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    PCSK 9 gain-of-function mutations (R496W and D374Y) and clinical cardiovascular characteristics in a cohort of Turkish patients with familial hypercholesterolemia.
    Anatol J Cardiol 2017 Aug 2. Epub 2017 Aug 2.
    Department of Cardiology, Faculty of Medicine, Ege University; İzmir-Turkey.
    Objective: The molecular basis of the mutations in the PCSK9 gene that produces familial hypercholesterolemia (FH) in the Turkish population is unknown. This study was conducted to determine the presence of four different PCSK9 gain-of-function (GOF) mutations (F216L, R496W, S127R, and D374Y) in a group of patients with FH.

    Methods: A total of 80 consecutive patients with FH (mean age: 56±11 years; mean maximum LDL cholesterol: 251±76 mg/dL) were included in the study. Read More

    Carotid intima media thickness in a girl with sitosterolemia carrying a homozygous mutation in the ABCG5 gene.
    J Pediatr Endocrinol Metab 2017 Aug 3. Epub 2017 Aug 3.
    .
    Background: Sitosterolemia is a rare lipid metabolism disorder that involves storage of plant sterols. This disease is associated with atherosclerosis, but detailed vascular endothelial assessment is difficult.

    Case Presentation: We report a 5-year-old girl with sitosterolemia who presented with xanthomas at 23 months of age. Read More

    Mutations in the ABCG8 gene are associated with sitosterolaemia in the homozygous form and xanthelasmas in the heterozygous form.
    Eur J Dermatol 2017 Jul 25. Epub 2017 Jul 25.
    Department of Dermatology, American University of Beirut, Beirut, Lebanon, Department of Biochemistry and Molecular Genetics, American University of Beirut, Beirut, Lebanon, Department of Dermatology, Columbia University, New York, New York, USA.
    Sitosterol is the most abundant plant sterol found in our diet. Sitosterolemia (OMIM 210250), also known as phytosterolaemia, is a rare autosomal recessive disease caused by the inability to efficiently excrete plant sterol, and is characterized by cutaneous xanthomas and accelerated atherosclerosis. Sitosterolaemia is caused by homozygous or compound heterozygous mutations in either ABCG5 or ABCG8 (both on chromosome 2p21), which encode the sterol efflux transporter ABCG5 (sterolin-1) and ABCG8 (sterolin-2), respectively. Read More

    Two novel variants of the ABCG5 gene cause xanthelasmas and macrothrombocytopenia: a brief review of hematologic abnormalities of sitosterolemia.
    J Thromb Haemost 2017 Jul 11. Epub 2017 Jul 11.
    Department of Hematology, Hospital Universitario de Salamanca-IBSAL-USAL, Salamanca, Spain.
    Essentials Diagnosis of sitosterolemia, a rare recessive or syndromic disorder, is usually delayed. Peripheral blood smear is extremely useful for establishing the suspicion of sitosterolemia. High-throughput sequencing technology enables the molecular diagnosis of inherited thrombocytopenias. Read More

    Evaluation of clinical and laboratory parameters used in the identification of index cases for genetic screening of familial hypercholesterolemia in Brazil.
    Atherosclerosis 2017 Aug 22;263:257-262. Epub 2017 Jun 22.
    Laboratory of Genetics and Molecular Cardiology, Heart Institute (InCor), University of São Paulo Medical School Hospital, São Paulo, Brazil.
    Background And Aims: There is controversy on the accuracy of different diagnostic criteria for familial hypercholesterolemia (FH). The aim of this study is to assess the performance of different clinical criteria used to identify individuals for FH genetic cascade screening in Brazil.

    Methods: All index cases (IC) registered in the Hipercol Brasil program between 2011 and 2016 were analyzed. Read More

    Two Cases of Rectal Xanthoma Presenting as Yellowish to Whitish Lesions during Colonoscopy.
    Case Rep Gastrointest Med 2017 1;2017:5975107. Epub 2017 Jun 1.
    Department of Gastroenterology and Hepatology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama 700-8558, Japan.
    Two cases of rectal xanthomas are described. One case is that of a 56-year-old Japanese man in whom multiple yellowish spots measuring approximately 3 to 5 mm were observed in the rectum during colonoscopy. The other case is that of a 78-year-old Japanese man in whom colonoscopy showed a whitish plaque of 4 mm in diameter in the rectum. Read More

