolemia complications, Hypercholesterolemia diagnosis, Liver pathology, Xanthomatosis complications, Xanthomatosis diagnosis
- Published
- 2016
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9. Verruciform xanthoma developing in eroded skin of recessive dystrophic epidermolysis bullosa.
- Author
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Fuyuno Y, Mitoma C, Ito S, Uchi H, Okura M, Yamashita T, and Furue M
- Subjects
- Biopsy, Needle, Disease Progression, Epidermolysis Bullosa Dystrophica genetics, Epidermolysis Bullosa Dystrophica pathology, Female, Humans, Immunohistochemistry, Mutation, Prognosis, Rare Diseases, Risk Assessment, Skin Diseases physiopathology, Xanthomatosis physiopathology, Young Adult, Collagen Type VII genetics, Epidermolysis Bullosa Dystrophica complications, Genetic Predisposition to Disease, Skin Diseases etiology, Xanthomatosis etiology
- Published
- 2015
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10. Are normolipidaemic patients with xanthelasma prone to atherosclerosis?
- Author
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Esmat S, Abdel-Halim MR, Fawzy MM, Nassef S, Esmat S, Ramzy T, and El Fouly ES
- Subjects
- Adult, Atherosclerosis diagnostic imaging, Atherosclerosis physiopathology, Biomarkers blood, Body Mass Index, C-Reactive Protein analysis, Carotid Intima-Media Thickness, Case-Control Studies, Cholesterol blood, Female, Humans, Hypertension diagnosis, Leukocyte Count, Lipoprotein(a) blood, Male, Middle Aged, Obesity complications, Risk Factors, Smoking adverse effects, Xanthomatosis blood, Xanthomatosis physiopathology, Atherosclerosis etiology, Xanthomatosis complications
- Abstract
Background: When patients with xanthelasma are found to have normal lipid levels, dermatologists usually proceed with their treatment without further investigations. However, there is some evidence that normolipidaemic patients with xanthelasma (NPX) have a similar cardiovascular risk to hyperlipidaemic patients with xanthelasma (HPX)., Aim: To evaluate the risk of atherosclerosis in Egyptian NPX compared with HPX and controls., Methods: In total, 20 NPX, 20 HPX and 40 normolipidaemic controls were enrolled. All participants were matched for age and sex. Diabetes was an exclusion factor. Carotid ultrasonography was used to measure intima-media thickness (IMT). Other risk factors of atherosclerosis such as high blood pressure, obesity and smoking were also assessed, as well as atherosclerotic markers, including total leucocytic count (TLC), C-reactive protein and lipoprotein a., Results: Although still within the normal range, total cholesterol and triglycerides were significantly higher in NPX compared with controls. IMT was significantly higher in NPX compared with controls, but lower than that of HPX. The increased IMT in NPX was not related to any of the studied risk factors. Apart from significantly higher body mass index and TLC, NPX showed no significant differences from controls for other risk factors of atherosclerosis or for atherosclerotic markers., Conclusion: NPX seem to have a higher risk of atherosclerosis independent of lipid concentrations, and should therefore be fully investigated in order to allow detection and early management of such risk., (© 2015 British Association of Dermatologists.)
- Published
- 2015
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11. Adult orbital xanthogranuloma successfully treated with rituximab.
- Author
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Satchi K, McNab AA, Godfrey T, and Prince HM
- Subjects
- Adult, Antigens, CD20 immunology, Female, Granuloma physiopathology, Humans, Infusions, Intravenous, Male, Middle Aged, Orbital Diseases physiopathology, Rituximab, Visual Acuity physiology, Xanthomatosis physiopathology, Antibodies, Monoclonal, Murine-Derived therapeutic use, Granuloma drug therapy, Immunologic Factors therapeutic use, Orbital Diseases drug therapy, Xanthomatosis drug therapy
- Published
- 2014
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12. Diabetic eruptive xanthoma.
- Author
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Kuo CC, Tsai CW, and Su TC
- Subjects
- Adult, Dermis pathology, Diabetes Complications blood, Glycated Hemoglobin, Humans, Hypertriglyceridemia complications, Macrophages pathology, Male, Skin Diseases blood, Skin Diseases physiopathology, Xanthomatosis blood, Xanthomatosis physiopathology, Skin Diseases etiology, Xanthomatosis etiology
- Published
- 2011
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13. Primary xanthofibroma in the calcaneus: a case report.
- Author
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Kapukaya A, Arslan H, Özkul E, and Mizrak B
- Subjects
- Arthralgia surgery, Calcaneus pathology, Calcaneus physiopathology, Curettage, Diagnosis, Differential, Humans, Male, Skin Transplantation, Tomography, X-Ray Computed, Young Adult, Arthralgia etiology, Bone Neoplasms diagnosis, Calcaneus surgery, Xanthomatosis complications, Xanthomatosis diagnosis, Xanthomatosis pathology, Xanthomatosis physiopathology, Xanthomatosis surgery
- Abstract
Xanthoma or xanthofibroma is a lesion, characterized by foamy histiocytes (xanthoma cell) and is mostly seen in soft tissue. Xanthoma may also occur in in the skeletal system of patients with an abnormal lipid metabolism. We present a 22-year-old man with primary xanthofibroma in the calcaneus, who was treated by curettage and grafting of the lesion.
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- 2011
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14. Diffuse xanthomatosis as a presenting feature of multiple myeloma.
- Author
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Segner S, Theate I, Poiré X, Tennstedt D, Marot L, and Caers J
- Subjects
- Humans, Male, Middle Aged, Multiple Myeloma complications, Multiple Myeloma physiopathology, Xanthomatosis physiopathology, Multiple Myeloma diagnosis, Xanthomatosis complications
- Published
- 2010
- Full Text
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15. Orange-yellow diffuse cutaneous eruption in an 82-year-old woman.
- Author
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Kovalyshyn I, Busam KJ, and Marghoob AA
- Subjects
- Aged, 80 and over, Biopsy, Needle, Dexamethasone therapeutic use, Disease Progression, Drug Therapy, Combination, Female, Follow-Up Studies, Granuloma Annulare physiopathology, Humans, Immunohistochemistry, Melphalan therapeutic use, Risk Assessment, Severity of Illness Index, Treatment Outcome, Xanthomatosis physiopathology, Granuloma Annulare drug therapy, Granuloma Annulare pathology, Xanthomatosis drug therapy, Xanthomatosis pathology
- Published
- 2009
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16. The potential anti-xanthoma and anti-atherosclerotic effects of proton pump inhibitors.
