6,143 results match your criteria Xanthomas


Factors Associated with Carotid Atherosclerosis and Achilles Tendon Thickness in Japanese Patients with Familial Hypercholesterolemia: A Subanalysis of the Familial Hypercholesterolemia Expert Forum (FAME) Study.

J Atheroscler Thromb 2021 Jun 10. Epub 2021 Jun 10.

Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine.

Aims: Familial hypercholesterolemia (FH) is characterized by high low-density lipoprotein (LDL) cholesterol levels, xanthomas including Achilles tendon thickening, and premature coronary artery disease (CAD). Carotid intima-media thickness (IMT) is a well-established surrogate marker for CAD in FH and Achilles tendon thickening is a specific physical finding in patients with FH. The objective of the present study was to identify factors associated with carotid IMT and Achilles tendon thickness in FH heterozygotes on lipid-lowering therapy. Read More

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Achilles Tendon Xanthoma and Cholestanol Revealing Cerebrotendinous Xanthomatosis: A New Case Report.

Case Rep Rheumatol 2021 20;2021:6656584. Epub 2021 May 20.

Rheumatology Department, Military Hospital Mohammed V, Mohammed V University, Rabat, Morocco.

Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid storage disease rarely reported in Africa. Therefore, we report a Moroccan first case report of CTX. A 20-year-old woman was presented in our department for bilateral swelling of the posterior aspect of ankles and the anterior aspect knees with gait disturbances evolving since the age of 7. Read More

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Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases.

J Neurol Neurosurg Psychiatry 2021 Jun 8. Epub 2021 Jun 8.

Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA

Background: We used a multimodal approach including detailed phenotyping, whole exome sequencing (WES) and candidate gene filters to diagnose rare neurological diseases in individuals referred by tertiary neurology centres.

Methods: WES was performed on 66 individuals with neurogenetic diseases using candidate gene filters and stringent algorithms for assessing sequence variants. Pathogenic or likely pathogenic missense variants were interpreted using in silico prediction tools, family segregation analysis, previous publications of disease association and relevant biological assays. Read More

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Extensive soft tissue xanthomatosis masquerading as tophaceous gout in a normolipidemic man.

Rheumatology (Oxford) 2021 Jun 7. Epub 2021 Jun 7.

Department of Internal Medicine, Northwestern Medicine, Chicago, IL, US.

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The Prevalence of Heterozygous Familial Hypercholesterolemia in Selected Regions of the Russian Federation: The FH-ESSE-RF Study.

J Pers Med 2021 May 24;11(6). Epub 2021 May 24.

National Medical Research Center for Cardiology, 3-ya Cherepkovskaya Street, 15A, 121552 Moscow, Russia.

Heterozygous familial hypercholesterolemia (HeFH) is one of the most common genetic conditions but remains substantially underdiagnosed. The aim of our study was to investigate the prevalence of HeFH in the population of 11 different regions of Russia. Individuals were selected from the Epidemiology of Cardiovascular Risk Factors and Diseases in Regions of the Russian Federation Study. Read More

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NGS-Based Diagnosis of Treatable Neurogenetic Disorders in Adults: Opportunities and Challenges.

Genes (Basel) 2021 May 6;12(5). Epub 2021 May 6.

Division of Genetic Medicine, Lausanne University Hospital (CHUV), 1011 Lausanne, Switzerland.

The identification of neurological disorders by next-generation sequencing (NGS)-based gene panels has helped clinicians understand the underlying physiopathology, resulting in personalized treatment for some rare diseases. While the phenotype of distinct neurogenetic disorders is generally well-known in childhood, in adulthood, the phenotype can be unspecific and make the standard diagnostic approach more complex. Here we present three unrelated adults with various neurological manifestations who were successfully diagnosed using NGS, allowing for the initiation of potentially life-changing treatments. Read More

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Late-Onset Leukodystrophy Mimicking Hereditary Spastic Paraplegia without Diffuse Leukodystrophy on Neuroimaging.