    Achilles Tendon Ultrasonography for Diagnosis of Familial Hypercholesterolemia Among Japanese Subjects.
    Circ J 2017 Jun 23. Epub 2017 Jun 23.
    Department of Molecular Innovation in Lipidology, National Cerebral and Cardiovascular Center Research Institute.
    Background: Difficulty in detecting and measuring Achilles tendon (AT) xanthomas may be responsible for underdiagnosis of familial hypercholesterolemia (FH). We aimed to determine a cutoff value for AT thickness (AT-T) using ultrasonography to diagnose FH, and to investigate the relationship between AT-T and atherosclerosis.Methods and Results:Ultrasonographic AT-T and carotid intima-media thickness (IMT) were evaluated in 130 genetically diagnosed FH patients and 155 non-FH patients. Read More

    Effect of intensive LDL cholesterol lowering with PCSK9 monoclonal antibodies on tendon xanthoma regression in familial hypercholesterolemia.
    Atherosclerosis 2017 Aug 8;263:92-96. Epub 2017 Jun 8.
    Unidad Clínica y de Investigación en Lípidos y Arteriosclerosis, Hospital Universitario Miguel Servet, Instituto de Investigación Sanitaria Aragón (IIS Aragón), Universidad de Zaragoza, CIBERCV, Zaragoza, Spain. Electronic address:
    Background And Aims: The effect of LDLc lowering with PCSK9 antibodies on tendon xanthomas (TX) is unknown.

    Methods: TX was measured in 24 heterozygous familial hypercholesterolemia (HeFH) cases and in 24 HeFH controls with or without PCSK9 inhibitors for at least one year.

    Results: Exposure to PCSK9 inhibitors in cases was 2. Read More

    Clinical and molecular genetic features of cerebrotendinous xanthomatosis patients in Chinese families.
    Metab Brain Dis 2017 Jun 17. Epub 2017 Jun 17.
    Department of Neurology & National Clinical Research Center for Aging and Medicine, Huashan Hospital, Fudan University, 12 Wulumuqi Zhong Road, Shanghai, 200040, China.
    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. Read More

    Clinical report: A patient with a late diagnosis of cerebrotendinous xanthomatosis and a response to treatment.
    Am J Med Genet A 2017 Aug 7;173(8):2275-2279. Epub 2017 Jun 7.
    Department of Pediatrics,, Division of Genetics, University of California, San Francisco, California.
    Cerebrotendinous xanthomatosis (CTX) is a rare, autosomal recessive, inborn error of bile acid metabolism characterized by diarrhea in infancy, juvenile cataracts in childhood, tendon xanthomas developing in the second to third decades of life, and progressive neurologic dysfunction in adulthood. The condition is caused by mutations in the CYP27A1 gene that result in decreased production of chenodeoxycholic acid (CDCA) and elevated levels of cholestanol and bile alcohols. We present a 36-year-old male of Han ethnicity who developed xanthomas of his Achilles tendons and suffered neurocognitive declines and gait deterioration in his second decade. Read More

    [Familial hypercholesterolemia: A largely underestimated cardiovascular risk].
    Ann Cardiol Angeiol (Paris) 2017 May 30. Epub 2017 May 30.
    Hôpital européen Georges-Pompidou, 20, rue Leblanc, 75015 Paris, France. Electronic address:
    Background: Familial hypercholesterolemia is a monogenic autosomal dominant dyslipidemia characterized by a permanent and isolated increase of cholesterol carried by low-density lipoproteins. The prevalence of its heterozygous form is estimated between 1/500 and 1/250, and in the absence of specific treatment, this form is responsible for an increase by a factor of 13 of the risk of premature coronary artery disease compared to patients non-affected by the disease.

    Objectives: To perform an inventory of the knowledge of heterozygous familial hypercholesterolemia in France for physicians involved in the management of the disease. Read More

    Cerebellar Disease Mimicking Cerebrotendinous Xanthomatosis: Langerhans Cell Histiocytosis.
    Pediatr Neurol 2017 Aug 18;73:98-100. Epub 2017 Apr 18.
    Department of Neurology, Canisius Wilhelmina Hospital, Nijmegen, The Netherlands.
    Background: This report highlights the differential diagnosis of predominant cerebellar white matter abnormalities with dentate nuclei involvement.