- Author
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Namazi MR and Sharifian M
- Subjects
- Atherosclerosis physiopathology, Foam Cells drug effects, Foam Cells metabolism, Humans, Lipoproteins, LDL drug effects, Lipoproteins, LDL metabolism, Lysosomes metabolism, Macrophages drug effects, Macrophages metabolism, Xanthomatosis physiopathology, Atherosclerosis drug therapy, Proton Pump Inhibitors pharmacology, Xanthomatosis drug therapy
- Abstract
Xanthoma and atherosclerosis are similar in having infiltrations of macrophages that have transformed into foam cells. The oxidized low-density lipoprotein (LDL) promotes adhesion of monocytes to endothelial cells by inducing expression of adhesion molecules on vascular endothelial cells. Macrophages transform into foam cells by incorporating oxidized LDL using several kinds of scavenger receptors. Very recently, it has been shown that LDL oxidation occurs within lysosomes in macrophages in atherosclerotic lesions and the increase of intra-lysosomal PH can prevent LDL oxidation. Given that proton pump inhibitors can decrease the intra-lysosomal acidicty through inhibition of the lysosomal membrane H+/K+ATPase, theses agents could afford protection against atherosclerosis and xanthoma formation.
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- 2008
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17. Hypothesis: can kojic acid prevent xanthelasma formation?
- Author
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Namazi MR and Sharifian M
- Subjects
- Antioxidants pharmacology, Chelating Agents pharmacology, Eyelid Diseases physiopathology, Humans, Lipoproteins, LDL drug effects, Pyrones pharmacology, Skin Pigmentation drug effects, Treatment Outcome, Xanthomatosis physiopathology, Antioxidants therapeutic use, Chelating Agents therapeutic use, Eyelid Diseases drug therapy, Pyrones therapeutic use, Xanthomatosis drug therapy
- Published
- 2008
18. Xanthelasma palpebrarum and its relation to atherosclerotic risk factors and lipoprotein (a).
- Author
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Ozdöl S, Sahin S, and Tokgözoğlu L
- Subjects
- Adult, Atherosclerosis blood, Atherosclerosis physiopathology, Case-Control Studies, Cholesterol, HDL blood, Cholesterol, LDL blood, Eyelid Diseases epidemiology, Eyelid Diseases physiopathology, Female, Follow-Up Studies, Humans, Hyperlipidemias blood, Hyperlipidemias physiopathology, Male, Middle Aged, Reference Values, Retrospective Studies, Risk Assessment, Sensitivity and Specificity, Severity of Illness Index, Xanthomatosis epidemiology, Xanthomatosis physiopathology, Atherosclerosis complications, Eyelid Diseases etiology, Hyperlipidemias complications, Lipoproteins blood, Xanthomatosis etiology
- Abstract
Objectives: To investigate the association between xanthelasma, atherosclerotic risk factors, and lipoprotein (Lp) (a), and to determine whether xanthelasma may be a cutaneous marker for atherosclerosis., Methods: One hundred consecutive patients with xanthelasma and 100 age- and sex-matched patients without xanthelasma, seen during the same time period (controls), were included in this study. The prevalence of cardiac risk factors, the rates of atherosclerotic disease, Framingham risk scores, and Lp (a) levels were compared between the patient groups., Results: Hyperlipidemia was found to be significantly more common in patients with xanthelasma (P = 0.001); however, the rate of clinically overt cardiovascular disease and future cardiovascular risk, assessed by the Framingham risk score, were similar between the groups. No significant difference was observed in serum Lp (a) levels between the groups., Conclusions: In patients with xanthelasma, no increase was observed in the rate or risk of cardiovascular disease. Moreover, no relationship was found between Lp (a) levels and xanthelasma.
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- 2008
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19. Xanthogranulomatous cholecystitis expressing high levels of DUPAN-II.
- Author
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Uwagawa T, Misawa T, Nojiri T, Kitajima K, Kawakami M, and Yanaga K
- Subjects
- Aged, Antigens, Neoplasm blood, Biomarkers, Tumor blood, Biomarkers, Tumor metabolism, Cholecystectomy, Cholecystitis diagnostic imaging, Endosonography, Epithelium metabolism, Female, Gallbladder pathology, Granuloma diagnostic imaging, Half-Life, Histiocytes metabolism, Humans, Laparotomy, Microvilli metabolism, Xanthomatosis diagnostic imaging, Antigens, Neoplasm metabolism, Cholecystitis physiopathology, Granuloma physiopathology, Xanthomatosis physiopathology
- Abstract
We report a case of xanthogranulomatous cholecystitis (XGC) showing high levels of serum DUPAN-II in a 65-year-old woman. Preoperative radiologic examination showed no abnormal findings except in the gallbladder. Endoscopic ultrasonography was effective for differentiating chronic cholecystitis from gallbladder cancer before the operation. Cholecystectomy was performed by laparotomy, and the diagnosis of XGC was confirmed intraoperatively by examining a frozen section. Histologically, no cancer lesion was observed in the gallbladder, while immunochemical reactivity to DUPAN-II was demonstrated in the brush-border area of the epithelium and in histiocytes in the gallbladder. The half-life of serum DUPAN-II in our patient after cholecystectomy was approximately 1 month, and finally dropped to within the normal range after cholecystectomy.
- Published
- 2007
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20. Plaque rupture in humans and mice.
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Schwartz SM, Galis ZS, Rosenfeld ME, and Falk E
- Subjects
- Animals, Artifacts, Humans, Mice, Peptide Hydrolases metabolism, Rupture, Spontaneous, Xanthomatosis physiopathology, Atherosclerosis physiopathology
- Abstract
Despite the many studies of murine atherosclerosis, we do not yet know the relevance of the natural history of this model to the final events precipitated by plaque disruption of human atherosclerotic lesions. The literature has become particularly confused because of the common use of terms such as "instability", "vulnerable", "rupture", or even "thrombosis" for features of plaques in murine model systems not yet shown to rupture spontaneously and in an animal surprisingly resistant to formation of thrombi at sites of atherosclerosis. We suggest that use of conclusory terms like "vulnerable" and "stable" should be discouraged. Similarly, terms such as "buried fibrous caps" that imply preceding events that are unproven tend to create confusion. We will argue that such terminology may mislead readers by implying knowledge that does not yet exist. We suggest, instead, a focus on specific processes that various forms of data have implicated in plaque progression. For example, formation of the fibrous cap, protease activation, and cell death in the necrotic core can be well described and have all been modeled in well-defined experiments. The relevance of such well-defined, objective, descriptive observations in the mouse can be tested for relevance against data from human pathology.
- Published
- 2007
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21. Unilateral xanthelasma sparing a paralysed eyelid.
- Author
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Cho YH, Lee HJ, Kim DS, and Lee MG
- Subjects
- Eyelid Diseases physiopathology, Female, Humans, Middle Aged, Paralysis physiopathology, Xanthomatosis physiopathology, Eyelid Diseases diagnosis, Paralysis diagnosis, Xanthomatosis diagnosis
- Published
- 2007
- Full Text
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22. Non-Hodgkin lymphoma and skin cancer: A dangerous combination.
