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hereditary hemorrhagic telangiectasia

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https://www.readbyqxmd.com/read/28638289/diagnosis-and-treatment-of-hereditary-hemorrhagic-telangiectasia
#1
REVIEW
Cameron Grigg, Daniel Anderson, James Earnshaw
BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is a rare genetic disorder known for its debilitating symptoms. More than 90% of patients with HHT experience epistaxis, and they average up to 18 bleeds per month. We review the current literature on the pathophysiology, clinical presentation, and management of HHT. METHODS: We searched MEDLINE, EMBASE, and PubMed and identified 19 articles published since 2000 with current information on HHT. RESULTS: HHT is a disease more commonly associated with significant morbidity rather than mortality...
2017: Ochsner Journal
https://www.readbyqxmd.com/read/28636740/initial-experience-of-a-hereditary-hemorrhagic-telangiectasia-center-of-excellence
#2
Christopher F Thompson, Jeffrey D Suh, Justin McWilliams, Gary Duckwiler, Marilene B Wang
Our objectives in reviewing the initial experience of a hereditary hemorrhagic telangiectasia center of excellence (HHT COE) were to better understand the interventions being performed in the comprehensive care of these patients and to present the early data as a reference for other tertiary centers considering starting an HHT COE. We conducted a retrospective review of consecutive patients referred to our newly developed HHT COE for evaluation and treatment between May 2010 and June 2013. Clinical presentation, otolaryngologic treatments, and other operative interventions were analyzed...
June 2017: Ear, Nose, & Throat Journal
https://www.readbyqxmd.com/read/28626375/intravenous-bevacizumab-therapy-in-a-patient-with-hereditary-hemorrhagic-telangiectasia-eng-e137k-alcoholic-cirrhosis-and-portal-hypertension
#3
Luigi F Bertoli, Pauline L Lee, Lauren Lallone, James C Barton
Intravenous bevacizumab decreased mucosal bleeding in some patients with hereditary hemorrhagic telangiectasia (HHT). We treated a 47-year-old male who had HHT, severe epistaxis, and gastrointestinal bleeding, alcoholic cirrhosis, and portal hypertension with intravenous bevacizumab 2.5 mg/kg every 2 weeks. We tabulated these measures weekly during weeks 1-33 (no bevacizumab); 34-57 (bevacizumab); and 58-97 (no bevacizumab): hemoglobin (Hb) levels; platelet counts; units of transfused packed erythrocytes (PRBC units); and quantities of iron infused as iron dextran to support erythropoiesis...
May 2017: Case Reports in Gastroenterology
https://www.readbyqxmd.com/read/28619257/the-role-of-capsule-endoscopy-and-device-assisted-enteroscopy-for-small-bowel-lesions-in-hereditary-hemorrhagic-telangiectasia
#4
Rossella Cianci, Riccardo Urgesi, Annalisa Tortora, Arianna Amato, Estelle E Newton, Guido Costamagna, Maria Elena Riccioni
BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal-dominant disorder leading to telangiectases and arteriovenous malformations of the skin, mucosa, and viscera. Telangiectases in the upper gastrointestinal tract are known, but data regarding possible small-bowel involvement are poor. AIMS: To evaluate the role of capsule endoscopy (CE) to determine the prevalence of small-bowel telangiectases in HHT patients, and the role of endoscopic treatment of these patients with particular reference to the incidence of re-bleeding after treatment...
May 25, 2017: Digestive and Liver Disease
https://www.readbyqxmd.com/read/28615135/combined-therapy-for-epistaxis-by-hereditary-hemorrhagic-teleangiectasia-a-3-year-follow-up-study-on-45-patients
#5
Giorgos Papaspyrou, Dietmar Hecker, Maximilian Linxweiler, Bernhard Schick, Basel Al Kadah
Hereditary hemorrhagic telangiectasia (HHT) is a mutilating disease associated with the majority of patients with recurrent epistaxis episodes. The aim of this study was to present a single institution experience with patients treated for nasal epistaxis using a combination of Nd:YAG laser and argon plasma coagulation (APC) vs Nd:YAG laser alone, with a minimum follow-up of 3 years. 45 patients (21 men, 24 women) aged from 15 to 84 years with the diagnosis of HHT were treated in the Department of Otolaryngology, Head and Neck Surgery in Homburg/Saar between 10/2002 and 10/2012 because of epistaxis, using a combination of Nd:YAG laser and APC or Nd:YAG laser alone...
May 24, 2017: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/28608633/asymptomatic-pulmonary-arteriovenous-malformations-in-children-with-hereditary-hemorrhagic-telangiectasia
#6
Ashley M Gefen, Andrew J White
BACKGROUND: Children with Hereditary Hemorrhagic Telangiectasia (HHT) may have pulmonary arteriovenous malformations (AVMs), which can lead to symptoms of shortness of breath, exercise intolerance, clubbing, cyanosis and hemoptysis. However, some patients with pulmonary AVMs may be asymptomatic, placing them at risk for complications such as stroke or brain abscess if they are not identified and treated. This study examines the incidence of signs and symptoms associated with pulmonary AVMs in children with HHT known to have pulmonary AVMs...