    Patient Description: We describe two individuals with Langerhans cell histiocytosis in whom the diagnosis of cerebrotendinous xanthomatosis was initially considered. The clinical picture consisted of a progressive cerebellar syndrome with typical magnetic resonance imaging abnormalities. Read More

    Xanthoma Disseminatum in a Young Patient with Diabetes Insipidus.
    Pediatr Dermatol 2017 May;34(3):e144-e145
    Department of Dermatology, Jinling Hospital, Medical School of Nanjing University, Nanjing, China.
    Xanthoma disseminatum (XD) is a nonfamilial type of normolipidemic mucocutaneous xanthomatosis that belongs to the group of non-Langerhans cell histiocytoses. More than 100 cases of XD have been reported. In this study we report a case of XD in a 4-year-old boy with diabetes insipidus (DI). Read More

    Timely diagnosis of sitosterolemia by next generation sequencing in two children with severe hypercholesterolemia.
    Atherosclerosis 2017 Jul 4;262:71-77. Epub 2017 May 4.
    Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy. Electronic address:
    Background And Aims: Severe hypercholesterolemia associated or not with xanthomas in a child may suggest the diagnosis of homozygous autosomal dominant hypercholesterolemia (ADH), autosomal recessive hypercholesterolemia (ARH) or sitosterolemia, depending on the transmission of hypercholesterolemia in the patient's family. Sitosterolemia is a recessive disorder characterized by high plasma levels of cholesterol and plant sterols due to mutations in the ABCG5 or the ABCG8 gene, leading to a loss of function of the ATP-binding cassette (ABC) heterodimer transporter G5-G8.

    Methods: We aimed to perform the molecular characterization of two children with severe primary hypercholesterolemia. Read More

    [Severe hypertriglyceridemia : Diagnostics and new treatment principles].
    Internist (Berl) 2017 Aug;58(8):866-876
    Charité, Universitätsklinik Berlin, Augustenburger Platz 1, 13353, Berlin, Deutschland.
    Severe hypertriglyceridemia is defined at a plasma triglyceride (TG) concentration of >885 mg/dl and may result - in particular when clinical symptoms appear before the age of 40 - from "large variant" mutations in genes which influence the function of the lipoprotein lipase (LPL). For diagnosis, secondary factors have to be excluded and treated before further genetic tests are considered. Typical symptoms in almost all patients are recurrent, sometimes severe abdominal pain attacks, which can result in acute pancreatitis, the most important, sometimes life-threatening complication. Read More

    Sonographic Findings of Polyneuropathy Associated With Cerebrotendinous Xanthomatosis: A Case Report.
    Ann Rehabil Med 2017 Apr 27;41(2):313-317. Epub 2017 Apr 27.
    Department of Rehabilitation Medicine, College of Medicine, The Catholic University of Korea, Seoul, Korea.
    Cerebrotendinous xanthomatosis is a rare autosomal recessive disease that involves multiple organs, including the peripheral nervous system. The present study is the first to report the ultrasonographic findings of peripheral nerves in a patient with cerebrotendinous xanthomatosis. The patient presented with bilateral Achilles tendon enlargement and foot hypesthesia. Read More

    Achilles tendon xanthomas are associated with the presence and burden of subclinical coronary atherosclerosis in heterozygous familial hypercholesterolemia: A pilot study.
    Atherosclerosis 2017 Aug 30;263:393-397. Epub 2017 Apr 30.
    Lipid Clinic Heart Institute (InCor), University of Sao Paulo Medical School Hospital, Sao Paulo, SP, Brazil; Preventive Medicine Center and Cardiology Program, Hospital Israelita Albert Einstein, Sao Paulo, Brazil. Electronic address:
    Background And Aims: Achilles tendon xanthomas (ATX) are a sign of long-term exposure to high blood cholesterol in familial hypercholesterolemia (FH) patients, which have been associated with cardiovascular disease. We evaluated the ATX association with the presence and extent of subclinical coronary atherosclerosis in heterozygous FH patients.