- Author
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Otley CC
- Subjects
- Carcinoma, Basal Cell complications, Carcinoma, Basal Cell diagnosis, Carcinoma, Basal Cell physiopathology, Carcinoma, Basal Cell therapy, Carcinoma, Merkel Cell complications, Carcinoma, Merkel Cell diagnosis, Carcinoma, Merkel Cell physiopathology, Carcinoma, Merkel Cell therapy, Carcinoma, Squamous Cell complications, Carcinoma, Squamous Cell diagnosis, Carcinoma, Squamous Cell physiopathology, Carcinoma, Squamous Cell therapy, Combined Modality Therapy, Humans, Lymphoma, Non-Hodgkin complications, Lymphoma, Non-Hodgkin physiopathology, Melanoma complications, Melanoma diagnosis, Melanoma physiopathology, Melanoma therapy, Prognosis, Sarcoma, Kaposi complications, Sarcoma, Kaposi diagnosis, Sarcoma, Kaposi physiopathology, Sarcoma, Kaposi therapy, Skin Neoplasms complications, Skin Neoplasms physiopathology, Xanthomatosis complications, Xanthomatosis diagnosis, Xanthomatosis physiopathology, Xanthomatosis therapy, Lymphoma, Non-Hodgkin diagnosis, Lymphoma, Non-Hodgkin therapy, Skin Neoplasms diagnosis, Skin Neoplasms therapy
- Abstract
There is a significant association between non-Hodgkin lymphoma, including chronic lymphocytic leukaemia, and both melanoma and non-melanoma skin cancer. This review highlights the existing data on the phenomenon of accelerated skin cancer in patients with non-Hodgkin lymphoma and specifically chronic lymphocytic leukaemia. The outcomes of patients with non-Hodgkin lymphoma (including chronic lymphocytic leukaemia) and non-melanoma skin cancer are worse than in patients without concomitant lymphoreticular malignancy, as shown by increased rates of local recurrence, regional metastasis and death. Pathogenic factors may be common between non-Hodgkin lymphoma and chronic lymphocytic leukaemia and skin cancer. The treatment of skin cancer in patients with non-Hodgkin lymphoma must factor in the worse prognosis and adapt standard therapeutic approaches to minimize the risk of metastasis and death. Preventive strategies and early detection are paramount in this high-risk population.
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- 2006
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23. Xanthogranulomatous sialadenitis: a case report and literature review.
- Author
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Cocco AE, MacLennan GT, Lavertu P, and Wasman JK
- Subjects
- Biopsy, Fine-Needle, Granuloma pathology, Granuloma physiopathology, Humans, Male, Middle Aged, Parotid Neoplasms pathology, Parotid Neoplasms physiopathology, Sialadenitis pathology, Sialadenitis physiopathology, Xanthomatosis pathology, Xanthomatosis physiopathology, Granuloma diagnosis, Parotid Neoplasms diagnosis, Sialadenitis diagnosis, Xanthomatosis diagnosis
- Abstract
Xanthogranulomatous tissue reaction is an uncommon but well-documented process that occurs at many sites in the body. It is most often recognized in the kidney and gallbladder, where its etiology is believed to involve an outflow obstruction. We report the case of a man with a parotid mass that exhibited features consistent with an inflammatory process on fine-needle aspiration biopsy. The mass persisted despite medical management, and the patient subsequently underwent a superficial parotidectomy. Histologic examination of the resected specimen identified a xanthogranulomatous tissue reaction adjacent to a Warthin's tumor. We compare the features of this case with those of the 2 previously reported cases of xanthogranulomatous sialadenitis, and we discuss its possible etiologies.
- Published
- 2005
24. A novel ARH splice site mutation in a Mexican kindred with autosomal recessive hypercholesterolemia.
- Author
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Canizales-Quinteros S, Aguilar-Salinas CA, Huertas-Vázquez A, Ordóñez-Sánchez ML, Rodríguez-Torres M, Venturas-Gallegos JL, Riba L, Ramírez-Jimenez S, Salas-Montiel R, Medina-Palacios G, Robles-Osorio L, Miliar-García A, Rosales-León L, Ruiz-Ordaz BH, Zentella-Dehesa A, Ferré-D'Amare A, Gómez-Pérez FJ, and Tusié-Luna MT
- Subjects
- Adult, Amino Acid Sequence, Consanguinity, Female, Humans, Hypercholesterolemia physiopathology, Male, Mexico, Molecular Sequence Data, Pedigree, Protein Structure, Tertiary, Xanthomatosis genetics, Xanthomatosis physiopathology, Adaptor Proteins, Signal Transducing genetics, Genes, Recessive, Hypercholesterolemia genetics, Mutation, RNA Splice Sites genetics
- Abstract
Autosomal recessive hypercholesterolemia (ARH) is characterized by elevated LDL serum levels, xanthomatosis, and premature coronary artery disease. Three loci have been described for this condition (1p35, 15q25-q26 and 13q). Recently, the responsible gene at the 1p35 locus, encoding an LDL receptor adaptor protein (ARH) has been identified. We studied a Mexican ARH family with two affected siblings. Sequence analysis of the ARH gene (1p35 locus) revealed that the affected siblings are homozygous for a novel mutation (IVS4+2T>G) affecting the donor splice site in intron 4, whereas both the parents and an unaffected sister are heterozygous for this mutation. The IVS4+2T>G mutation results in a major alternative transcript derived from a cryptic splice site, which carries an in-frame deletion of 78 nucleotides in the mature mRNA. The translation of this mRNA yields a mutant protein product (ARH-26) lacking 26 amino acids, resulting in the loss of beta-strands beta6 and beta7 from the PTB domain. This is the first case where a naturally occurring mutant with an altered PTB domain has been identified.
- Published
- 2005
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25. Phenotypic heterogeneity of sitosterolemia.
- Author
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Wang J, Joy T, Mymin D, Frohlich J, and Hegele RA
- Subjects
- ATP Binding Cassette Transporter, Subfamily G, Member 5, ATP Binding Cassette Transporter, Subfamily G, Member 8, ATP-Binding Cassette Transporters genetics, ATP-Binding Cassette Transporters metabolism, Adult, Aged, Aged, 80 and over, Amino Acid Sequence, Base Sequence, Child, Child, Preschool, Female, Humans, Lipoproteins genetics, Lipoproteins metabolism, Male, Middle Aged, Molecular Sequence Data, Pedigree, Phenotype, Sitosterols blood, Xanthomatosis physiopathology
- Abstract
Sitosterolemia is a rare autosomal recessive disorder of lipoprotein metabolism characterized by xanthomas and increased plasma concentrations of plant sterols, such as sitosterol. Causative mutations occur in either the ABCG5 or ABCG8 gene, each of which encodes a sterol half-transporter expressed in the intestine. We report five Canadian subjects with nonsense mutations in these half-transporters: four related Caucasian subjects were homozygous for the ABCG8 S107X mutation, and one unrelated Japanese-Canadian subject was homozygous for a complex insertion/deletion (I/D) mutation in ABCG5 exon 3. A female subject with each mutation was symptomatic with coronary atherosclerosis: a 5-year-old ABCG8 S107X homozygote and a 75-year-old ABCG5 exon 3 I/D homozygote; these represent the extreme ends of the spectrum of vascular involvement in sitosterolemia. The largest reductions in plasma concentrations of sitosterol and LDL-cholesterol were seen with ezetimibe or bile acid sequestrant treatment, and less dramatic reductions were seen with statin drug treatment. These findings extend the range of clinical phenotypes in sitosterolemia caused by nonsense mutations in either ABCG5 or ABCG8.
