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https://www.readbyqxmd.com/read/29662934/bevacizumab-for-refractory-gastrointestinal-bleeding-in-rendu-osler-weber-disease
#1
Carlos Bernardes, Sara Santos, Rafaela Loureiro, Verónica Borges, Gonçalo Ramos
Rendu-Osler-Weber disease, also known as hereditary hemorrhagic telangiectasia, is a rare autosomal dominant disorder which is often characterized by recurrent epistaxis, mucocutaneous and gastrointestinal telangiectasias, and visceral arteriovenous malformations. Patients with gastrointestinal involvement can present with a wide spectrum of severity, which may vary from uncomplicated iron deficiency anemia to continuous and refractory bleeding. We present the case of a 62-year-old female, who was admitted with anemia following several episodes of melena, and whose endoscopic examination revealed multiple angiodysplasias in the stomach and small bowel...
March 2018: GE Portuguese Journal of Gastroenterology
https://www.readbyqxmd.com/read/29593876/life-threatening-hemoptysis-case-of-osler-weber-rendu-syndrome
#2
Ricardo Alicea-Guevara, Michael Cruz Caliz, Jose Adorno, Ricardo Fernandez, Kelvin Rivera, Gustavo Gonzalez, Ricardo Alan Hernandez-Castillo, Rosangela Fernandez, Christian Castillo Latorre
Hereditary haemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a rare autosomal dominant vascular disorder. Patients with HHT may present with a wide spectrum of clinical manifestations, some considered to be life-threatening. We present the case of a 53-year-old male who presented with massive haemoptysis. Chest computed tomography scan was remarkable for a large anterior, left lower lobe arteriovenous malformation. The patient underwent a pulmonary angiogram with embolization of a large left lung arteriovenous malformation, which proved to be successful in controlling the bleeding...
March 2018: Oxford Medical Case Reports
https://www.readbyqxmd.com/read/29552242/congestive-cirrhosis-in-osler-weber-rendu-syndrome-a-rare-case-report
#3
Patrícia Leitão, André Carvalho, Conceição Guerra, José Gonçalves, Isabel Ramos
Hereditary hemorrhagic telangiectasia or Osler-Weber-Rendu syndrome is a rare autosomal dominant vascular disorder characterized by epistaxis, mucocutaneous telangiectasias, and arteriovenous malformations affecting various organs and systems. The liver is a commonly involved organ (74% of patients with hereditary hemorrhagic telangiectasia), although symptomatic liver disease is quite infrequent. In symptomatic cases, clinical manifestations relate most commonly to the predominant type of vascular shunting present (arteriovenous, arterioportal, or portovenous)...
February 2018: Radiology Case Reports
https://www.readbyqxmd.com/read/29515340/severe-hepatic-and-pulmonary-involvement-in-rendu-osler-weber-syndrome
#4
Xavier Verhelst, Anja Geerts, Hans Van Vlierberghe, Peter Smeets, Clarisse Lecluyse
We report the case of a young woman with hereditary hemorrhagic telangiectasia (HHT) with severe liver involvement and pulmonary shunting. The medical imaging in this patient illustrates the severe shunting that can occur in these patients who often are asymptomatic. By showing this case, we want to highlight the role of liver transplantation in HHT with hepatic involvement.
January 2018: Case Reports in Gastroenterology
https://www.readbyqxmd.com/read/29313587/hereditary-haemorrhagic-telangiectasia-with-severe-anemia-and-recurrent-cns-infections
#5
Nrushen Peesapati, Pbpr Naidu, S Sunitha, P V Sivaram
Hereditary Haemorrhagic Telangiectasia, also known as Osler-Rendu-Weber disease is a rare autosomal dominant disorder affecting small vessels of multiple systems whose main pathological change is the presence of abnormal arteriovenous communications. Usually presents as skin and mucosal telangiectasias, epistaxis, gastrointestinal bleeding and visceral arteriovenous malformations. Although the epistaxis and gastrointestinal blood loss can result in anaemia, patients with hereditary haemorrhagic telangiectasia rarely presents as severe anaemia1 or CNS infections...
