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    Diagnosis and Treatment of Hereditary Hemorrhagic Telangiectasia.
    Ochsner J 2017 ;17(2):157-161
    Department of Otolaryngology, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia.
    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. Read More

    Initial experience of a hereditary hemorrhagic telangiectasia center of excellence.
    Ear Nose Throat J 2017 Jun;96(6):E33-E36
    Department of Otolaryngology, Northwestern University, 675 N. St. Clair, Galter Pavilion 15th Floor, Room 200, Chicago, IL 60614.
    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. Read More

    Intravenous Bevacizumab Therapy in a Patient with Hereditary Hemorrhagic Telangiectasia, ENG E137K, Alcoholic Cirrhosis, and Portal Hypertension.
    Case Rep Gastroenterol 2017 May-Aug;11(2):293-304. Epub 2017 May 17.
    Department of Medicine, Brookwood Medical Center, Birmingham, Alabama, USA.
    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. Read More

    The Role of capsule endoscopy and device assisted enteroscopy for small bowel lesions in hereditary hemorrhagic telangiectasia.
    Dig Liver Dis 2017 May 25. Epub 2017 May 25.
    Endoscopy Unit, Catholic University, Largo A. Gemelli, 8, 00168, Rome, Italy. Electronic address:
    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. Read More

    Combined therapy for epistaxis by hereditary hemorrhagic teleangiectasia: A 3-year follow up study on 45 patients.
    J Craniomaxillofac Surg 2017 May 24. Epub 2017 May 24.
    Department of Otorhinolaryngology, (Head: Prof. S. Bernhard, MD), University Medical Centre Homburg/Saar, Kirrberg Straße, 66421, Homburg/Saar, Germany.
    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. Read More

    Asymptomatic pulmonary arteriovenous malformations in children with hereditary hemorrhagic telangiectasia.
    Pediatr Pulmonol 2017 Jun 13. Epub 2017 Jun 13.
    Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri.
    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. Read More

    Hereditary hemorrhagic telangiectasia and pregnancy: potential adverse events and pregnancy outcomes.
    Int J Womens Health 2017 26;9:373-378. Epub 2017 May 26.
    Department of Dermatology, University of California San Diego, La Jolla, CA, USA.
    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. Read More

    A case of hereditary hemorrhagic telangiectasia with hepatic encephalopathy due to portal hepatic venous shunt.
    Nihon Ronen Igakkai Zasshi 2017 ;54(2):179-185
    Department of Geriatric Medicine, Kyorin Medical University.
    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. Read More

    Familial cerebral abscesses caused by hereditary hemorrhagic telangiectasia.
    Clin Case Rep 2017 Jun 13;5(6):805-808. Epub 2017 Apr 13.
    Department of OtorhinolaryngologyOdense University HospitalSdr. Boulevard 29DK-5000Odense CDenmark.
    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. Read More

    Prevalence of hereditary hemorrhagic telangiectasia in patients operated for cerebral abscess: a retrospective cohort analysis.
    Eur J Clin Microbiol Infect Dis 2017 Jun 3. Epub 2017 Jun 3.
    Department of Neurosurgery, Odense University Hospital, 5000, Odense, Denmark.
    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. Read More

    High-Output Cardiac Failure Due to Hereditary Hemorrhagic Telangiectasia: A Case of an Extra-Cardiac Left to Right Shunt.
    Int J Angiol 2017 Jun 2;26(2):125-129. Epub 2016 Jun 2.
    Division of Cardiology, Loma Linda University Medical Center, Loma Linda, California.
    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. Read More

    Structural Basis of the Human Endoglin-BMP9 Interaction: Insights into BMP Signaling and HHT1.
    Cell Rep 2017 May;19(9):1917-1928
    Department of Biosciences and Nutrition and Center for Innovative Medicine, Karolinska Institutet, Huddinge 14183, Sweden. Electronic address:
    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. Read More

    Cerebral hemorrhage in monozygotic twins with hereditary hemorrhagic telangiectasia: case report and hemorrhagic risk evaluation.
    J Neurosurg Pediatr 2017 May 19:1-6. Epub 2017 May 19.
    Pediatric Neurology, Department of Pediatrics, Vanderbilt University Medical Center, Monroe Carell Jr. Children's Hospital at Vanderbilt, Nashville, Tennessee.
    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. Read More