- Published
- 2004
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26. Enhanced susceptibility of LDL to oxidative modification in a CTX patient:- role of chenodeoxycholic acid in xanthoma formation.
- Author
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Kinoshita M, Kawamura M, Fujita M, Hirota D, Suda T, Taki M, Kusano J, Takao K, Takenaka H, Kubota S, and Teramoto T
- Subjects
- Carrier Proteins metabolism, Cholesterol Ester Transfer Proteins, Cholesterol, LDL drug effects, Glycoproteins metabolism, Humans, Macrophages metabolism, Treatment Outcome, Xanthomatosis physiopathology, Xanthomatosis, Cerebrotendinous drug therapy, Chenodeoxycholic Acid administration & dosage, Cholesterol, LDL metabolism, Gastrointestinal Agents administration & dosage, Oxidative Stress drug effects, Xanthomatosis, Cerebrotendinous metabolism
- Abstract
Cerebrotendinous xanthomatosis (CTX) is a rare familial sterol storage disease, causing multiple xanthomas in tendons and the brain. The underlying biochemical defect is a lack of the hepatic mitochondrial cholesterol 27-hydroxylase involved in the normal biosynthesis of bile acid, resulting in reduced biosynthesis of chenodeoxycholic acid (CDCA). It has been reported that administration of CDCA to CTX patients improves neurological disorders and xanthomas of the Achilles tendon. The present study investigated the effect of CDCA on the mechanism of cholesterol accumulation in macrophages, the major cells in xanthoma. The LDL from the patients in this study was significantly more susceptible to oxidative modification than normal LDL, and supplement therapy with CDCA resulted in an improvement in the susceptibility to oxidative modification. In the incubation of CDCA with plasma, 13% of the CDCA added to serum was recovered in the LDL fraction. In addition, supplementation with CDCA enhanced cholesteryl ester transfer protein (CETP) activity and reduced high-density-lipoprotein cholesterol levels in the plasma. This evidence suggests that the multiple xanthomas observed in CTX may be induced by increased oxidized LDL and the low activity of CETP, both of which are caused by a lack of CDCA.
- Published
- 2004
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27. Cerebrotendinous xanthomatosis: a rare disease with diverse manifestations.
- Author
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Moghadasian MH, Salen G, Frohlich JJ, and Scudamore CH
- Subjects
- Brain Diseases drug therapy, Brain Diseases metabolism, Brain Diseases physiopathology, Diagnosis, Differential, Humans, Hyperlipoproteinemia Type II diagnosis, Musculoskeletal Diseases diagnosis, Sitosterols blood, Xanthomatosis drug therapy, Xanthomatosis metabolism, Xanthomatosis physiopathology, Brain Diseases diagnosis, Chenodeoxycholic Acid therapeutic use, Cholestanol metabolism, Tendons physiopathology, Xanthomatosis diagnosis
- Abstract
This mini-review deals with a new appraisal of cerebrotendinous xanthomatosis. In addition to neurologic symptoms, patients with cerebrotendinous xanthomatosis develop cataracts, diarrhea, Achilles tendon xanthoma, atherosclerotic vascular disease, and many other abnormalities. Although the pathophysiology of the disease is not completely understood, excess production and consequent accumulation of cholestanol in tissues may play a crucial role. Chenodeoxycholic acid is the most effective therapy. The causative role and detrimental effects (at a low plasma level) of cholestanol merit further investigation.
- Published
- 2002
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28. [Xanthomatosis].
- Author
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Kodama H
- Subjects
- Diagnosis, Differential, Humans, Hyperlipoproteinemias complications, Hyperlipidemias complications, Xanthomatosis diagnosis, Xanthomatosis etiology, Xanthomatosis physiopathology
- Published
- 2001
29. Images in hepatology. Regression of xanthelasmas in a patient with primary biliary cirrhosis after liver transplantation.
- Author
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Schmidt HH and Manns MP
- Subjects
- Eyelid Diseases physiopathology, Female, Humans, Middle Aged, Remission, Spontaneous, Xanthomatosis physiopathology, Eyelid Diseases complications, Liver Cirrhosis, Biliary complications, Liver Cirrhosis, Biliary surgery, Liver Transplantation physiology, Xanthomatosis complications
- Published
- 1998
- Full Text
- View/download PDF
30. Resolution of xanthomas in Alagille syndrome after liver transplantation.
- Author
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Buckley DA, Higgins EM, and du Vivier AW
- Subjects
- Child, Follow-Up Studies, Hand Dermatoses physiopathology, Humans, Male, Xanthomatosis physiopathology, Alagille Syndrome complications, Alagille Syndrome surgery, Hand Dermatoses etiology, Liver Transplantation adverse effects, Xanthomatosis etiology
- Abstract
Alagille syndrome (arteriohepatic dysplasia) is a genetic disorder with autosomal dominant transmission which has been localized to chromosome 20p. Cutaneous manifestations include jaundice, pruritus, and widespread xanthomata. We report a child with severe Alagille syndrome in whom orthotopic liver transplantation caused rapid resolution of disfiguring xanthomas.