    Methods: 102 FH patients diagnosed by US-MEDPED criteria (67% with genetically proven FH), with median LDL-C 279 mg/dL (interquartile range: 240; 313), asymptomatic for cardiovascular disease, underwent computed tomography angiography and coronary artery calcium (CAC) quantification. Read More

    Influence of low-level laser on pain and inflammation in type 2 diabetes mellitus with diabetic dermopathy - A case report.
    J Cosmet Laser Ther 2017 May 11:1-4. Epub 2017 May 11.
    a Kasturba Medical College (KMC), Manipal University , Manipal , India.
    Numerous skin lesions have been commonly observed in individuals with diabetes mellitus. The common skin manifestations of diabetes mellitus are erythrasma, xanthomatosis, xanthelasma, phycomycetes and cutaneous infections like furuncolosis, candidiasis, carbuncle, dermatophytosis, etc. Diabetic dermopathy is the most common skin lesion found in patients with diabetes. Read More

    Management of cholestatic pruritus in children with Alagille syndrome: Case report and literature review.
    Arch Pediatr 2016 Dec 27;23(12):1247-1250. Epub 2016 Oct 27.
    Pediatric department, Hedi Chaker Hospital, El ain street km 0,5, 3029 Sfax, Tunisia.
    Alagille syndrome causes intractable pruritus and disfiguring xanthomas because of retained bile acids and cholesterol. Drug therapy in addition to surgical intervention may be effective in many patients in reducing serum bile acids, cholesterol levels, pruritus, and skin xanthomas. In this report, we describe a child with Alagille syndrome who presented with severe pruritus and xanthomas as a consequence of severe hypercholesterolemia and discuss the treatment modalities. Read More

    Nodular Esophageal Xanthoma: A Case Report and Review of the Literature.
    Case Rep Gastrointest Med 2017 10;2017:1503967. Epub 2017 Apr 10.
    Department of Gastroenterology, Our Lady of Lourdes Hospital, Willingboro, NJ, USA.
    Xanthomas are localized nonneoplastic lesions within tissues that may manifest as papules, plaques, or nodules. These lesions can be found anywhere along the gastrointestinal tract, commonly in the stomach and colon, and rarely in the small intestine and esophagus. Esophagogastroduodenoscopy (EGD) with biopsy is the gold standard tool for diagnosis. Read More

    A Case Report of Xanthogranulomatous Cystitis.
    Urol Case Rep 2017 Jul 26;13:72-73. Epub 2017 Apr 26.
    Department of Urology, Southern Medical University, Guangzhou, Guangdong, China.
    Xanthogranulomatous cystitis (XC) is a chronic granulomatous inflammation with rare incidence. Herein, we report a 62-year-old female whose cystoscopic biopsy showed chronic inflammation accompanied with acute episode of inflammation. According to CT scan, pathology of the lesion could not rule out bladder carcinoma. Read More

    Lipoprotein-X in cholestatic patients causes xanthomas and promotes foam cell formation in human macrophages.
    J Clin Lipidol 2017 Jan - Feb;11(1):110-118. Epub 2016 Nov 5.
    Department of Clinical Laboratory Medicine, Juntendo University Graduate School of Medicine, Tokyo, Japan. Electronic address:
    Background: Lipoprotein-X (Lp-X) is an abnormal phospholipid-rich lipoprotein found in patients with cholestatic liver disease. Some patients exhibit skin xanthomas and severe hyperlipidemia.

    Objective: We investigated whether Lp-X induces foam cell formation in human-derived macrophages. Read More

    Common genetic etiology between "multiple sclerosis-like" single-gene disorders and familial multiple sclerosis.
    Hum Genet 2017 Jun 23;136(6):705-714. Epub 2017 Mar 23.
    Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
    Several single-gene disorders with clinical and radiological characteristics similar to those observed in multiple sclerosis (MS) patients have been described. To evaluate whether this phenotypic overlap can be ascribed to a common genetic etiology, 28 genes known to present pathogenic mutations for 24 of these disorders were sequenced in 270 MS patients. All identified variants were genotyped in 2131 MS cases and 830 healthy controls, and those exclusively observed in patients were assessed for segregation within families. Read More

    The spectrum of magnetic resonance findings in cerebrotendinous xanthomatosis: redefinition and evidence of new markers of disease progression.
    J Neurol 2017 May 21;264(5):862-874. Epub 2017 Mar 21.
    Unit of Diagnostic and Therapeutic Neuroradiology, Azienda Ospedaliera Siena, Siena, Italy.
    Cerebrotendinous xanthomatosis (CTX) is a metabolic disease characterized by systemic signs and neurological impairment, which can be prevented if chenodeoxycholic acid (CDCA) treatment is started early. Despite brain MRI represents an essential diagnostic tool, the spectrum of findings is worth to be reappraised, and follow-up data are needed. We performed clinical evaluation and brain MRI in 38 CTX patients. Read More