June 13, 2017: Pediatric Pulmonology
https://www.readbyqxmd.com/read/28603431/hereditary-hemorrhagic-telangiectasia-and-pregnancy-potential-adverse-events-and-pregnancy-outcomes
#7
REVIEW
Omar Bari, Philip R Cohen
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant condition with a prevalence of ~1 in 5,000 individuals. The pathophysiology of this condition centers on the lack of capillary beds between arterioles and venules, leading to direct contact between these vessels. This results in telangiectases on characteristic locations such as the face, fingers, mouth, and nasal mucosa. Visceral arteriovenous malformations (AVMs) are also observed in many patients, and these are most commonly seen in the brain, gastrointestinal tract, and lungs...
2017: International Journal of Women's Health
https://www.readbyqxmd.com/read/28592738/a-case-of-hereditary-hemorrhagic-telangiectasia-with-hepatic-encephalopathy-due-to-portal-hepatic-venous-shunt
#8
Kazumasa Ono, Toshimasa Obara, Miki Takeshita, Shinichiro Inoue, Shinjirou Mizukawa, Hiroshi Hasegawa, Koichi Kozaki
An 86-year-old male who was able to perform all activities of daily living (ADL) was diagnosed with hereditary hemorrhagic telangiectasia (HHT) at 70 years of age. Following his diagnosis, he had been receiving treatment at our hospital. After the sudden onset of a consciousness disorder, he was admitted to our hospital's emergency department with asterixis, a high serum ammonia level, and hepatic encephalopathy. After angiography, he was diagnosed with hepatic encephalopathy due to portal hepatic venous shunts...
2017: Nihon Ronen Igakkai Zasshi. Japanese Journal of Geriatrics
https://www.readbyqxmd.com/read/28588815/familial-cerebral-abscesses-caused-by-hereditary-hemorrhagic-telangiectasia
#9
Pernille Mathiesen Tørring, Mathilde Faurholdt Lauridsen, Christine I Dali, Poul Erik Andersen, Lillian Bomme Ousager, Klaus Brusgaard, Anette Kjeldsen
In case of a cerebral abscess without known cause, Pulmonary arteriovenous malformations (PAVM) screening should be performed. If PAVM(s) is identified, Hereditary hemorrhagic telangiectasia (HHT) is very likely and should always be considered. This case shows the benefit of familial screening for HHT and PAVM.
June 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28578477/prevalence-of-hereditary-hemorrhagic-telangiectasia-in-patients-operated-for-cerebral-abscess-a-retrospective-cohort-analysis
#10
L Larsen, C R Marker, A D Kjeldsen, F R Poulsen
It is well described that patients with pulmonary arteriovenous malformations (PAVMs) and Hereditary Hemorrhagic Telangiectasia (HHT) have an increased risk of cerebral abscess (CA). However, as both CA and HHT are rare, the proportion of patients with CA who are diagnosed with HHT has not been previously described. A retrospective study was carried out of all patients treated surgically for CA between January 1995 and September 2014 at the Department of Neurosurgery, Odense University Hospital. The cases were then cross-referenced with the Danish HHT database...
June 3, 2017: European Journal of Clinical Microbiology & Infectious Diseases
https://www.readbyqxmd.com/read/28566940/high-output-cardiac-failure-due-to-hereditary-hemorrhagic-telangiectasia-a-case-of-an-extra-cardiac-left-to-right-shunt
#11
Patrick R Wu, Amber Horwith, Stephanie Mai, Milind Parikh, Gaurav Tyagi, Ramdas G Pai
High-output cardiac failure is a rare complication of hereditary hemorrhagic telangiectasia and can potentially be mistaken for other entities. We present a case of high-output cardiac failure because of large hepatic arteriovenous malformations, review the literature regarding the cardiac manifestations of the disease, and discuss the possible differential diagnoses.
June 2017: International Journal of Angiology: Official Publication of the International College of Angiology, Inc
https://www.readbyqxmd.com/read/28564608/structural-basis-of-the-human-endoglin-bmp9-interaction-insights-into-bmp-signaling-and-hht1
#12
Takako Saito, Marcel Bokhove, Romina Croci, Sara Zamora-Caballero, Ling Han, Michelle Letarte, Daniele de Sanctis, Luca Jovine
Endoglin (ENG)/CD105 is an essential endothelial cell co-receptor of the transforming growth factor β (TGF-β) superfamily, mutated in hereditary hemorrhagic telangiectasia type 1 (HHT1) and involved in tumor angiogenesis and preeclampsia. Here, we present crystal structures of the ectodomain of human ENG and its complex with the ligand bone morphogenetic protein 9 (BMP9). BMP9 interacts with a hydrophobic surface of the N-terminal orphan domain of ENG, which adopts a new duplicated fold generated by circular permutation...