    Central nervous system manganese induced lesions and clinical consequences in patients with hereditary hemorrhagic telangiectasia.
    Orphanet J Rare Dis 2017 May 18;12(1):92. Epub 2017 May 18.
    Internal Medicine Department. Hospital Italiano de Buenos Aires. Argentina (HIBA), Presidente Perón 4190, Cuidad Autónoma de Buenos Aires, C1199ABB, Argentina.
    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. Read More

    Is the Hepatic Factor a miRNA that maintains the integrity of pulmonary microvasculature by inhibiting the Vascular Endothelial Growth Factor?
    Curr Cardiol Rev 2017 May 9. Epub 2017 May 9.
    Congenital Heart Center, Helen DeVos Children's Hospital, Grand Rapids, MI . United States.
    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. Over a period of the last two decades our understanding of the pathogenesis of PAVMs has changed, but the mechanisms are still not clearly understood. Read More

    Endoscopic-guided coblation treatment of nasal telangiectasias in hereditary hemorrhagic telangiectasia: "How I do it".
    Am J Rhinol Allergy 2017 May;31(3):205-206
    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. Read More

    Pregnancy and mesenchimal dysplasias (Marfan syndrome, Ehlers-Danlos syndrome, hereditary hemorrhagic telangiectasia).
    J Matern Fetal Neonatal Med 2017 Jun 13:1-9. Epub 2017 Jun 13.
    a I.M. Sechenov First Moscow State Medical University of the Public Health Ministry of the Russian Federation , Moscow , Russia.
    The objective of this article is to attract the attention of clinical physicians to the rare but extremely relevant clinical pathology of mesenchymal dysplasias (Marfan syndrome, Ehlers-Danlos syndrome, hereditary hemorrhagic telangiectasia) and especially specific characteristics of such diseases during pregnancy. Connective tissue pathology can cover different organs and systems, symptoms of the same disease can vary in different patients thus making diagnostics significantly difficult. Here clinical diagnostic criteria and methods of molecular diagnostics of diseases are described. Read More

    Giant symptomatic aneurysm secondary to hereditary hemorrhagic telangiectasia of a main hepatic artery with aberrant origin in superior mesenteric artery.
    Ann Vasc Surg 2017 Apr 28. Epub 2017 Apr 28.
    Hospital Virgen de la Salud, Cirugía Vascular. Address: Calle Lepanto 20. Nambroca; Toledo. Spain. PC: 45190.
    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. Read More

    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 May-Jun;37(3):813-836. 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 antiangiogenic tyrosine kinase inhibitors on an animal model of hereditary hemorrhagic telangiectasia.
    J Thromb Haemost 2017 Jun 3;15(6):1095-1102. Epub 2017 May 3.
    Department of Physiology and Functional Genomics, College of Medicine, University of Florida, Gainesville, FL, USA.
    Essentials Antiangiogenic drugs are indicated as therapies for hereditary hemorrhagic telangiectasia. We interrogated the response to four antiangiogenic drugs for anemia and intestinal bleeding. Sorafenib and a pazopanib analog significantly improved while erlotinib worsened anemia. Read More

    Depression and post-traumatic stress disorder in individuals with hereditary hemorrhagic telangiectasia: A cross-sectional survey.
    Thromb Res 2017 May 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 Jun;14(6):903-911
    5 Cardiovascular Sciences, National Heart and Lung Institute, Imperial College London, London, United Kingdom.
    Rationale: PaO2 and 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 1.34 ml of oxygen when fully saturated. Read More

    Hepatic angiodynamic profile in paediatric patients with hereditary haemorrhagic telangiectasia type 1 and type 2.
    Vasa 2017 May 1;46(3):195-202. Epub 2017 Mar 1.
    3 Center for Rare Diseases, Interdepartmental Center for Hereditary Haemorrhagic Telangiectasia, C. Frugoni Internal Medicine Unit, Policlinico Hospital - University of Bari Aldo Moro, Bari, Italy.
    Background: Liver involvement is a common manifestation of hereditary haemorrhagic telangiectasia (HHT). Although a number of studies have been carried out in adult patients, no study has ever been focused on investigating HHT-related hepatic involvement in paediatric patients. The present study aimed for the first time to systematically estimate the prevalence of HHT-associated liver involvement and to characterize HHT-associated hepatic angiodynamic features in paediatric age. 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 May - Jun;38(3):354-355. 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 May 17;32(5):628-636. 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

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