    A newborn screening method for cerebrotendinous xanthomatosis using bile alcohol glucuronides and metabolite ratios.
    J Lipid Res 2017 May 17;58(5):1002-1007. Epub 2017 Mar 17.
    Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, Rotterdam, The Netherlands.
    Cerebrotendinous xanthomatosis (CTX) is a treatable neurodegenerative metabolic disorder of bile acid synthesis in which symptoms can be prevented if treatment with chenodeoxycholic acid supplementation is initiated early in life, making CTX an excellent candidate for newborn screening. We developed a new dried blood spot (DBS) screening assay for this disorder on the basis of different ratios between the accumulating cholestanetetrol glucuronide (tetrol) and specific bile acids/bile acid intermediates, without the need for derivatization. A quarter-inch DBS punch was extracted with methanol, internal standards were added, and after concentration the extract was injected into the tandem mass spectrometer using a 2 min flow injection analysis for which specific transitions were measured for cholestanetetrol glucuronide, taurochenodeoxycholic acid (t-CDCA), and taurotrihydroxycholestanoic acid (t-THCA). Read More

    Bilateral Achilles Tendon Xanthomas in a Patient with Cerebrotendinous XanthomatosisA Case Report.
    J Am Podiatr Med Assoc 2017 Jan;107(1):85-89
    Cerebrotendinous xanthomatosis is a rare, autosomal recessive, lipid storage disease with accumulation of cholestanol in most tissues, particularly in the Achilles tendons. We described a 23-year-old female patient who had progressive painfull swelling of both Achilles tendons due to cerebrotendinous xanthomatosis. We performed surgery on both-side Achilles tendon tumors. Read More

    [Clinical features of «metabolism» diseases of the skin in patients with chronic diffuse liver diseases].
    Ter Arkh 2017;89(1):49-52
    Novosibirsk State Medical University, Ministry of Health of Russia, Novosibirsk, Russia.
    Aim: To determine the clinical features of skin diseases developing in the presence of metabolic disturbances in patients with chronic diffuse liver diseases.

    Subjects And Methods: A total of 368 patients with different clinical forms of hepatopathy were comprehensively examined.

    Results: 817 cases of seborrhea, skin itch, xerodermia, xanthomatosis, and dyschromia were detected in 318 (86. Read More

    Review of xanthomatous lesions of the sella.
    Brain Pathol 2017 May;27(3):377-395
    Department of Neurosurgery, University of Colorado Anschutz Medical Campus, Aurora, CO.
    Xanthomatous lesions of the sellar region have traditionally been divided into two separate categories, xanthomatous hypophysitis (XH) and xanthogranuloma (XG) of the sellar region. The seminal article on XH, a condition typified by foamy histiocytes and lymphoplasmacytic infiltrates in the pituitary gland/sellar region, but usually little or no hemosiderin pigment, detailed three patients. However, most reports since that time have been single cases, making understanding of the entity difficult. Read More

    A novel frameshift mutation in the sterol 27-hydroxylase gene in an Egyptian family with cerebrotendinous xanthomatosis without cataract.
    Metab Brain Dis 2017 Apr 22;32(2):311-315. Epub 2017 Feb 22.
    Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Tahrir street, Dokki, Giza, Cairo, 12311, Egypt.
    Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disorder caused by deficiency of the mitochondrial cytochrome P450 sterol 27-hydroxylase enzyme encoded by CYP27A1 gene. CTX is characterized by tendon xanthomas, juvenile cataracts and multiple progressive neurological symptoms. Here we report on the clinical and molecular findings of a 35-years old Egyptian patient with CTX without cataract. Read More

    Analysis of mutations causing familial hypercholesterolaemia in black South African patients of different ancestr.
    S Afr Med J 2017 Jan 30;107(2):145-148. Epub 2017 Jan 30.
    Centre for Cardiovascular Genetics, British Heart Foundation Laboratories, Institute of Cardiovascular Sciences, University College London, UK.
    Background: Familial hypercholesterolaemia (FH) is usually caused by mutations in three genes (LDLR, APOB and PCSK9).

    Objective: To identify the spectrum of FH-causing mutations in black South African (SA) patients.