- Published
- 1998
- Full Text
- View/download PDF
31. The clinical expression of primary biliary cirrhosis.
- Author
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Heathcote J
- Subjects
- Abdominal Pain physiopathology, Autoantibodies blood, Bile Ducts, Intrahepatic physiopathology, Bone Diseases, Metabolic physiopathology, Cholestasis physiopathology, Disease Progression, Forecasting, Humans, Hyperbilirubinemia physiopathology, Hypertension, Portal physiopathology, Hypothyroidism physiopathology, Kidney Diseases physiopathology, Liver Cirrhosis physiopathology, Liver Cirrhosis, Biliary immunology, Lung Diseases physiopathology, Mitochondria, Liver immunology, Neuromuscular Diseases physiopathology, Prognosis, Pruritus physiopathology, Rheumatic Diseases physiopathology, Skin Diseases physiopathology, Xanthomatosis physiopathology, Autoimmune Diseases physiopathology, Liver Cirrhosis, Biliary physiopathology
- Abstract
Primary biliary cirrhosis (PBC) is likely an autoimmune disease that destroys the interlobular bile ducts. Although the term PBC implies cirrhosis, this is not always present. The condition may be entirely silent clinically, save for the hallmark mitochondrial antibodies in serum. The clinical spectrum of PBC ranges from asymptomatic anicteric cholestasis with or without extrahepatic manifestations to severe cholestasis with decompensated cirrhosis. It is uncertain whether or not the course of this disease is universally fatal. Currently, no specific features have been identified which predict progression from asymptomatic to symptomatic disease, although once hyperbilirubinemia is present, a rising level indicates a poor prognosis. The liver-specific complications include pruritus, abdominal pain, xantholasma, and portal hypertension. The latter is often an early feature, as the portal hypertension is presinusoidal in nature and, when present, does not always reflect the presence of cirrhosis. There are many extrahepatic features of PBC, the most common being metabolic, chiefly hypothyroidism and metabolic bone disease. Other common associations are rheumatologic, renal, pulmonary, neuromuscular, and dermatologic. The non-specific yet distressing symptom of fatigue affects up to two-thirds of PBC subjects, but its etiology remains obscure.
- Published
- 1997
- Full Text
- View/download PDF
32. A comparative study of the therapeutic effect of probucol and pravastatin on xanthelasma.
- Author
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Fujita M and Shirai K
- Subjects
- Adult, Aged, Anticholesteremic Agents administration & dosage, Female, Follow-Up Studies, Humans, Male, Middle Aged, Pravastatin administration & dosage, Probucol administration & dosage, Skin Diseases diagnosis, Skin Diseases physiopathology, Treatment Outcome, Xanthomatosis diagnosis, Xanthomatosis physiopathology, Anticholesteremic Agents therapeutic use, Pravastatin therapeutic use, Probucol therapeutic use, Skin Diseases drug therapy, Xanthomatosis drug therapy
- Abstract
We examined and compared the effects of probucol and pravastatin on the regression of xanthelasma. Thirty-six cases treated by probucol and 18 cases by pravastatin were evaluated for 12 months. Thirteen of the 36 cases treated with probucol showed regression of xanthelasma. However, one of the 18 cases treated with pravastatin showed regression. These data were statistically significantly. The average total cholesterol value in both groups decreased during drug therapy. However, the average of HDL-cholesterol values in the probucol treatment group showed significant decreases, but those in the pravastatin treatment group did not. We discussed the mechanisms of the two drugs on the regression of xanthelasma and the mechanisms of development of xanthelasma.
- Published
- 1996
- Full Text
- View/download PDF
33. [Pharyngolaryngeal xanthomatosis: a case report].
- Author
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Fernández Pérez A, Fernández-Nogueras Jiménez F, Moreno León JA, Perales Jodar E, and Fernández Sánchez A
- Subjects
- Humans, Larynx surgery, Male, Middle Aged, Pharynx surgery, Xanthomatosis surgery, Larynx physiopathology, Pharynx physiopathology, Xanthomatosis physiopathology
- Abstract
A case occurring in a 62 year-old male with a xantomatous infiltrate taking the pharyngolarynx is reported. Basic features of xantomatosis are described as other manifestations encountered in the ENT-area.
- Published
- 1996
34. [Xanthogranulomatous cholecystitis].
- Author
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Iwamoto S and Tsunoda T
- Subjects
- Diagnosis, Differential, Humans, Male, Middle Aged, Cholecystitis diagnosis, Cholecystitis physiopathology, Granuloma diagnosis, Granuloma physiopathology, Xanthomatosis diagnosis, Xanthomatosis physiopathology
- Published
- 1996
35. 'Normolipidemic' tendinous and tuberous xanthomatosis.
- Author
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Mancuso G, La Regina G, Bagnoli M, Bittolo Bon G, Cazzolato G, Preda P, Berdondini RM, Sangiorgi Z, and Gaddi A
- Subjects
- Achilles Tendon, Diagnosis, Differential, Elbow, Humans, Lipoproteins analysis, Male, Middle Aged, Reference Values, Skin Diseases diagnosis, Skin Diseases physiopathology, Xanthomatosis diagnosis, Xanthomatosis physiopathology, Lipoproteins blood, Skin Diseases etiology, Xanthomatosis etiology
- Abstract
Background: Multiple tendinous and tuberous xanthomas are characteristically associated with hyperlipidemic states. However, normolipidemic tendinous and tuberous xanthomas have been reported in the literature, with normal levels of cholesterol, cholestanol and plant sterols., Objective and Method: To delineate the disorder and to suggest its likely origin, a case of apparently normolipidemic severe tuberous and tendinous xanthomatosis was studied. Several lipoprotein and lipid analyses, clinical tests and histological studies were performed over a period of 5 years in the propositus and his family., Results: At the first lipid analysis, no quantitative or qualitative alterations of the lipoprotein fractions or of the apoproteins AI, B, CII, CIII, E were detected in the propositus and xanthomatosis was classified as normolipidemic. During the follow-up, the patient showed a nonconstant hypertriglyceridemia and/or hypercholesterolemia associated with the presence of small and dense VLDL and LDL. An increase in apo-B was observed. There was an unusual quantity of conjugated dienes of arachidonic acid in the plasma and in the LDLs of the patient, present only in small traces in the control population. The family study and the long follow-up of the lipid analysis of the propositus were compatible with the diagnosis of familial combined hyperlipidemia., Conclusion: Our data highlight the importance of a critical review of studies regarding normolipidemic xanthomatosis, since only after an extensive follow-up and sequential analyses of lipoprotein fractions is it possible to exclude the presence of time variables and complex lipoprotein abnormalities.
- Published
- 1996
- Full Text
- View/download PDF
36. Adult xanthogranulomatosis with an unusual clinical appearance.
- Author
-
Yamamoto T and Furui Y
- Subjects
- Adult, Age of Onset, Diagnosis, Differential, Female, Granuloma physiopathology, Humans, Skin Diseases physiopathology, Xanthomatosis physiopathology, Granuloma pathology, Skin Diseases pathology, Xanthomatosis pathology