September 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/29295777/hereditary-haemorrhagic-telangiectasia-in-pregnancy-regional-and-general-anaesthesia
#6
M Crawford, R Burns, S Cooper, T Mackay
Hereditary haemorrhagic telangiectasia, also known as Osler-Weber-Rendu disease, is a rare autosomal dominant multisystem disorder, characterised by mucocutaneous telangiectases and arteriovenous malformations affecting any organ. The physiological changes in pregnancy pose significant obstetric and anaesthetic challenges for women affected by the disease. The optimal timing and mode of delivery requires careful consideration; and the benefits and risks of both regional and general anaesthetic techniques must be carefully considered, depending on the organs affected...
February 2018: International Journal of Obstetric Anesthesia
https://www.readbyqxmd.com/read/29068144/branch-retinal-artery-occlusion-as-a-clinical-manifestation-of-hereditary-haemorrhagic-telangiectasia-osler-weber-rendu-syndrome-in-pregnancy
#7
Andreas J Askim, Alexander S Thrane, Petter Giaever, Rune Andersen, Jørgen Krohn
No abstract text is available yet for this article.
March 2018: Acta Ophthalmologica
https://www.readbyqxmd.com/read/28836046/gastrointestinal-manifestations-of-hereditary-hemorrhagic-telangiectasia-hht-a-systematic-review-of-the-literature
#8
REVIEW
Samuel B Jackson, Nicholas P Villano, Jihane N Benhammou, Michael Lewis, Joseph R Pisegna, David Padua
Hereditary hemorrhagic telangiectasia (HHT), also called Osler-Weber-Rendu syndrome, is an autosomal dominant genetic disease that affects the vasculature of numerous organs. The prevalence of HHT is estimated to be between 1.5 and 2 persons per 10,000. While there is still much to learn about this condition, there is an increasing understanding its underlying pathophysiology, genetic basis, presentations, and management. Recognizing that the clinical manifestations of HHT can involve a number of organ systems will provide clinicians with a higher index of suspicion for the disease...
October 2017: Digestive Diseases and Sciences
https://www.readbyqxmd.com/read/28759897/pulmonary-hypertension-in-a-patient-with-hereditary-hemorrhagic-telangiectasia
#9
Dorothy Liu, Kunal Sindhu, Allison Witkin, Lakir Patel, Richard Channick
t Hereditary Hemorrhagic Telangiectasia (HHT), also known as Osler-Weber-Rendu Disease, is an autosomal dominant genetic disorder that is characterized by the abnormal development of blood vessels. While the pathophysiology underlying the development of pulmonary hypertension (PH) in patients with HHT is not fully understood, it is believed to occur by one of two mechanisms: increases in pulmonary vascular resistance or cardiac output. In the following report, we describe an interesting case of a 26-year-old woman with HHT whose right heart catheterization initially demonstrated PH with elements of both pre- and post-capillary PH...
August 1, 2017: Rhode Island Medical Journal
https://www.readbyqxmd.com/read/28759737/differential-diagnosis-of-hepatopulmonary-syndrome-hps-portopulmonary-hypertension-pph-and-hereditary-hemorrhagic-telangiectasia-hht
#10
REVIEW
Inna Krynytska, Mariya Marushchak, Anna Mikolenko, Anzhela Bob, Iryna Smachylo, Ludmyla Radetska, Olga Sopel
Hepatopulmonary syndrome (HPS) is a severe complication of advanced liver disease associated with an extremely poor prognosis. HPS is diagnosed in 4-47% of patients with cirrhosis and in 15-20% of candidates for liver transplantation. In addition, severe hypoxia is associated with a high risk of complications of liver transplantation (a 30% chance during the first 90 days) and increases the gap between transplantation and improving arterial oxygenation. The pathogenesis of HPS is not fully understood, and no effective pharmacological treatment has been developed yet...
November 20, 2017: Bosnian Journal of Basic Medical Sciences
https://www.readbyqxmd.com/read/28481989/left-atrioventricular-valve-replacement-in-a-patient-with-hereditary-haemorrhagic-telangiectasia
#11
Yasunori Iida, Naritaka Kimura, Akinori Hirano, Hideyuki Shimizu
Hereditary haemorrhagic telangiectasia, or Osler-Rendu-Weber disease, is characterized by multiple arteriovenous malformations and telangiectasia which develop in the brain, lungs or liver. We report the case of a patient who had severe left atrioventricular valve regurgitation with atrial fibrillation after atrioventricular septal defect repair in her childhood and was diagnosed as having hereditary haemorrhagic telangiectasia by chance. The patient underwent successful left atrioventricular valve replacement and maze operation...