Neuropsychiatr Dis Treat 2021 12;17:1451-1458. Epub 2021 May 12.

Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology, Qilu Hospital, Shandong University, Jinan, People's Republic of China.

Purpose: Leukodystrophies are frequently regarded as childhood disorders, but they can occur at any age, and the clinical and imaging patterns of the adult-onset form are usually different from the better-known childhood variants. Several reports have shown that various late-onset leukodystrophies, such as X-linked adrenoleukodystrophy and Krabbe disease, may present as spastic paraplegia with the absence of the characteristic white matter lesions on neuroimaging; this can be easily misdiagnosed as hereditary spastic paraplegia. The objective of this study was to investigate the frequency of late-onset leukodystrophies in patients with spastic paraplegia. Read More

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Multifocal Xanthoma of Bone.

J Am Acad Orthop Surg Glob Res Rev 2021 May 19;5(5):e20.00261-4. Epub 2021 May 19.

From the Department of Orthopedic Surgery Rehabilitation (Dr. Schryver, Mr. McCandless, Dr. Barr) and the Department of Pathology (Dr. Al Hmada), University of Mississippi Medical Center, Jackson, MS.

We report a case of a 40-year-old woman with hyperlipidemia and associated multifocal xanthoma of bone requiring prophylactic fixation of her bilateral femurs. Although xanthomas of bone are themselves a benign process, their presence may indicate that the patient has poorly controlled lipids and is at an increased risk of cardiovascular disease. Lytic lesions may require prophylactic fixation to prevent pathologic fracture. Read More

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Persistent hypercholesterolemia in child with homozygous autosomal recessive hypercholesterolemia: A decade of lipid management.

J Clin Lipidol 2021 Apr 29. Epub 2021 Apr 29.

Clinical Research Unit, Khoo Teck Puat Hospital, Singapore 768828; Diabetes Centre, Admiralty Medical Centre, Singapore, Singapore 730676; Department of Medicine, Division of Endocrinology. Khoo Teck Puat Hospital, Singapore 768828. Electronic address:

Autosomal recessive hypercholesterolemia (ARH) is a rare form of genetic hypercholesterolemia caused by mutations in low density lipoprotein receptor adaptor protein 1 (LDLRAP1). The proband first presented with linear eruptive xanthomas over her ankles, knees and elbows, with low density lipoprotein cholesterol (LDL-C) of 16.0 mmol/L (618. Read More

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Current Diagnosis and Management of Primary Chylomicronemia.

J Atheroscler Thromb 2021 May 13. Epub 2021 May 13.

Department of Molecular Pathogenesis, National Cerebral and Cardiovascular Center Research Institute.

Primary chylomicronemia (PCM) is a rare and intractable disease characterized by marked accumulation of chylomicrons in plasma. The levels of plasma triglycerides (TGs) typically range from 1,000 - 15,000 mg/dL or higher.PCM is caused by defects in the lipoprotein lipase (LPL) pathway due to genetic mutations, autoantibodies, or unidentified causes. Read More

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Effectiveness and Safety of Lipid-Lowering Drug Treatments in Japanese Patients with Familial Hypercholesterolemia: Familial Hypercholesterolemia Expert Forum (FAME) Study.

J Atheroscler Thromb 2021 May 13. Epub 2021 May 13.

Diabetes and Lifestyle-related Disease Center, Fukujuji Hospital, Japan Anti-Tuberculosis Association (JATA).

Aims: Familial hypercholesterolemia (FH) is a genetic disorder characterized by high serum levels of low-density lipoprotein (LDL)-cholesterol (LDL-C), tendon and skin xanthomas, and premature coronary artery disease (CAD). In Japan, detailed information on the current status of drug therapies for patients with FH has not been reported so far, and their efficacy and safety have not been clarified. After the introduction of ezetimibe, which can further reduce serum LDL-C levels on top of statins, the changes of management for FH patients with these drugs are of particular interest. Read More

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Familial variability of cerebrotendinous xanthomatosis lacking typical biochemical findings.

