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    3382 results match your criteria Osler-Weber-Rendu Syndrome

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    Cerebral abscess associated with odontogenic bacteremias, hypoxemia, and iron loading in immunocompetent patients with right-to-left shunting through pulmonary arteriovenous malformations.
    Clin Infect Dis 2017 Apr 19. Epub 2017 Apr 19.
    NHLI Cardiovascular Sciences and.
    Background: Cerebral abscess is a recognised complication of pulmonary arteriovenous malformations (PAVMs) that allow systemic venous blood to bypass the pulmonary capillary bed through anatomic right-to-left shunts. Broader implications and mechanisms remain poorly explored.

    Methods: Between June 2005 and December 2016, at a single institution, 445 consecutive adult patients with CT-scan confirmed PAVMs (including 403 (90. Read More

    A Comprehensive Approach to Hepatic Vascular Disease.
    Radiographics 2017 Apr 21:160161. Epub 2017 Apr 21.
    From the Department of Diagnostic Radiology, University of Texas MD Anderson Cancer Center, 1400 Pressler St, Houston, TX 77030 (K.M.E., S.J.); Department of Radiology and Imaging Sciences, University of Utah, Salt Lake City, Utah (A.M.S.); Department of Diagnostic and Interventional Imaging, McGovern Medical School at the University of Texas Health Science Center at Houston, Houston, Tex (S.M.R.); Department of Diagnostic Radiology, University of Miami Health System, Miami, Fla (B.L.M., R.P.C., V.J.C.); and Department of Diagnostic Radiology, Mayo Clinic, Scottsdale, Ariz (C.O.M.).
    The liver has a complex vascular supply, which involves the inflow of oxygenated blood through the hepatic artery (systemic circulation) and deoxygenated blood through the portal vein (portal circulation), as well as the outflow of deoxygenated blood through the hepatic veins to the inferior vena cava. A spectrum of vascular variants can involve the liver. Some of these variants may result in areas of enhancement that can mimic more serious pathologic conditions. Read More

    Liver transplantation for hereditary hemorrhagic telangiectasia: a systematic review.
    HPB (Oxford) 2017 Apr 17. Epub 2017 Apr 17.
    Hepato-Pancreato-Biliary Surgery and Liver Transplantation, Pôle des Pathologies Digestives, Hépatiques et de la Transplantation, Hôpital de Hautepierre-Hôpitaux Universitaires de Strasbourg, 67000 Strasbourg, France.
    Aim: To evaluate the indications, timing and results of liver transplantation in patients affected by hereditary hemorrhagic telangiectasia (HHT), by undertaking a systematic review of the current literature.

    Methods: Electronic bibliographical databases were searched on MEDLINE and Pubmed according to the PRISMA criteria. A total of 58 articles were initially found, 11 have been excluded because of single center series later included in the European Liver transplant Registry (ELTR), already reported in this study. Read More

    Effect of pulmonary arteriovenous malformations on the mechanical properties of the lungs.
    BMC Pulm Med 2017 Apr 19;17(1):64. Epub 2017 Apr 19.
    Consultation Pluridisciplinaire Maladie de Rendu Osler, Université de Versailles SQY, APHP, Hôpital Ambroise Paré, Boulogne-Billancourt, France.
    Background: Pulmonary arteriovenous malformations (PAVMs) are present in approximately 15-50% individuals with hereditary hemorrhagic telangiectasia (HHT). They may be isolated but more often are multiple. The goal of this study was to evaluate the influence of PAVMs on lung mechanical properties. Read More

    Thalidomide for Epistaxis in Patients with Hereditary Hemorrhagic Telangiectasia: A Preliminary Study.
    Otolaryngol Head Neck Surg 2017 Apr 1:194599817700573. Epub 2017 Apr 1.
    1 Department of Otolaryngology, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Otolaryngology Institute of Shanghai Jiao Tong University, Shanghai, China.
    To evaluate the effectiveness of thalidomide for epistaxis in hereditary hemorrhagic telangiectasia (HHT), 7 HHT patients with recurrent epistaxis were treated with thalidomide at an initial dose of 50 mg/d, gradually increasing to 100 mg/d if needed. The Epistaxis Severity Score (ESS) was used to evaluate the treatment effects. Patients reported that epistaxis improved 1 to 3 weeks after starting thalidomide. Read More