    Methods: DNA samples of 16 unrelated South African FH patients with elevated low-density lipoprotein cholesterol levels, tendon xanthomas and corneal arcus (3 clinically homozygous FH and 13 heterozygous FH) of ethnic African origin were screened for mutations in the LDLR (coding region, promoter and intron/exon boundaries), APOB (part of exon 26) and PCSK9 genes (exon 7), using high-resolution melting. Read More

    Case 239: Cerebrotendinous Xanthomatosis.
    Radiology 2017 Mar;282(3):916-921
    From the Department of Radiology, Leicester Royal Infirmary, Infirmary Square, Leicester LE1 5WW, England.
    History A 63-year-old man with learning difficulties presented to the Accident and Emergency Department with right ankle pain after an inversion injury and underwent plain radiography. The patient had developed normally until his teenage years, at which point he experienced cognitive regression. He experienced swallowing difficulties, tinnitus, and fecal incontinence, and he had undergone cataract surgery at the age of 20 years. Read More

    Long-term treatment with evolocumab added to conventional drug therapy, with or without apheresis, in patients with homozygous familial hypercholesterolaemia: an interim subset analysis of the open-label TAUSSIG study.
    Lancet Diabetes Endocrinol 2017 Apr 16;5(4):280-290. Epub 2017 Feb 16.
    Metabolic and Atherosclerosis Research Center, Cincinnati, OH, USA. Electronic address:
    Background: Homozygous familial hypercholesterolaemia is a genetic disorder characterised by substantially raised LDL cholesterol, reduced LDL receptor function, xanthomas, and cardiovascular disease before age 20 years. Conventional therapy is with statins, ezetimibe, and apheresis. We aimed to assess the long-term safety and efficacy of the proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitor evolocumab in a subset of patients with homozygous familial hypercholesterolaemia enrolled in an open-label, non-randomised phase 3 trial. Read More

    A case of sitosterolemia due to compound heterozygous mutations in ABCG5: clinical features and treatment outcomes obtained with colestimide and ezetimibe.
    Clin Pediatr Endocrinol 2017 Jan 31;26(1):17-23. Epub 2017 Jan 31.
    Department of Pediatrics, Kawasaki Medical School, Okayama, Japan.
    Sitosterolemia is a rare, autosomal recessively inherited disorder of lipid metabolism caused by mutations in the "ATP-binding cassette, subfamily G" member 5 and 8 proteins (encoded by the ABCG5 and ABCG8 genes, respectively), which play critical roles in the intestinal and biliary excretion of plant sterols. We report the clinical features and treatment outcomes of an 18-month-old Japanese girl with sitosterolemia, who presented with multiple linear and intertriginous xanthomas around the joint areas. Serum lipid analyses revealed elevated levels of total cholesterol (T-Chol: 866 mg/dL), low density lipoprotein-cholesterol (LDL-C: 679 mg/dL), and plant sterols (sitosterol: 24. Read More

    Cytochrome P450 27A1 Deficiency and Regional Differences in Brain Sterol Metabolism Cause Preferential Cholestanol Accumulation in the Cerebellum.
    J Biol Chem 2017 Mar 11;292(12):4913-4924. Epub 2017 Feb 11.
    From the Departments of Ophthalmology and Visual Sciences and
    Cytochrome P450 27A1 (CYP27A1 or sterol 27-hydroxylase) is a ubiquitous, multifunctional enzyme catalyzing regio- and stereospecific hydroxylation of different sterols. In humans, complete CYP27A1 deficiency leads to cerebrotendinous xanthomatosis or nodule formation in tendons and brain (preferentially in the cerebellum) rich in cholesterol and cholestanol, the 5α-saturated analog of cholesterol. In Cyp27a1(-/-) mice, xanthomas are not formed, despite a significant cholestanol increase in the brain and cerebellum. Read More

    Left Main coronary angioplasty of a 9-year-old child with bioresorbable vascular scaffold [corrected].
    Catheter Cardiovasc Interv 2017 04 10;89(5):867-871. Epub 2017 Feb 10.
    Cardiac Cath Lab, Fortis Hospitals, Mumbai, 400078, India.
    Familial hypercholesterolemia is an autosomal dominant disorder due to mutations in the low-density lipoprotein receptor gene, characterized by skin and tendon xanthomas, xanthelasmas, and increased risk of premature coronary artery disease. Here, we report a case of 9-year-old girl who presented with angina and dyspnoea on exertion with xanthomas and an elevated serum cholesterol and triglyceride. She had severe stenosis of the left main coronary artery (LMCA) requiring angioplasty and placement of Bioresorbable vascular scaffold (BVS). Read More