JIMD Rep 2021 May 8;59(1):3-9. Epub 2021 Jan 8.

Department of Clinical Genomics and Neurology Mayo Clinic Scottsdale Arizona USA.

Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder of bile acid synthesis caused by pathogenic variants in the gene encoding the mitochondrial enzyme sterol 27-hydroxylase. Patients with CTX can present with a wide range of symptoms, but most often have evidence of tendon xanthomas along with possible cataracts, atherosclerosis, or neurological dysfunction. Regardless of clinical phenotype, CTX patients typically exhibit levels of cholestanol and bile acid precursors in the circulation that are many fold increased over normal control concentrations. Read More

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Abdominal Pain as the Manifestation of Chylomicronemia Syndrome During Pregnancy: A Challenging Diagnosis.

Cureus 2021 Apr 6;13(4):e14317. Epub 2021 Apr 6.

Internal Medicine: Critical Care, Hospital De Cascais, Cascais, PRT.

Hypertriglyceridemia is a frequent cause of acute pancreatitis. Levels higher than 1000 mg/dL are often associated with a genetic predisposition that can be aggravated by other factors such as pregnancy and poorly controlled diabetes. The authors report a 19-year-old primigravida that presented with abdominal pain, emesis and a pruritic rash, along with severely increased plasma triglyceride levels. Read More

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Cerebrotendinous Xanthomatosis: Molecular Pathogenesis, Clinical Spectrum, Diagnosis, and Disease-Modifying Treatments.

J Atheroscler Thromb 2021 May 8. Epub 2021 May 8.

Department of Molecular Pathogenesis, National Cerebral and Cardiovascular Center Research Institute.

Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid storage disorder caused by mutations in the CYP27A1 gene, which encodes the mitochondrial enzyme sterol 27-hydroxylase. Decreased sterol 27-hydroxylase activity results in impaired bile acid synthesis, leading to reduced production of bile acids, especially chenodeoxycholic acid (CDCA), as well as elevated serum cholestanol and urine bile alcohols. The accumulation of cholestanol and cholesterol mainly in the brain, lenses, and tendons results in the characteristic clinical manifestations of CTX. Read More

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Adipophilin expression in skin lesions with clear cell histology.

J Clin Pathol 2021 May 5. Epub 2021 May 5.

Dermatology, The First Affiliated Hospital of Chongqing Medical University, Chongqing, China

Aims: Clear cells formed due to depositions of glycogen or lipids in the cytoplasm commonly occur in various tissues. Adipophilin (ADP), a lipid regulatory protein, is closely related to lipid droplets. This study aims to examine adipophilin expression in clear cells of various skin lesions. Read More

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Teaching NeuroImages: Symmetric Deep Cerebellar White Matter T2 and SWI Hypointense Lesions in a Case of Cerebrotendinous Xanthomatosis.

Neurology 2021 May 4. Epub 2021 May 4.

Yue Zhang, Huashan Hospital, Fudan University, Department of Neurology, Shanghai, China; Yimin Sun, Huashan Hospital, Fudan University, Department of Neurology, Shanghai, China; Haiqing Li, Huashan Hospital, Fudan University, Department of Radiology, Shanghai, China;

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Diagnosis and Management of Sitosterolemia 2021.

J Atheroscler Thromb 2021 Apr 28. Epub 2021 Apr 28.

Department of Molecular Pathogenesis, National Cerebral and Cardiovascular Center Research Institute.

Sitosterolemia is an inherited metabolic disorder characterized by increased levels of plant sterols, such as sitosterol. This disease is caused by loss-of-function genetic mutations in ATP-binding cassette (ABC) subfamily G member 5 or member 8 (ABCG5 or ABCG8, respectively), both of which play important roles in selective excretion of plant sterols from the liver and intestine, leading to failure to prevent absorption of food plant sterols. This disorder has been considered to be extremely rare. Read More

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Metabolic profiling in serum, cerebrospinal fluid, and brain of patients with cerebrotendinous xanthomatosis.