    Screening children for pulmonary arteriovenous malformations: Evaluation of 18 years of experience.
    Pediatr Pulmonol 2017 Apr 13. Epub 2017 Apr 13.
    Department of Pulmonology, St Antonius Hospital, Nieuwegein, The Netherlands.
    Background: Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant disease with multi-systemic vascular dysplasia. Early diagnosis through screening is important to prevent serious complications. How best to screen children of affected parents for pulmonary arteriovenous malformations (PAVMs) is often subject to debate. Read More

    A Case Report of Hereditary Hemorrhagic Telangiectasia Diagnosed in a Podiatric Medical Patient.
    J Am Podiatr Med Assoc 2017 Mar;107(2):155-157
    Hereditary hemorrhagic telangiectasia (HHT), which is also known as Osler-Weber-Rendu syndrome, is a group of related disorders characterized by the development of arteriovenous malformations. These malformations occur in almost all organs but predominantly in the skin, intestines, liver, lungs, and brain. This is a case report of a patient with cutaneous manifestations of HHT in the lower extremities as diagnosed by his podiatric physician. Read More

    [Hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations in children].
    Rev Med Liege 2016 Dec;71(12):537-540
    Chef de Département de Pédiatrie, CHC Clinique de l'Espérance, 4420 Montegnée, Belgique.
    Hereditary hemorrhagic telangiectasia is a constitutional vascular dysplasia characterized by chronic epistaxis, mucocutaneous and visceral telangiectasias and arteriovenous malformations. Apart from family screenings, the disease is rarely diagnosed during the pediatric age given the late advent of typical clinical symptoms. Nevertheless, arteriovenous malformations are sometimes already present at a young age with significant morbidity risk. Read More

    Bone Morphogenetic Proteins in Vascular Homeostasis and Disease.
    Cold Spring Harb Perspect Biol 2017 Mar 27. Epub 2017 Mar 27.
    Institut National de la Santé et de la Recherche Mécale (INSERM), U1036, 38000 Grenoble, France.
    It is well established that control of vascular morphogenesis and homeostasis is regulated by vascular endothelial growth factor (VEGF), fibroblast growth factor (FGF), Delta-like 4 (Dll4), angiopoietin, and ephrin signaling. It has become clear that signaling by bone morphogenetic proteins (BMPs), which have a long history of studies in bone and early heart development, are also essential for regulating vascular function. Indeed, mutations that cause deregulated BMP signaling are linked to two human vascular diseases, hereditary hemorrhagic telangiectasia and pulmonary arterial hypertension. Read More

    TGF-β Signaling in Control of Cardiovascular Function.
    Cold Spring Harb Perspect Biol 2017 Mar 27. Epub 2017 Mar 27.
    Department of Molecular Cell Biology and Cancer Genomics Centre Netherlands, Leiden University Medical Center, 2300 RC Leiden, The Netherlands.
    Genetic studies in animals and humans indicate that gene mutations that functionally perturb transforming growth factor β (TGF-β) signaling are linked to specific hereditary vascular syndromes, including Osler-Rendu-Weber disease or hereditary hemorrhagic telangiectasia and Marfan syndrome. Disturbed TGF-β signaling can also cause nonhereditary disorders like atherosclerosis and cardiac fibrosis. Accordingly, cell culture studies using endothelial cells or smooth muscle cells (SMCs), cultured alone or together in two- or three-dimensional cell culture assays, on plastic or embedded in matrix, have shown that TGF-β has a pivotal effect on endothelial and SMC proliferation, differentiation, migration, tube formation, and sprouting. Read More

    7-day weighed food diaries suggest patients with hereditary hemorrhagic telangiectasia may spontaneously modify their diet to avoid nosebleed precipitants.
    Orphanet J Rare Dis 2017 Mar 28;12(1):60. Epub 2017 Mar 28.
    National Heart and Lung Institute Cardiovascular Sciences, Imperial College London, London, UK.
    Hereditary hemorrhagic telangiectasia (HHT) poses substantial burdens due to nosebleeds and iron deficiency resulting from recurrent hemorrhagic iron losses. Recent studies by our group found surprising links between HHT nosebleeds and certain food groups. In this letter, we report 7-day weighed food diary assessments of an unselected group of 25 UK patients with HHT whose nosebleeds ranged from mild to severe (median epistaxis severity score 4. Read More