    Half a Century Tales of Familial Hypercholesterolemia (FH) in Japan.
    J Atheroscler Thromb 2017 Mar 8;24(3):189-207. Epub 2017 Feb 8.
    Division of Clinical Lipidology, Department of Cardiology, Kanazawa University.
    Familial hypercholesterolemia (FH) is a disease characterized by a triad: elevated low-density lipoprotein (LDL) cholesterol, tendon xanthomas, and premature coronary heart disease. Thus, it can be considered as a model disease for hypercholesterolemia and atherosclerotic cardiovascular disease (ASCVD). For the diagnosis of hetero-FH, the detection of Achilles tendon xanthomas by palpation or on X-ray is an indispensable diagnostic skill in clinical lipidology. Read More

    The role of dentate nuclei in human oculomotor control: insights from cerebrotendinous xanthomatosis.
    J Physiol 2017 Jun 14;595(11):3607-3620. Epub 2017 Mar 14.
    Eye tracking and Visual Application Lab (EVA Lab) - Neurology and Neurometabolic Unit, Department of Medical and Surgical Sciences and Neurosciences, University of Siena, Italy.
    Key Points: A cerebellar dentate nuclei (DN) contribution to volitional oculomotor control has recently been hypothesized but not fully understood. Cerebrotendinous xanthomatosis (CTX) is a rare neurometabolic disease typically characterized by DN damage. In this study, we compared the ocular movement characteristics of two sets of CTX patients, with and without brain MRI evidence of DN involvement, with a set of healthy subjects. Read More

    [Hyperlipoproteinemia and dyslipidemia as rare diseases. Diagnostics and treatment].
    Vnitr Lek Fall 2016;62(11):887-894
    Hyperlipoproteinemia (HLP) and dyslipidemia (DLP) are of course mainly perceived as diseases of common incidence and are typically seen as the greatest risk factors (RF) in the context of the pandemic of cardiovascular diseases. This is certainly true and HLP or DLP overall affect tens of percents of adults. However we cannot overlook the fact that disorders (mostly congenital) of lipid metabolism exist which, though not formally defined as such, amply satisfy the conditions for classification as rare diseases. Read More

    Xanthomatous Hypophysitis Is Associated with Ruptured Rathke's Cleft Cyst.
    Endocr Pathol 2017 Mar;28(1):83-90
    Department of Pathology, University Health Network, 200 Elizabeth Street, 11th floor, Toronto, ON, M5G 2C4, Canada.
    Xanthomatous hypophysitis is a rare inflammatory disease of the pituitary gland that can mimic a neoplastic lesion clinically and radiologically. Its pathogenesis remains largely unknown, although recent evidence suggests that pituitary inflammation may occur as a secondary reaction to mucous content released from a ruptured cyst. In a series of 1221 pituitary specimens, we identified seven cases of xanthomatous hypophysitis. Read More

    Multiple large xanthomas: A case report.
    Oncol Lett 2016 Dec 18;12(6):4327-4332. Epub 2016 Oct 18.
    Department of Orthopedics, The Second Clinical Medical College, Wenzhou Medical University, Wenzhou, Zhejiang 325000, P.R. China.
    A 23-year-old male patient presented with multiple large masses in his elbows, buttocks, knees, Achilles tendons, feet, shoulders and hands. The large masses in the elbows and buttocks measured ~6×5×5 cm and ~7×5×4 cm, respectively. The patient presented with an elevated level of low-density lipoprotein cholesterol, and had been previously diagnosed with homozygous familial hypercholesterolemia (FH) and multiple xanthomas. Read More

    Familial dysbetalipoproteinemia: an underdiagnosed lipid disorder.
    Curr Opin Endocrinol Diabetes Obes 2017 Apr;24(2):133-139
    aVascular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands bDivision of Chemical Pathology, University of Cape Town Health Science Faculty and National Health Laboratory Service, Cape Town, South Africa.
    Purpose Of Review: To review pathophysiological, epidemiological and clinical aspects of familial dysbetalipoproteinemia; a model disease for remnant metabolism and remnant-associated cardiovascular risk.

    Recent Findings: Familial dysbetalipoproteinemia is characterized by remnant accumulation caused by impaired remnant clearance, and premature cardiovascular disease. Most familial dysbetalipoproteinemia patients are homozygous for apolipoprotein ε2, which is associated with decreased binding of apolipoprotein E to the LDL receptor. Read More

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