- Published
- 1994
- Full Text
- View/download PDF
37. Treatment of cerebrotendinous xanthomatosis: effects of chenodeoxycholic acid, pravastatin, and combined use.
- Author
-
Kuriyama M, Tokimura Y, Fujiyama J, Utatsu Y, and Osame M
- Subjects
- Adult, Apolipoproteins blood, Brain Diseases blood, Brain Diseases physiopathology, Cholestanol blood, Cholesterol blood, Drug Therapy, Combination, Electrophysiology, Humans, Lipids blood, Lipoproteins blood, Male, Middle Aged, Muscular Diseases blood, Muscular Diseases drug therapy, Muscular Diseases physiopathology, Phytosterols blood, Xanthomatosis blood, Xanthomatosis physiopathology, Brain Diseases drug therapy, Chenodeoxycholic Acid therapeutic use, Pravastatin therapeutic use, Tendons, Xanthomatosis drug therapy
- Abstract
Treatments by oral administration of chenodeoxycholic acid (CDCA) alone, 3-hydroxy-3-methylglutaryl (HMG) CoA reductase inhibitor (pravastatin) alone, and combination of the two drugs were attempted for 7 patients with cerebrotendinous xanthomatosis (CTX). CDCA treatment at a dose of 300 mg/day reduced serum cholestanol (67.3% reduction), lathosterol (50.8%), campesterol (61.7%) and sitosterol (12.7%). However, the sera of the patients changed to be "atherogenic"; total cholesterol, triglyceride and low-density lipoprotein (LDL)-cholesterol were increased, while high-density lipoprotein (HDL)-cholesterol was decreased. Contrarily, pravastatin at a dose of 10 mg/day improved the sera of the patients to be markedly "anti-atherogenic", but the reductions of cholestanol (30.4%), lathosterol (44.0%), campesterol (22.9%) and sitosterol (9.6%) were inadequate. Combined treatment with CDCA and pravastatin showed good overlapping of the effects of each drug alone. The sera of the patients were apparently more "anti-atherogenic" than those after CDCA treatment. Serum cholestanol concentration was still 2.7 times higher than in controls, but the serum lathosterol level was within the normal range, indicating that the enhancement of overall cholesterol synthesis in the patients was sufficiently suppressed. Plant sterol levels were also within the normal range. The combination of CDCA and pravastatin was a good treatment for CTX, based on the improvement of serum lipoprotein metabolism, the suppression of cholesterol synthesis, and reductions of cholestanol and plant sterol levels. In all of 7 patients, the progression of disease was arrested, but dramatic effects on clinical manifestations, xanthoma, and electrophysiological findings could not be found after the treatment of these drugs.
- Published
- 1994
- Full Text
- View/download PDF
38. Cerebrotendinous xanthomatosis: molecular diagnosis enables presymptomatic detection of a treatable disease.
- Author
-
Meiner V, Meiner Z, Reshef A, Björkhem I, and Leitersdorf E
- Subjects
- Action Potentials, Adolescent, Child, Cholestanol blood, Cholesterol blood, Consanguinity, Electroencephalography, Exons, Female, Genotype, Humans, Israel, Jews, Male, Median Nerve physiopathology, Middle Aged, Morocco ethnology, Motor Neurons physiology, Neural Conduction, Neurons, Afferent physiology, Neuropsychological Tests, Pedigree, Peroneal Nerve physiopathology, Tibial Nerve physiopathology, Xanthomatosis genetics, Xanthomatosis physiopathology, Point Mutation, Polymerase Chain Reaction methods, Xanthomatosis diagnosis
- Abstract
We report an early molecular diagnosis of cerebrotendinous xanthomatosis (CTX) in a Jewish Moroccan family with two affected siblings. The proband displayed characteristic manifestations of the disease, whereas a younger brother, homozygous for the mutant allele, was asymptomatic. Clinical studies in the younger patient disclosed mild cognitive impairment, peripheral neuropathy, and abnormal EEG. Elevated plasma cholestanol levels were evident in both affected patients, with documented normal levels in the molecularly diagnosed heterozygous family members. Molecular characterization of affected CTX families provides early diagnosis and treatment of homozygotes in the presymptomatic state as well as identification of heterozygotes, which is crucial for genetic counseling and for prenatal diagnosis.
- Published
- 1994
- Full Text
- View/download PDF
39. Frameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in Jews or Moroccan origin.
- Author
-
Leitersdorf E, Reshef A, Meiner V, Levitzki R, Schwartz SP, Dann EJ, Berkman N, Cali JJ, Klapholz L, and Berginer VM
- Subjects
- Adult, Amino Acid Sequence, Base Sequence, Cholestanetriol 26-Monooxygenase, Chromosome Mapping, Exons genetics, Female, Gene Library, Genome, Human, Heterozygote, Humans, Introns genetics, Israel, Molecular Sequence Data, Morocco ethnology, Polymerase Chain Reaction, Sequence Analysis, DNA, Xanthomatosis diagnosis, Xanthomatosis physiopathology, Cytochrome P-450 Enzyme System genetics, Frameshift Mutation genetics, Genes, Recessive genetics, Jews genetics, RNA Splicing genetics, Steroid Hydroxylases genetics, Xanthomatosis genetics
- Abstract
The sterol 27-hydroxylase (EC 1.14.13.15) catalyzes steps in the oxidation of sterol intermediates that form bile acids. Mutations in this gene give rise to the autosomal recessive disease cerebrotendinous xanthomatosis (CTX). CTX is characterized by tendon xanthomas, cataracts, a multitude of neurological manifestations, and premature atherosclerosis. A relatively high prevalence of the disease has been noted in Jews originating from Morocco. The major objectives of the present investigation were to determine the gene structure and characterize the common mutant alleles that cause CTX in Moroccan Jews. The gene contains nine exons and eight introns and encompasses at least 18.6 kb of DNA. The putative promoter region is rich in guanidine and cytosine residues and contains potential binding sites for the transcription factor Sp1 and the liver transcription factor, LF-B1. Blotting analysis revealed that the mutant alleles do not produce any detectable sterol 27-hydroxylase mRNA. No major gene rearrangements were found and single-strand conformational polymorphism followed by sequence analysis identified two underlying mutations: deletion of thymidine in exon 4 and a guanosine to adenosine substitution at the 3' splice acceptor site of intron 4 of the gene. The molecular characterization of CTX in Jews of Moroccan origin provides a definitive diagnosis of this treatable disease.
- Published
- 1993
- Full Text
- View/download PDF
40. Cerebrotendinous xanthomatosis: pathophysiological study on bone metabolism.
- Author
-
Federico A, Dotti MT, Loré F, and Nuti R
- Subjects
- Absorptiometry, Photon, Adult, Alkaline Phosphatase blood, Bone Density, Calcium blood, Chenodeoxycholic Acid metabolism, Female, Humans, Male, Phosphates blood, Vitamin D blood, Xanthomatosis metabolism, Bone and Bones metabolism, Osteoporosis metabolism, Xanthomatosis physiopathology
- Abstract
A condition of osteopenia in some cerebrotendinous xanthomatosis (CTX) patients led us to investigate bone metabolism in 8 patients belonging to 5 families. Serum calcium, phosphate and vitamin D metabolites were in the normal range; a reduction in total body density and impairment of intestinal radiocalcium absorption were found in the majority of our patients.