    Selective effects of oral anti-angiogenic tyrosine kinase inhibitors on an animal model of hereditary hemorrhagic telangiectasia.
    J Thromb Haemost 2017 Mar 24. Epub 2017 Mar 24.
    Department of Physiology and Functional genomics, College of Medicine, University of Florida, Gainesville, Florida, 32610, USA.
    Background: Epistaxis and gastrointestinal (GI) tract hemorrhages are common symptoms of aged hereditary hemorrhagic telangiectasia (HHT) patients that result in anemia. Clinical as well as animal studies have suggested that vascular endothelial growth factor (VEGF) neutralizing antibodies lessen hemorrhage associated with adult onset arteriovenous malformations (AVMs).

    Objectives: The goal of this study is to evaluate potential therapeutic effects of oral delivery of four anti-angiogenic tyrosine-kinase inhibitors (TKIs) in the development of adult onset AVMs in a murine model of HHT. Read More

    Depression and post-traumatic stress disorder in individuals with hereditary hemorrhagic telangiectasia: A cross-sectional survey.
    Thromb Res 2017 Mar 9;153:14-18. Epub 2017 Mar 9.
    Department of Cellular and Molecular Medicine, Cleveland Clinic, United States; Hematologic Oncology and Blood Disorders, Taussig Cancer Center, Cleveland Clinic, Cleveland, OH, United States. Electronic address:
    Introduction: Hereditary hemorrhagic telangiectasia (HHT) is characterized by frequent severe bleeding, particularly epistaxis, and life-threatening complications including stroke, brain abscess and heart failure. The psychological impact of HHT is not known. We conducted this cross sectional study to determine the prevalence of depression and post-traumatic stress disorder (PTSD) related to HHT. Read More

    Hereditary Hemorrhagic Telangiectasia Management.
    Radiol Technol 2017 Jan;88(3):277-294
    Hereditary hemorrhagic telangiectasia (HHT) is an inherited disorder that can lead to frequent and severe sequelae. Although the condition has no cure, many of its physical symptoms can be managed to improve the quality of life and lower the risk of life-threatening complications. This article discusses HHT presentation, genetic screening, diagnosis, and management. Read More

    Mutual interaction between endothelial cells and mural cells enhances BMP9 signaling in endothelial cells.
    Biol Open 2017 Mar 15;6(3):370-380. Epub 2017 Mar 15.
    Pain and Neuroscience Laboratories, R&D Division, Daiichi Sankyo Co., Ltd., Tokyo 140-8710, Japan
    Hereditary hemorrhagic telangiectasia is characterized by the formation of abnormal vascular networks and caused by the mutation of genes involved in BMP9 signaling. It is also known that the interaction between endothelial cells (ECs) and mural cells (MCs) is critical to maintain vessel integrity. However, it has not yet fully been uncovered whether the EC-MC interaction affects BMP9 signaling or not. Read More

    Epistaxis grading in Osler's disease: comparison of comprehensive scores with detailed bleeding diaries.
    Int Forum Allergy Rhinol 2017 Mar 2;7(3):293-299. Epub 2016 Nov 2.
    Department of Otorhinolaryngology, Medical University of Vienna, Vienna, Austria.
    Background: Use of reliable grading scores to measure epistaxis severity in hereditary hemorrhagic telangiectasia (HHT) is essential in clinical routine and for scientific purposes. For practical reasons, visual analog scale (VAS) scoring and the Epistaxis Severity Score (ESS) are widely used. VAS scores are purely subjective, and a potential shortcoming of the ESS is that it is based on self-reported anamnestic bleeding data. Read More

    Hereditary hemorrhagic telangiectasia patient presenting with brain abscess due to silent pulmonary arteriovenous malformation.
    Pan Afr Med J 2016 11;25:145. Epub 2016 Nov 11.
    Department of Neurosurgery, University of Athens Medical School, "Evangelismos" General Hospital, Athens, Greece.
    Hereditary hemorrhagic telangiectasia is a rare autosomal dominant inherited disease that is usually complicated by visceral vascular malformations. Patients harboring such malformations are at increased risk of brain abscess formation, which despite advances in diagnostic and surgical methods remains a life threatening medical emergency with high mortality and morbidity rates. In the present report we describe a case of cerebral abscess due to silent pulmonary arteriovenous malformation (AVM) in a young patient previously undiagnosed for hereditary hemorrhagic telangiectasia syndrome (HHT). Read More

