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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
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
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
Nicolò Binello, Antonio Gasbarrini, Eleonora Gaetani
Rendu-Osler-Weber syndrome, or hereditary hemorrhagic teleangiectasia (HHT), is a rare autosomal dominant vascular disorder, characterized by multiple mucocutaneous teleangiectases with recurrent nasal and gastrointestinal bleedings and/or solid-organ arteriovenous shunts. We describe the first case to our knowledge of pancytopenia in a 53-year-old patient, with a known history of HHT and recurrent nasal and gastrointestinal bleedings, who was found to have a major splenic artery aneurysm and other uncommon vascular abnormalities...
2016: Case Reports in Hematology
Leandro Cardarelli-Leite, Fernanda Garozzo Velloni, Priscila Silveira Salvadori, Marcelo Delboni Lemos, Giuseppe D'Ippolito
Abdominal vascular syndromes are rare diseases. Although such syndromes vary widely in terms of symptoms and etiologies, certain imaging findings are characteristic. Depending on their etiology, they can be categorized as congenital-including blue rubber bleb nevus syndrome, Klippel-Trenaunay syndrome, and hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome)-or compressive-including "nutcracker" syndrome, median arcuate ligament syndrome, Cockett syndrome (also known as May-Thurner syndrome), and superior mesenteric artery syndrome...
July 2016: Radiologia Brasileira
Françoise Boehlen, Basile N Landis, Laurent Spahr, Anne-Lise Hachulla, Emmanuelle Ranza, Thierry Nouspikel, Frédéric Lador, Kaveh Samii, Stéphane Noble
The Rendu-Osler-Weber disease, also known as hereditary haemorrhagic telangiectasia, is an autosomal dominant inherited disease. Its main manifestations are nosebleeds and digestive tract bleeding due to angiodysplasia. The presence of arteriovenous malformations in organs such as lung, liver, brain, etc. can cause serious complications (haemorrhage, stroke, brain abscess, hypoxemia, increased cardiac output, pulmonary arterial hypertension). Diagnosis is based on clinical criteria and can be confirmed by genetic analysis...
May 25, 2016: Revue Médicale Suisse
Şule Koşar, Betül Kızıldağ, Arzu Canan, Ozan Karatağ, Uğur Gönlügür, Abdullah Sarıyıldırım
Hereditary hemorrhagic telangiectasia (HHT), or Rendu-Osler-Weber syndrome (ROWS) is a very rare hereditary disease. The diagnosis is based on the clinical findings such as recurrent epistaxis, telangiectases, visceral arteriovenous malformations (AVMs) and family history. AVMs are found in the liver, lung or brain and could mimick the masses of these organs. Radiologic evaluation plays a critical role during diagnostic and therapeutic management of ROWS. Hence, radiologists should be aware of the diagnosis of HHT in the patients with AVMs, history of epistaxis and family history...
March 2016: Tüberküloz Ve Toraks
E Lücke, J Schreiber, M Zencker, R Braun-Dullaeus, J Herold
A 72-year-old female patient presented with increasing dyspnea of unclear origin classified as New York Heart Association stage III (NYHA III). Using transesophageal echocardiography a patent foramen ovale (PFO) and right heart failure could be diagnosed. Right heart catheterization revealed a large left to right shunt due to an arteriovenous malformation in the liver. Because of additional telangiectasia of the lips the presumptive diagnosis was Rendu-Osler-Weber disease. Typical nosebleeds and other symptoms of the disease were lacking and only two out of four Curaçao criteria were positive; therefore, genetic testing was performed, which verified the clinical diagnosis...
June 2016: Der Internist
Luisa Ojeda-Fernández, Lucía Recio-Poveda, Mikel Aristorena, Pedro Lastres, Francisco J Blanco, Francisco Sanz-Rodríguez, Eunate Gallardo-Vara, Mateo de las Casas-Engel, Ángel Corbí, Helen M Arthur, Carmelo Bernabeu, Luisa M Botella
Endoglin is an auxiliary receptor for members of the TGF-β superfamily and plays an important role in the homeostasis of the vessel wall. Mutations in endoglin gene (ENG) or in the closely related TGF-β receptor type I ACVRL1/ALK1 are responsible for a rare dominant vascular dysplasia, the Hereditary Hemorrhagic Telangiectasia (HHT), or Rendu-Osler-Weber syndrome. Endoglin is also expressed in human macrophages, but its role in macrophage function remains unknown. In this work, we show that endoglin expression is triggered during the monocyte-macrophage differentiation process, both in vitro and during the in vivo differentiation of blood monocytes recruited to foci of inflammation in wild-type C57BL/6 mice...
March 2016: PLoS Genetics
Roberto Zarrabeitia, Luisa Ojeda-Fernandez, Lucia Recio, Carmelo Bernabéu, Jose A Parra, Virginia Albiñana, Luisa M Botella
Hereditary haemorrhagic telangiectasia (HHT), or Rendu-Osler-Weber syndrome, is a dominant genetic vascular disorder. In HHT, blood vessels are weak and prone to bleeding, leading to epistaxis and anaemia, severely affecting patients' quality of life. Development of vascular malformations in HHT patients is originated mainly by mutations in ACVRL1/ALK1 (activin receptor-like kinase type I) or Endoglin (ENG) genes. These genes encode proteins of the TGF-β signalling pathway in endothelial cells, controlling angiogenesis...