J Lipid Res 2021 Apr 20;62:100078. Epub 2021 Apr 20.

German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany; Department of Neurology and Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany. Electronic address:

Cerebrotendinous xanthomatosis (CTX) is caused by autosomal recessive loss-of-function mutations in CYP27A1, a gene encoding cytochrome p450 oxidase essential for bile acid synthesis, resulting in altered bile acid and lipid metabolism. Here, we aimed to identify metabolic aberrations that drive ongoing neurodegeneration in some patients with CTX despite chenodeoxycholic acid (CDCA) supplementation, the standard treatment in CTX. Using chromatographic separation techniques coupled to mass spectrometry, we analyzed 26 sterol metabolites in serum and cerebrospinal fluid (CSF) of patients with CTX and in one CTX brain. Read More

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Cerebrotendinous xanthomatosis revisited.

Pract Neurol 2021 Jun 14;21(3):243-245. Epub 2021 Apr 14.

Department of Radiology, Orthopedic Research Center, Faculty of Medicine, Mazandaran University of Medical Sciences, Sari, Iran.

Cerebrotendinous xanthomatosis is a rare autosomal recessive lipid storage syndrome defined clinically by the triad of progressive neurodegeneration, juvenile cataracts and tendon xanthomas in adults. It is treatable, and a prompt diagnosis can improve outcomes. We describe a patient with this condition who presented with progressive ataxia. Read More

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Cerebrotendinous xanthomatosis without neurological involvement.

J Intern Med 2021 Apr 8. Epub 2021 Apr 8.

Department of Neurology, Canisius Wilhelmina Hospital, Nijmegen, The Netherlands.

Background: Cerebrotendinous xanthomatosis (CTX) is an autosomal recessively inherited inborn error of metabolism. Neurological symptoms are considered to be a clinical hallmark of untreated adult patients. We describe a 'milder CTX phenotype', without neurological involvement. Read More

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Eruptive Xanthoma With Dermal Mucin Deposition.

Am J Dermatopathol 2021 Mar 30. Epub 2021 Mar 30.

Department of Dermatology, Ajou University School of Medicine, Suwon, Korea.

Abstract: Xanthomas present clinically as eruptive, tuberoeruptive, tuberous, tendinous, or planar forms. Among these, eruptive xanthoma (EX) is characterized by sudden development of multiple, red-to-yellow papules, each less than 5 mm in diameter, on the extensor surface of the extremities and the buttock area. EX is often associated with severe hypertriglyceridemia, underlying diabetes, obesity, or excessive alcohol intake. Read More

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Cutaneous Manifestations in Homozygous Familial Hypercholesterolemia.

Am J Med Sci 2021 05 2;361(5):e49-e50. Epub 2020 Nov 2.

Pandit BD Sharma University of Health Sciences, Rohtak, Haryana, India.

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High Glucose Causes Distinct Expression Patterns of Primary Human Skin Cells by RNA Sequencing.

Front Endocrinol (Lausanne) 2021 8;12:603645. Epub 2021 Mar 8.

Department of Vascular Surgery, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

Diabetes-related skin problems represent the most common long-term complications in diabetes mellitus patients. These complications, which include diabetic dermopathy, diabetic blisters, necrobiosis lipoidica diabeticorum, and eruptive xanthomatosis, may dramatically impair patients' quality of life and cause long-lasting disability. However, the cellular and molecular mechanisms linking diabetes-related hyperglycemia and skin complications are still incompletely understood. Read More

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Expanding the clinical spectrum of cerebrotendinous xanthomatosis: Implications for newborn screening, follow-up and treatment.

Authors:
C E M Hollak

J Intern Med 2021 Mar 24. Epub 2021 Mar 24.

From the, Department of Internal Medicine / Endocrinology and Metabolism, Academic Medical Center, Amsterdam, the Netherlands.

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Case Report: Management of a Patient With Chylomicronemia Syndrome During Pregnancy With Medical Nutrition Therapy.