    Case 7-2017. A 73-Year-Old Man with Confusion and Recurrent Epistaxis.
    N Engl J Med 2017 03;376(10):972-980
    From the Department of Internal Medicine, Yale School of Medicine, New Haven, CT (R.L.F.); and the Departments of Medicine (J.L.G.), Radiology (S.M.), Pediatrics (A.E.L.), and Pathology (J.R.S.), Massachusetts General Hospital, and the Departments of Medicine (J.L.G.), Radiology (S.M.), Pediatrics (A.E.L.), and Pathology (J.R.S.), Harvard Medical School - both in Boston.

    Hemoglobin Is a Vital Determinant of Arterial Oxygen Content in Hypoxemic Patients with Pulmonary Arteriovenous Malformations.
    Ann Am Thorac Soc 2017 Mar 7. Epub 2017 Mar 7.
    Imperial College, National Heart and Lung Institute , BHF Cardiovascular Medicine Unit , Hammersmith Hospital , London, United Kingdom of Great Britain and Northern Ireland , W12 0NN ;
    Rationale: Arterial partial pressure of oxygen (PaO2), and oxygen saturation (SaO2) are commonly measured in respiratory practice, but arterial oxygen content (CaO2) refers to the volume of oxygen delivered to the tissues per unit blood volume. CaO2 is calculated from SaO2 and the hemoglobin concentration in blood, recognizing that each gram of hemoglobin can transport approximately 1.34mls of oxygen when fully saturated. Read More

    Mutation affecting the proximal promoter of Endoglin as the origin of hereditary hemorrhagic telangiectasia type 1.
    BMC Med Genet 2017 Feb 23;18(1):20. Epub 2017 Feb 23.
    Centro de Investigaciones Biológicas, Consejo Superior de Investigaciones Científicas (CSIC), and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Ramiro de Maeztu 9, Madrid, 28040, Spain.
    Background: Hereditary hemorrhagic telangiectasia (HHT) is a vascular multi-organ system disorder. Its diagnostic criteria include epistaxis, telangiectases in mucocutaneous sites, arteriovenous malformations (AVMs), and familial inheritance. HHT is transmitted as an autosomal dominant condition, caused in 85% of cases by mutations in either Endoglin (ENG) or Activin receptor-like kinase (ACVRL1/ACVRL1/ALK1) genes. Read More

    Oral mucosal changes induced by anticancer targeted therapies and immune checkpoint inhibitors.
    Support Care Cancer 2017 May 22;25(5):1713-1739. Epub 2017 Feb 22.
    Oral Medicine Department, Institut Claudius Regaud, Institut Universitaire du cancer Toulouse-Oncopole, 1 avenue Irène Joliot-Curie, 31059, Toulouse Cedex, France.
    Development of biological targeted therapies and immune checkpoint inhibitors has redefined the treatment for many cancers; however, the increasing use of new protocols has led to physicians observing a new spectrum of toxicities. To date, oral adverse events induced by these new anticancer therapies have been mainly reported using nonspecific terminology ("stomatitis," "mucosal inflammation," "mucositis") and remain poorly characterized, with the exception of mammalian target of rapamycin (mTOR) inhibitor-associated stomatitis. Oral toxicities of targeted therapies often display very characteristic features which clearly differ from classic oral injuries observed with cytotoxic chemotherapy and/or radiotherapy. Read More

    Nasal septal perforation secondary to systemic bevacizumab.
    Am J Otolaryngol 2017 Jan 19. Epub 2017 Jan 19.
    Department of Otolaryngology - Head and Neck Surgery, University of California Davis, Sacramento, CA 95817, USA.
    Importance: A case of nasal septal perforation secondary to systemic bevacizumab therapy for ovarian cancer is reported. Bevacizumab is a vascular endothelial growth factor A (VEGF-A) inhibitor that is becoming more widely utilized in the oncologic community. There is only one prior report of septal perforation secondary to bevacizumab in the Otolaryngology specific literature. Read More