June 2, 2016: Thrombosis and Haemostasis
A Hosman, C J J Westermann, R Snijder, F Disch, C L Mummery, J J Mager
BACKGROUND: Patients with a hereditary vascular disorder called Rendu-Osler-Weber syndrome (Hereditary Haemorrhagic Telangiectasia, HHT) haemorrhage easily due to weak-walled vessels. Haemorrhage in lungs or brain can be fatal but patients suffer most from chronic and prolonged nosebleeds (epistaxis), the frequency and intensity of which increases with age. Several years ago, it was discovered serendipitously that the drug Thalidomide had beneficial effects on the disease symptoms in several of a small group of HHT patients: epistaxis and the incidence of anaemia were reduced and patients required fewer blood transfusions...
December 2015: Rhinology
L Coremans, B Van den Bossche, I Colle
BACKGROUND AND STUDY AIMS: Hepatic involvement in hereditary hemorrhagic telangiectasia (HHT) is usually asymptomatic and does not require treatment. However, when present, clinical manifestations can cause considerable morbidity and mortality. Current expertise in the variable clinical manifestations and recommendations for diagnostic approach and management of hepatic involvement in HHT are outlined. METHODS AND MATERIALS: A review of current literature was performed using the MEDLINE search string: "Hereditary hemorrhagic telangiectasia [ALL] OR Rendu-Osler-Weber [ALL] AND (liver OR hepatic [ALL])"...
July 2015: Acta Gastro-enterologica Belgica
N Courcoutsakis, P Peihaberis, H Erkotidou, P Prassopoulos
No abstract text is available yet for this article.
March 2016: Journal of Gastroenterology and Hepatology
B Camus, R Jacquerie, F Gilis
Rendu-Osler-Weber disease, also known as hereditary haemorrhagic telangiectasia, is a genetic disease characterized by an autosomal dominant transmission that causes multiple angiodysplasic lesions, and multiple arteriovenous malformations. Among these, pulmonary arteriovenous malformation is the most common, and is found in approximately 70% of patients that suffer from this syndrome. In a representative population sample, it is recognized that 90% of the patients that have a pulmonary arteriovenous malformation suffer in fact from Rendu-Osler-Weber disease...
July 2015: Revue Médicale de Liège
Aline Blanco Barbosa, Günter Hans Filho, Carolina Faria dos Santos Vicari, Marcelo Zanolli Medeiros, Daíne Vargas Couto, Luiz Carlos Takita
The Rendu-Osler-Weber syndrome is a rare systemic fibrovascular dysplasia, recognized by mucocutaneous telangiectasias, arteriovenous malformations, epistaxis and family history. Recurrent bleeding, hypoxemia, congestive heart failure, portosystemic encephalopathy, and symptoms related to angiodysplasia of the central nervous system may occur. Since the treatment is based on supportive measures, early recognition is of utmost importance. This article reports the case of a 53-year-old male patient who presented telangiectasias on fingers, oral cavity and nasal mucosa for 10 years, with a history of recurrent epistaxis of varying severity since childhood...
May 2015: Anais Brasileiros de Dermatologia
Prachee Deshpande, Shreepad Bhat, Anup Karmarkar
Hereditary Haemorrhagic Telangiectasia also known as Osler-Rendu-Weber disease is a rare autosomal dominant disorder affecting small vessels of skin and mucosa, usually misdiagnosed because of its non specific symptomatology. This disease usually presents as 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 anaemia. Herein, we report a case of a 60 year-old man with severe anaemia resulting in congestive cardiac failure who ultimately was diagnosed as hereditary haemorrhagic telangiectasia with recurrent epistaxis as a cause of his severe anaemia...
December 2014: Journal of the Association of Physicians of India
Malik Babaker, Stephane Breault, Catherine Beigelman, Romain Lazor, Nicole Aebischer, Salah Dine Qanadli
PRINCIPLES: To assess the efficiency and complication rates of vaso-occlusion of pulmonary arteriovenous malformations (PAVMs) in Rendu-Osler-Weber disease (hereditary haemorrhagic telangectasia; HHT). METHODS: Seventy-two patients were investigated in our institution for HHT between March 2000 and November 2011. Sixteen presented PAVMs (22.2%), and 11 (68.8%) were treated with vaso-occlusion for a total of 18 procedures. Procedures included coils, plugs and combined approaches...
2015: Swiss Medical Weekly
Ferdos Alaa El Din, Sylvie Patri, Vincent Thoreau, Montserrat Rodriguez-Ballesteros, Eva Hamade, Sabine Bailly, Brigitte Gilbert-Dussardier, Raghida Abou Merhi, Alain Kitzis
Hereditary Hemorrhagic Telangiectasia syndrome (HHT) or Rendu-Osler-Weber (ROW) syndrome is an autosomal dominant vascular disorder. Two most common forms of HHT, HHT1 and HHT2, have been linked to mutations in the endoglin (ENG) and activin receptor-like kinase 1 (ACVRL1or ALK1) genes respectively. This work was designed to examine the pathogenicity of 23 nucleotide variations in ACVRL1 gene detected in more than 400 patients. Among them, 14 missense mutations and one intronic variant were novels, and 8 missense mutations were previously identified with questionable implication in HHT2...
2015: PloS One
Kamini Gupta, Kavita Saggar, Amit Goyal, Avik Banerjee
The expectoration of blood originating from the lower respiratory tract, called hemoptysis, is a common clinical condition with many potential etiologies. Massive hemoptysis is life threatening and needs urgent intervention. Multidetector computed tomography (MDCT) is a useful non-invasive imaging modality for the initial assessment of hemoptysis. Using MDCT with multiplanar reformatted images has improved the diagnosis and management of hemoptysis by providing a more precise depiction of bronchial and non-bronchial systemic arteries than conventional computed tomography (CT)...
May 2015: Oman Medical Journal
Abdulla Watad, Victor Belsky, Yehuda Shoenfeld, Howard Amital
No abstract text is available yet for this article.
May 2015: Israel Medical Association Journal: IMAJ
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