Front Nutr 2021 5;8:602938. Epub 2021 Mar 5.

Obesity Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Hypertriglyceridemia (HTG) during pregnancy may be accompanied by acute pancreatitis, hyperviscosity syndrome, and preeclampsia. HTG during pregnancy should be managed by a multidisciplinary team; however, no clinical guidelines exist for severe gestational HTG. We herein present a case of a 36-year-old in the first pregnancy (G1P0Ab0), with a history of severe HTG-induced necrotizing pancreatitis 9 years earlier. Read More

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Deep mining of oxysterols and cholestenoic acids in human plasma and cerebrospinal fluid: Quantification using isotope dilution mass spectrometry.

Anal Chim Acta 2021 Apr 4;1154:338259. Epub 2021 Feb 4.

Swansea University Medical School, ILS1 Building, Singleton Park, Swansea, SA2 8PP, Wales, UK.

Both plasma and cerebrospinal fluid (CSF) are rich in cholesterol and its metabolites. Here we describe in detail a methodology for the identification and quantification of multiple sterols including oxysterols and sterol-acids found in these fluids. The method is translatable to any laboratory with access to liquid chromatography - tandem mass spectrometry. Read More

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Patients with cerebrotendinous xanthomatosis diagnosed with diverse multisystem involvement.

Metab Brain Dis 2021 Mar 11. Epub 2021 Mar 11.

Department of Pediatrics, Division of Pediatric Metabolism and Nutrition, Dokuz Eylul University Faculty of Medicine, Izmir, Turkey.

Cerebrotendinous xanthomatosis (CTX) is a lipid storage disease caused by deficiency of sterol 27-hydroxylase enzyme encoded by CYP27A1 gene. This multicenter, cross-sectional descriptive study aimed to document clinical characteristics of CTX patients of different ages, clinical presentations of early-diagnosed patients, and responses to short-term chenodeoxycholic acid (CDCA) treatment. Seven of 11 CTX patients were diagnosed in childhood. Read More

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Clinical Note: Bipolar disorder in Cerebrotendinous Xanthomatosis: a case report.

Actas Esp Psiquiatr 2021 Mar 1;49(2):85-86. Epub 2021 Mar 1.

Department of Psychiatry, Hospital Universitario Fundación Jiménez Díaz, Madrid, Spain. Department of Psychiatry, Universidad Autónoma, Madrid, Spain. Department of Psychiatry, Hospital Universitario Rey Juan Carlos, Móstoles, Spain. Department of Psychiatry, Hospital General de Villalba, Madrid, Spain. Department of Psychiatry, Hospital Universitario Infanta Elena, Valdemoro, Spain. Insituto de Investigación Sanitaria Fundación Jiménez Díaz, Madrid, Spain. CIBERSAM (Centro de Investigación en Salud Mental), Carlos III Institute of Health, Madrid, Spain. 9 Universidad Católica del Maule, Talca, Chile.

Cerebrotendinous X anthomatosis (CTX) is a rare autosomal recessive disorder presenting with possible psychiatric manifestations that, once established, are difficult to control. We present the case of a 29-year-old woman diagnosed with CTX who developed bipolar disorder. Owing to difficulties in pharmacological management, the patient underwent electroconvulsive therapy (ECT), which lead to a favorable outcome. Read More

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Spinal cerebrotendinous xanthomatosis: A case report and literature review.

Mol Genet Metab Rep 2021 Mar 3;26:100719. Epub 2021 Feb 3.

Division of Genetic Medicine, Lausanne University Hospital, Lausanne, Switzerland.

Background: Classic cerebrotendinous xanthomatosis (CTX; OMIM #213700) manifests with chronic diarrhea, juvenile cataracts, tendon xanthomas and neurological symptoms. It is due to biallelic inactivation of wich leads to cholestanol accumulation in the central nervous system, eyes and tendons. Less commonly, the disease can present in young adults as spastic paraparesis in the absence of xanthomas. Read More

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