    Conditional knockout of activin like kinase-1 (ALK-1) leads to heart failure without maladaptive remodeling.
    Heart Vessels 2017 Feb 17. Epub 2017 Feb 17.
    Molecular Cardiology Research Institute and Division of Cardiology, Department of Medicine, Tufts Medical Center, 800 Washington Street, Boston, MA, 02111, USA.
    Activin like kinase-1 (AlK-1) mediates signaling via the transforming growth factor beta (TGFβ) family of ligands. AlK-1 activity promotes endothelial proliferation and migration. Reduced AlK-1 activity is associated with arteriovenous malformations. Read More

    High-Output Heart Failure Contributing to Recurrent Epistaxis Kiesselbach Area Syndrome in a Patient With Hereditary Hemorrhagic Telangiectasia.
    J Investig Med High Impact Case Rep 2017 Jan-Mar;5(1):2324709617692833. Epub 2017 Feb 1.
    East Tennessee State University, Johnson City, TN, USA.
    Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a rare genetic blood disorder that leads to abnormal bleeding due to absent capillaries and multiple abnormal blood vessels known as arteriovenous malformations. A feature of HHT is high-output heart failure due to multiple arteriovenous malformations. High-output heart failure can lead to recurrent epistaxis Kiesselbach area syndrome (REKAS), further exacerbating heart failure through increased blood loss and resultant anemia. Read More

    Macro- and microcirculation patterns of intrahepatic blood flow changes in patients with hereditary hemorrhagic telangiectasia.
    World J Gastroenterol 2017 Jan;23(3):486-495
    Roland C Schelker, Christina Hart, Wolfgang Herr, Department of Internal Medicine III, Hematology and Oncology, University Hospital of Regensburg, 93051 Regensburg, Germany.
    Aim: To evaluated vascular dynamic processes in the liver of hereditary hemorrhagic telangiectasia (HHT) patients by ultrasound (US) considering quantitative analytic methods.

    Methods: The imaging features on US and contrast-enhanced ultrasound (CEUS) in 18 patients diagnosed with HHT were retrospectively analyzed. Regarding CEUS, real-time contrast harmonic imaging and sulfur hexafluoride-filled microbubbles were used. Read More

    A Survey of Pulmonary Arteriovenous Malformation Screening, Management, and Follow-Up in Hereditary Hemorrhagic Telangiectasia Centers of Excellence.
    Cardiovasc Intervent Radiol 2017 Feb 10. Epub 2017 Feb 10.
    Division of Interventional Radiology, Department of Radiology, Perelman School of Medicine, Hospital of the University of Pennsylvania, 1 Silverstein, 3400 Spruce Street, Philadelphia, PA, 19104, USA.
    Purpose: To determine current practice regarding screening, management, and follow-up of pulmonary arteriovenous malformations (PAVMs), particularly those with feeding arteries <3 mm in diameter, in those patients with hereditary hemorrhagic telangiectasia (HHT) at HHT Centers of Excellence.

    Materials And Methods: A 32-question survey focusing on PAVM screening, management, and follow-up was sent to 147 participants at HHT Centers worldwide.

    Results: Thirty-three responses were received (22%); 60% from interventional radiologists and 20% from pulmonologists; 67% from the USA, 21% European, and 6% Asian. Read More

    Cervical spine arteriovenous fistula associated with hereditary haemorrhagic telangiectasia.
    BMJ Case Rep 2017 Feb 7;2017. Epub 2017 Feb 7.
    Department of Neurology, St Vincent's University Hospital, Dublin, Ireland.
    Reported is a case of a man aged 55 years who presented with progressive spastic paraparesis. Examination demonstrated multiple cutaneous telangiectases. Subsequent development of upper limb weakness, acute urinary retention and eventual respiratory compromise resulted in the requirement for intensive care unit admission and mechanical ventilation. Read More

    Non-invasive CT screening for pulmonary arteriovenous malformations in children with confirmed hereditary hemorrhagic telangiectasia: Results from two pediatric centers.
    Pediatr Pulmonol 2017 May 6;52(5):642-649. Epub 2017 Feb 6.
    Service de Pédiatrie, Centre Hospitalier Intercommunal de Créteil, Créteil 94000, France.
    Background: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant genetic disorder that is caused by mutations in mainly two genes, that is ENG, encoding endoglin (HHT1), or ACVRL1, encoding activin receptor-like kinase 1 (ALK-1/HHT2). HHT is characterized by recurrent epistaxis, mucocutaneous telangiectasia, and vascular visceral dysplasia responsible for visceral arteriovenous malformations (AVM).