- Published
- 1993
- Full Text
- View/download PDF
41. Treatment of cerebrotendinous xanthomatosis with low-density lipoprotein (LDL)-apheresis.
- Author
-
Mimura Y, Kuriyama M, Tokimura Y, Fujiyama J, Osame M, Takesako K, and Tanaka N
- Subjects
- Achilles Tendon pathology, Achilles Tendon physiopathology, Adult, Brain Stem physiopathology, Chenodeoxycholic Acid therapeutic use, Cholestanol blood, Cholesterol blood, Combined Modality Therapy, Electroencephalography, Evoked Potentials, Auditory, Evoked Potentials, Somatosensory, Humans, Male, Middle Aged, Xanthomatosis blood, Xanthomatosis physiopathology, Blood Component Removal, Lipoproteins, LDL blood, Xanthomatosis therapy
- Abstract
We studied the effects of LDL-apheresis on the biochemical and clinical abnormalities of 5 patients with cerebrotendinous xanthomatosis (CTX). Levels of both cholestanol and cholesterol decreased to approximately 60% of those of pretreatment after one perfusion and gradually returned to their initial levels within 2 weeks. Improvement of clinical manifestations and regression of Achilles tendon xanthomas were detected after several perfusions, though dramatic changes could not be recognized. EEG abnormalities were improved immediately after LDL-apheresis in one patient. We conclude that LDL-apheresis may affect the serum cholestanol level and clinical manifestations in patients with CTX.
- Published
- 1993
- Full Text
- View/download PDF
42. Evoked potentials in cerebrotendinous xanthomatosis and effect induced by chenodeoxycholic acid.
- Author
-
Mondelli M, Rossi A, Scarpini C, Dotti MT, and Federico A
- Subjects
- Adult, Brain Diseases complications, Brain Diseases drug therapy, Chenodeoxycholic Acid therapeutic use, Evoked Potentials, Auditory, Brain Stem drug effects, Evoked Potentials, Somatosensory drug effects, Evoked Potentials, Visual drug effects, Female, Humans, Magnetics, Male, Motor Cortex drug effects, Motor Cortex physiopathology, Peripheral Nervous System Diseases complications, Peripheral Nervous System Diseases physiopathology, Xanthomatosis complications, Xanthomatosis drug therapy, Brain Diseases physiopathology, Chenodeoxycholic Acid pharmacology, Evoked Potentials drug effects, Xanthomatosis physiopathology
- Abstract
Evoked potentials are reported in 10 patients with cerebrotendinous xanthomatosis, eight of whom had peripheral neuropathy. Four subjects showed delayed N13 to N20 interpeak latencies for arm somatosensory evoked potentials, and five showed moderately prolonged I to III and I to V interpeak latencies of brain-stem auditory evoked potentials. Six of seven patients showed marked delay and desynchronization of visual evoked potentials. All five patients undergoing transcutaneous magnetic stimulation of the motor cortex presented greatly delayed central motor conduction time, especially of the lower limbs. After treatment with chenodiol (750 mg/d for at least 2 years), there was a significant improvement in nerve conduction velocities, N13 to N20 interpeak latencies, and visual evoked potential latencies. Brain-stem auditory evoked potentials remained unchanged.
- Published
- 1992
- Full Text
- View/download PDF
43. Electrophysiological studies in cerebrotendinous xanthomatosis.
- Author
-
Tokimura Y, Kuriyama M, Arimura K, Fujiyama J, and Osame M
- Subjects
- Adult, Brain Diseases, Metabolic diagnosis, Brain Stem physiopathology, Cholesterol blood, Electromyography, Evoked Potentials, Auditory, Brain Stem physiology, Evoked Potentials, Somatosensory physiology, Evoked Potentials, Visual physiology, Female, Humans, Male, Median Nerve physiopathology, Middle Aged, Neurons physiology, Reaction Time physiology, Tibial Nerve physiopathology, Brain Diseases, Metabolic genetics, Brain Diseases, Metabolic physiopathology, Cholestanol blood, Neurologic Examination, Synaptic Transmission physiology, Xanthomatosis genetics, Xanthomatosis physiopathology
- Abstract
Seven patients with cerebrotendinous xanthomatosis (CTX) were studied by electrophysiological techniques. The percentages of abnormalities detected in nerve conduction studies and electroencephalograms were 28.6% (two patients) and 100%, respectively. All patients showed prolonged central conduction times in short latency somatosensory evoked potentials (SSEPs) by tibial nerve stimulation but normal SSEPs by median nerve stimulation. Brain stem auditory evoked potentials and visual evoked potentials were abnormal in three (42.9%) and four patients (57.1%), respectively. These electrophysiological parameters were correlated with the ratio of serum cholestanol to cholesterol concentration. The results of SSEPs suggest that the polyneuropathy in CTX is caused by distal axonopathy affecting longer axons before shorter axons (central-peripheral distal axonopathy).
- Published
- 1992
- Full Text
- View/download PDF
44. The role of HDL in reverse cholesterol transport and its disturbances in Tangier disease and HDL deficiency with xanthomas.
- Author
-
Schmitz G, Brüning T, Williamson E, and Nowicka G
- Subjects
- Animals, Humans, Lipoproteins, HDL deficiency, Cholesterol metabolism, Lipoproteins, HDL physiology, Tangier Disease physiopathology, Xanthomatosis physiopathology
- Published
- 1990
- Full Text
- View/download PDF
45. Cerebrotendinous xanthomatosis: clinical, electrophysiological and nerve biopsy findings, and response to treatment with chenodeoxycholic acid.
- Author
-
Donaghy M, King RH, McKeran RO, Schwartz MS, and Thomas PK
- Subjects
- Adult, Biopsy, Brain Diseases drug therapy, Brain Diseases pathology, Electrophysiology, Humans, Male, Muscular Diseases drug therapy, Muscular Diseases pathology, Muscular Diseases physiopathology, Nerve Fibers, Myelinated pathology, Neural Conduction, Peripheral Nerves physiopathology, Xanthomatosis drug therapy, Xanthomatosis pathology, Brain Diseases physiopathology, Chenodeoxycholic Acid therapeutic use, Spinal Nerves pathology, Sural Nerve pathology, Tendons, Xanthomatosis physiopathology
- Abstract
A 30-year-old patient with cerebrotendinous xanthomatosis was studied over a 6-year period. The clinical manifestations were cataracts, intellectual deterioration, ataxia, palatal and pharyngeal myoclonus, corticospinal tract damage and an electrophysiologically demonstrated sensorimotor peripheral neuropathy. Peripheral motor and sensory nerve conduction velocity was slowed. Sural nerve biopsy revealed reduced densities of both myelinated and unmyelinated axons and teased fibres showed evidence of axonal regeneration and some remyelination. The loss of myelinated nerve fibres particularly affected those of larger diameter, thus contributing to the slowing of nerve conduction. Chenodeoxycholic acid treatment for two separate periods of 10 and 6 months each increased nerve conduction velocity. This electrophysiological improvement was not matched by detectable clinical neurological improvement.