May 30, 2017: Cell Reports
https://www.readbyqxmd.com/read/28524787/cerebral-hemorrhage-in-monozygotic-twins-with-hereditary-hemorrhagic-telangiectasia-case-report-and-hemorrhagic-risk-evaluation
#13
Abbas Rattani, Michael C Dewan, Vickie Hannig, Robert P Naftel, John C Wellons, Lori C Jordan
The authors present a case of monozygotic twins with hereditary hemorrhagic telangiectasia (HHT) who experienced cerebral arteriovenous malformation (AVM) hemorrhage at a very young age. The clinical variables influencing HHT-related AVM rupture are discussed, and questions surrounding the timing of screening and intervention are explored. This is only the second known case of monozygotic HHT twins published in the medical literature, and the youngest pair of first-degree relatives to experience AVM-related cerebral hemorrhage...
May 19, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28521822/central-nervous-system-manganese-induced-lesions-and-clinical-consequences-in-patients-with-hereditary-hemorrhagic-telangiectasia
#14
M M Serra, C H Besada, A Cabana Cal, A Saenz, C V Stefani, D Bauso, A B Golimstok, J C Bandi, D H Giunta, C M Elizondo
BACKGROUND: Around 47-74% of patients with hereditary hemorrhagic telangiectasia (HHT) have hepatic vascular malformations (HVMs); magnetic resonance images (MRI) of the central nervous system (CNS) might show in T1 sequences a hyper-intensity signal in different areas, mainly in the basal ganglia (BG) as consequence of manganese (Mn) deposits as observed in cirrhotic patients. These patients might suffer from different neuropsychiatric disorders (hepatic encephalopathy). In HHT patients, even in the presence of hepatic shunts, hepatocellular function is usually preserved...
May 18, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28494714/is-the-hepatic-factor-a-mirna-that-maintains-the-integrity-of-pulmonary-microvasculature-by-inhibiting-the-vascular-endothelial-growth-factor
#15
Joseph John Vettukattil
The "hepatic factor," a molecule or group of molecules present in the hepatic venous blood, essential for the prevention of the development of pulmonary arteriovenous malformations (PAVMs) and right-to-left shunting has been a conceptual enigma in the understanding of many related conditions. Patients with various forms of liver diseases including acute hepatic failure, and others with normal hepatic function like hereditary hemorrhagic telangiectasia (HHT), inflammatory and parasitic disorders, cardiogenic hepatopulmonary syndrome (cHPS) and skin disorders like Dyskeratosis congenita are all known to cause PAVMs...
May 9, 2017: Current Cardiology Reviews
https://www.readbyqxmd.com/read/28490409/endoscopic-guided-coblation-treatment-of-nasal-telangiectasias-in-hereditary-hemorrhagic-telangiectasia-how-i-do-it
#16
David M Poetker
INTRODUCTION: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disease that leads to frequent epistaxis. It can have a significant impact on quality of life. Many reports exist regarding various therapies to address the epistaxis. MATERIALS AND METHODS: We presented our technique for addressing the epistaxis associated with HHT. RESULTS: Patients are treated in the operating room while they are under general anesthesia...
May 1, 2017: American Journal of Rhinology & Allergy
https://www.readbyqxmd.com/read/28482718/pregnancy-and-mesenchimal-dysplasias-marfan-syndrome-ehlers-danlos-syndrome-hereditary-hemorrhagic-telangiectasia
#17
L S Radetskaya, A D Makatsariya, V O Bitsadze, J K Khizroeva
No abstract text is available yet for this article.
May 9, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28461180/giant-symptomatic-aneurysm-secondary-to-hereditary-hemorrhagic-telangiectasia-of-a-main-hepatic-artery-with-aberrant-origin-in-superior-mesenteric-artery
#18
Francisco Javier Peinado Cebria N, Santiago Este Banez Seco, A Ngel Flores-Herrero, Ricardo Montoya Ching, Benito Mendez Feria, Diego Soto Valdés, Maria Pilar Lamarca Mendoza, Antonio Orgaz Pe Rez-Grueso
INTRODUCTION: Hereditary Hemorragic Telangiectasia (HHT) is a rare disease consistent in vascular dysplasias affecting different organs. Liver involvement includes telangiectases, arteriovenous shunting, and ischemic cholangitis, and its prevalence ranges from 8 to 31%. Spontaneous pseudo aneurysms have never been reported associated to HHT. Several variations in the origin of the main hepatic artery (MHA) have been described in large radiological series, and can be found in around 4% of general population...
April 28, 2017: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/28430541/a-comprehensive-approach-to-hepatic-vascular-disease
#19
Khaled M Elsayes, Akram M Shaaban, Sarah M Rothan, Sanaz Javadi, Beatrice L Madrazo, Rosa P Castillo, Victor J Casillas, Christine O Menias
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. In this article, the authors discuss a spectrum of variants and pathologic conditions that may involve the liver vasculature...
May 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/28427830/liver-transplantation-for-hereditary-hemorrhagic-telangiectasia-a-systematic-review
#20
REVIEW
Emanuele Felli, Pietro Addeo, François Faitot, Gennaro Nappo, Constantin Oncioiu, Philippe Bachellier
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...
April 17, 2017: HPB: the Official Journal of the International Hepato Pancreato Biliary Association
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