    Aim: to report the experience of two university hospitals (Trousseau, Paris, and CHIC, Creteil) with screening children for HHT and pulmonary AVM (PAVM) using high resolution computed tomography (HRCT). Read More

    [Liver involvement in Rendu-Osler disease: a case report and review of literature].
    Pan Afr Med J 2016 25;24:326. Epub 2016 Aug 25.
    Service de Médicine Interne CHU Hédi Chaker Sfax, Tunisie.
    A 48 years-old-woman was admitted for anectric cholestasis. A history of recurrent personal and familial epistaxis was noted. Biologic findings revealed iron deficiency anemia and moderate cholestasis. Read More

    Persistence in Coil-Embolized Pulmonary Arteriovenous Malformations with Feeding Artery Diameters of 3 mm or Less: A Retrospective Single-Center Observational Study.
    J Vasc Interv Radiol 2017 Mar 26;28(3):442-449. Epub 2017 Jan 26.
    Department of Radiology, Division of Interventional Radiology, and Hereditary Hemorrhagic Telangiectasia Center of Excellence, Hospital of the University of Pennsylvania, Perelman School of Medicine, 1 Silverstein, 3400 Spruce St., Philadelphia, PA19104. Electronic address:
    Purpose: To assess persistence in coil-embolized pulmonary arteriovenous malformations (PAVMs) with feeding artery diameters ≤ 3 mm.

    Materials And Methods: Fifty-eight patients (21 male, 37 female; mean age, 43 y; range, 13-71 y) with 141 simple-type PAVMs treated from 2004 to 2014 were analyzed retrospectively. Inclusion criteria were one or more PAVMs with feeding artery diameters ≤ 3 mm ("small PAVMs"), treatment with coil embolization, and presence of a follow-up chest computed tomographic (CT) angiogram at approximately 6 months. Read More

    Sinonasal quality of life outcomes following laser treatment of epistaxis related to hereditary hemorrhagic telangiectasia.
    Lasers Med Sci 2017 Apr 24;32(3):527-531. Epub 2017 Jan 24.
    Department of Head and Neck Surgery, David Geffen School of Medicine at the University of California Los Angeles (UCLA), 10833 Le Conte Ave, CHS 62-132, Los Angeles, CA, 90095, USA.
    Hereditary hemorrhagic telangiectasia (HHT) is an inherited vascular disorder which manifests as recurrent, episodic, and potentially debilitating epistaxis. In this study, we aim to (1) characterize baseline sinonasal symptoms for HHT patients and to (2) analyze changes in sinonasal symptoms before and after laser surgical treatment for HHT. We performed a retrospective chart review of sinonasal outcome test-22 (SNOT-22) scores before and after one or more laser surgical treatments for HHT-related epistaxis between January 1, 2010 and December 1, 2015 at a tertiary academic medical center with an HHT Foundation-approved Center of Excellence. Read More

    Hereditary hemorrhagic telangiectasia, liver disease and elevated serum testosterone (Osler-Weber-Rendu syndrome): a case report.
    BMC Res Notes 2017 Jan 23;10(1):58. Epub 2017 Jan 23.
    Department of Paediatrics, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.
    Background: A Sri Lankan girl with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) is described.

    Case Presentation: She presented with recurrent spontaneous epistaxis, pulmonary arterio venous malformation and oral telangiectasia. A diagnosis of Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) was made based on the presence of three Curacao criteria (out of four). Read More

    Quality of life in patients with hereditary haemorrhagic telangiectasia (HHT).
    Health Qual Life Outcomes 2017 Jan 23;15(1):19. Epub 2017 Jan 23.
    Department of Radiology, Hospital Universitario Marqués de Valdecilla and Instituto de Investigación Valdecilla (IDIVAL), Santander, Spain.
    Background: There are very few studies about general quality of life parameters, standards for the description of health status and comparison with general population data on patients with Hereditary hemorrhagic telangiectasia (HHT), a rare disease in which epistaxis is a cardinal symptom.

    Purpose: To assess the quality of life in a population of Spanish patients with HHT and compare it with the general population.