- Published
- 1990
- Full Text
- View/download PDF
46. Raised intracranial pressure due to large intracranial xanthoma.
- Author
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Rees A, Lee G, Stocks J, Vella MA, Katz J, and Galton DJ
- Subjects
- Adult, Brain pathology, Brain Diseases complications, Brain Diseases pathology, Humans, Hypercholesterolemia complications, Male, Xanthomatosis complications, Xanthomatosis pathology, Brain Diseases physiopathology, Intracranial Pressure, Xanthomatosis physiopathology
- Published
- 1984
- Full Text
- View/download PDF
47. Central motor and sensory conduction in adrenoleukomyeloneuropathy, cerebrotendinous xanthomatosis, HTLV-1-associated myelopathy and tabes dorsalis.
- Author
-
Ugawa Y, Kohara N, Shimpo T, and Mannen T
- Subjects
- Adult, Afferent Pathways physiopathology, Aged, Brain physiopathology, Cerebellar Ataxia physiopathology, Female, Humans, Male, Middle Aged, Peripheral Nerves physiopathology, Pyramidal Tracts physiopathology, Spinal Cord physiopathology, Adrenoleukodystrophy physiopathology, Brain Diseases physiopathology, Diffuse Cerebral Sclerosis of Schilder physiopathology, Evoked Potentials, Somatosensory, HTLV-I Infections physiopathology, Motor Neurons physiology, Spinal Cord Diseases physiopathology, Synaptic Transmission, Tabes Dorsalis physiopathology, Xanthomatosis physiopathology
- Abstract
Central motor and sensory conduction was studied by percutaneous electrical stimulation of brain and spinal cord and by somatosensory evoked potential techniques respectively, in patients with adrenoleukomyeloneuropathy, cerebrotendinous xanthomatosis, human T-cell lymphotropic virus-1-associated myelopathy and tabes dorsalis. The results were all consistent with clinical and neuropathological findings in these disorders. Conductions in the corticospinal tract and posterior column could be evaluated separately with these two techniques. Percutaneous electrical stimulation technique would be useful for investigating conduction in the corticospinal tract in patients with spinal cord disorders.
- Published
- 1988
- Full Text
- View/download PDF
48. Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid.
- Author
-
Berginer VM, Salen G, and Shefer S
- Subjects
- Adolescent, Adult, Bile Acids and Salts metabolism, Brain diagnostic imaging, Brain Diseases, Metabolic diagnostic imaging, Brain Diseases, Metabolic physiopathology, Cholestanols blood, Cholesterol blood, Electroencephalography, Female, Humans, Lipid Metabolism, Inborn Errors diagnostic imaging, Lipid Metabolism, Inborn Errors physiopathology, Male, Middle Aged, Tendons, Tomography, X-Ray Computed, Ursodeoxycholic Acid therapeutic use, Xanthomatosis diagnostic imaging, Xanthomatosis physiopathology, Brain Diseases, Metabolic drug therapy, Chenodeoxycholic Acid therapeutic use, Lipid Metabolism, Inborn Errors drug therapy, Xanthomatosis drug therapy
- Abstract
We studied the effect of chenodeoxycholic acid in 17 patients with cerebrotendinous xanthomatosis. Before treatment, all subjects were symptomatic, with Achilles tendon xanthomas (in 15 of 17), cataracts (in 12 of 17), dementia (in 13 of 17), pyramidal-tract signs (in all 17), cerebellar dysfunction (in 13 of 17), mild peripheral neuropathy (in 7 of 17), electroencephalographic abnormalities (in 10 of 13), and abnormal cerebral computerized axial tomographic scans (in 10 of 12). After at least one year of chenodeoxycholic acid treatment (750 mg per day), dementia cleared in 10 subjects, and pyramidal and cerebellar signs disappeared in 5 and improved in another 8. Peripheral neuropathy was no longer detected in six. The electroencephalogram became normal in five and showed fewer abnormalities in another three subjects. Cerebral computerized axial tomographic scans improved in seven patients; the changes included the disappearance of a cerebellar xanthoma in one case. Concomitantly, mean plasma cholestanol levels declined threefold, and abnormal bile acid synthesis was suppressed. We conclude that long-term therapy with chenodeoxycholic acid may correct the biochemical abnormalities and arrest and possibly reverse the progression of cerebrotendinous xanthomatosis.
- Published
- 1984
- Full Text
- View/download PDF
49. Colonic xanthomatosis. Relationship to disordered motility and review of the literature.
- Author
-
Scheiman J, Elta G, Colturi T, and Nostrant T
- Subjects
- Adult, Female, Humans, Colonic Diseases physiopathology, Gastrointestinal Motility, Xanthomatosis physiopathology
- Abstract
We report two additional cases of colonic xanthomatosis associated with persistent rectal symptoms. Disordered colonic motility in the areas of lipid infiltration was documented in one patient. We conclude these lesions may have a pathophysiologic role in the alteration of intestinal motility which appears to be the cause of our patients' symptoms.
- Published
- 1988
- Full Text
- View/download PDF
50. Reticuloendothelial system response to hyperlipidemia in rhesus and cynomolgus monkeys.
- Author
-
Davis HR, Vesselinovitch D, and Wissler RW
- Subjects
- Animals, Cholesterol blood, Lipids analysis, Liver analysis, Liver pathology, Macaca fascicularis, Macaca mulatta, Male, Species Specificity, Spleen pathology, Triglycerides blood, Xanthomatosis pathology, Xanthomatosis physiopathology, Hyperlipidemias physiopathology, Macrophages physiology, Mononuclear Phagocyte System physiopathology
- Abstract
A detailed study of the effect of various periods of hyperlipidemia on the reticuloendothelial system (RES) lipid accumulation in rhesus and cynomolgus monkeys was conducted. The cynomolgus serum cholesterol and triglyceride levels were on the average more elevated than the rhesus levels throughout a 12-month period when both species were fed a diet containing 12.5% coconut oil, 12.5% butter fat, and 2% cholesterol. After cynomolgus monkeys were fed this diet, their reticuloendothelial system became more lipid laden than that of the rhesus monkeys, in both the liver and the spleen. This was also true for the circulating monocytes. Furthermore, the parenchymal cells of the cynomolgus livers also become more fat filled, and chemical analyses demonstrated more cholesterol (total, free, and esterified) and triglycerides in the liver and the spleen. Xanthomata development in the cynomolgus, although similar in type and distribution, was more extensive than that in the rhesus monkey after similar periods of experimental diet feeding. Therefore, the RES of two species of macaque monkeys are affected differently when challenged with the same high fat, high cholesterol diet, with the cynomolgus RES being much more involved with lipid and cholesterol storage than the rhesus RES.
- Published
- 1984
- Full Text
- View/download PDF
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