August 1, 2017: Interactive Cardiovascular and Thoracic Surgery
https://www.readbyqxmd.com/read/28417691/telangiectasias-in-osler-weber-rendu-syndrome
#12
Jason E Cohn, Joshua Scharf
No abstract text is available yet for this article.
July 2017: Otolaryngology—Head and Neck Surgery
https://www.readbyqxmd.com/read/28394685/a-case-report-of-hereditary-hemorrhagic-telangiectasia-diagnosed-in-a-podiatric-medical-patient
#13
Kunal Amin, Douglas Mckay
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. To our knowledge, the literature does not present any case reports in which cutaneous manifestations of the lower extremities followed by a further work-up allowed a diagnosis of HHT...
March 2017: Journal of the American Podiatric Medical Association
https://www.readbyqxmd.com/read/28348036/tgf-%C3%AE-signaling-in-control-of-cardiovascular-function
#14
REVIEW
Marie-José Goumans, Peter Ten Dijke
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...
February 1, 2018: Cold Spring Harbor Perspectives in Biology
https://www.readbyqxmd.com/read/28224235/oral-mucosal-changes-induced-by-anticancer-targeted-therapies-and-immune-checkpoint-inhibitors
#15
REVIEW
Emmanuelle Vigarios, Joel B Epstein, Vincent Sibaud
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...
May 2017: Supportive Care in Cancer: Official Journal of the Multinational Association of Supportive Care in Cancer
https://www.readbyqxmd.com/read/28210642/high-output-heart-failure-contributing-to-recurrent-epistaxis-kiesselbach-area-syndrome-in-a-patient-with-hereditary-hemorrhagic-telangiectasia
#16
Venugopal Brijmohan Bhattad, Jennifer N Bowman, Hemang B Panchal, Timir K Paul
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...
January 2017: Journal of Investigative Medicine High Impact Case Reports
https://www.readbyqxmd.com/read/28115008/hereditary-hemorrhagic-telangiectasia-liver-disease-and-elevated-serum-testosterone-osler-weber-rendu-syndrome-a-case-report
#17
R Dissanayake, K P K Y M D S Wickramarathne, S N Seneviratne, S N Perera, M U J Fernando, V P Wickramasinghe
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). Evaluations of her jaundice revealed chronic parenchymal liver disease with multiple nodules in the liver with early portal hypertension...
January 23, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/28087692/underuse-of-screening-in-osler-weber-rendu-syndrome
#18
LETTER
O M P Jolobe
No abstract text is available yet for this article.
May 1, 2017: QJM: Monthly Journal of the Association of Physicians
https://www.readbyqxmd.com/read/28031662/hereditary-hemorrhagic-telangiectasia-and-myocardial-infarction
#19
Efrén Martínez-Quintana, Fayna Rodríguez-González, Silvia Gopar-Gopar
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...
December 2016: International Journal of Angiology: Official Publication of the International College of Angiology, Inc
https://www.readbyqxmd.com/read/27986467/guidelines-of-the-french-society-of-otorhinolaryngology-sforl-short-version-specific-treatment-of-epistaxis-in-rendu-osler-weber-disease
#20
REVIEW
L Robard, J Michel, V Prulière Escabasse, E Bequignon, B Vérillaud, O Malard, L Crampette
OBJECTIVES: The authors present the guidelines of the French Oto-Rhino-Laryngology - Head and Neck Surgery Society (Société Française d'Oto-Rhino-Laryngologie et de Chirurgie de la Face et du Cou: SFORL) concerning specific treatment of epistaxis in Rendu-Osler-Weber disease. METHODS: A multidisciplinary work-group was entrusted with a review of the scientific literature on the above topic. Guidelines were drawn up, based on the articles retrieved and the group members' individual experience...
February 2017: European Annals of Otorhinolaryngology, Head and Neck Diseases
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