    Design And Methods: Between January 1(st) 2005 and December 31(st) 2013, 187 adult patients diagnosed with HHT who were admitted to the HHT Unit of the Hospital Sierrallana, completed on their first visit, the EuroQol 5D-3L (five dimensions and three levels) quality of life descriptive test and the visual analog scale (VAS). Read More

    Influence of temporary nasal occlusion (tNO) on epistaxis frequency in patients with hereditary hemorrhagic telangiectasia (HHT).
    Eur Arch Otorhinolaryngol 2017 Apr 9;274(4):1891-1896. Epub 2017 Jan 9.
    Department of Otorhinolaryngology, University of Regensburg, Franz-Josef-Strauss-Allee 11, 93053, Regensburg, Germany.
    The objective of the study was to evaluate the influence of temporary nasal occlusion (tNO) with hypoallergenic tape on the frequency and severity of epistaxis in patients with hereditary hemorrhagic telangiectasia (HHT). This prospective observational study included 20 HHT patients who were undergoing Nd:YAG laser therapy at regular intervals. Over a 3-month period, laser therapy was supplemented by tNO with hypoallergenic tape for 5 h/day on average. Read More

    Bevacizumab and gastrointestinal bleeding in hereditary hemorrhagic telangiectasia.
    World J Gastrointest Surg 2016 Dec;8(12):792-795
    George Ou, Cherry Galorport, Robert Enns, Division of Gastroenterology, Department of Medicine, St. Paul's Hospital, University of British Columbia, Vancouver, BC V6Z 1Y6, Canada.
    We report a case of severe, refractory gastrointestinal (GI) bleeding in a patient with hereditary hemorrhagic telangiectasia (HHT) whose massive transfusion dependence was lifted shortly after treatment with bevacizumab, an anti-vascular endothelial growth factor. The patient's bleeding had been refractory to repeated endoscopic interventions, tranexamic acid, and tamoxifen. However, following treatment with bevacizumab at 5 mg/kg every other week, nearly 300 units of packed red blood cell transfusions were avoided in one year's time. Read More

    The Prevalence of Malformations of Cortical Development in a Pediatric Hereditary Hemorrhagic Telangiectasia Population.
    AJNR Am J Neuroradiol 2017 Feb 10;38(2):383-386. Epub 2016 Nov 10.
    Department of Pediatrics (L.A.S., A.J.W.), Washington University in St. Louis School of Medicine, St. Louis, Missouri.
    Background And Purpose: Brain AVM, cerebral abscess, and ischemic stroke are among the well known neurologic manifestations of hereditary hemorrhagic telangiectasia. However, recently reported data suggest an additional association with malformations of cortical development. The purpose of this study was to determine the prevalence of malformations of cortical development in a population of pediatric patients with hereditary hemorrhagic telangiectasia. Read More

    Follow-up interval for small untreated pulmonary arteriovenous malformations in hereditary haemorrhagic telangiectasia.
    Clin Radiol 2017 Mar 29;72(3):236-241. Epub 2016 Dec 29.
    National HHT Centre, Mercy University Hospital, Grenville Place, Cork, Ireland; Department of Radiology, Mercy University Hospital, Grenville Place, Cork, Ireland.
    Aim: To investigate the natural history of untreated small (<3 mm) and microscopic pulmonary arteriovenous malformations (PAVMs) in hereditary haemorrhagic telangiectasia (HHT) in order to discern the optimal frequency of follow-up thoracic computed tomography (CT).

    Materials And Methods: A retrospective analysis was performed on the follow-up data for definite and suspected HHT patients with untreated PAVMs.

    Results: For small PAVMs in definite HHT (n=13), PAVM enlargement was identified in one patient (1/13, 7. Read More

    Hereditary Hemorrhagic Telangiectasia and Myocardial Infarction.
    Int J Angiol 2016 Dec 18;25(5):e81-e83. Epub 2015 May 18.
    Cardiology Service, Insular-Materno Infantil University Hospital, Las Palmas de Gran Canaria, Spain.
    Hereditary hemorrhagic telangiectasia, also known as Osler-Weber-Rendu syndrome, is an autosomal dominant genetic disorder that leads to epistaxis, gastrointestinal bleeding, iron deficiency anemia, and arteriovenous malformations at the lungs, the liver, and the brain. However, due to its rarity and its unspecific findings on routine examinations, diagnosis is not easy unless suspected due to hypoxemia or paradoxical embolism. We present a case of a 46-year-old-woman with hereditary hemorrhagic telangiectasia and hypoxemia who presented a myocardial infarction secondary to paradoxical embolism through pulmonary arteriovenous malformations. Read More

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