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    3448 results match your criteria Osler-Weber-Rendu Syndrome

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    Bevacizumab as a treatment for hereditary hemorrhagic telangiectasia in children: a case report.
    Colomb Med (Cali) 2017 Jun 30;48(2):88-93. Epub 2017 Jun 30.
    Grupo de Investigación en Reumatología, Autoinmunidad y Medicina Traslacional (GIRAT) Departamento de Reumatologia, Fundación Valle del Lili, Cali, Colombia.
    Case Description: Five-year-old female patient with hereditary hemorrhagic telangiectasia.

    Clinical Findings: Deterioration of cardiopulmonary function with higher oxygen requirements secondary to pulmonary arteriovenous shunts, epistaxis.

    Treatment And Outcome: The patient was treated with the monoclonal antibody bevacizumab, which inhibits the vascular endothelial growth factor, with good clinical outcome. Read More

    [Clinical and genetic diagnosis in a hereditary hemorrhagic telangiectasia family].
    Zhong Nan Da Xue Xue Bao Yi Xue Ban 2017 Sep;42(9):1017-1022
    Department of Medical Genetics, Second Xiangya Hospital, Central South University, Changsha 410011, China.
    Objective: To investigate the clinical features and feasibility genetic diagnosis in a hereditary hemorrhagic telangiectasia (HHT) family, and to explore the application of gene mutation testing in HHT diagnosis.
 Methods: Medical histories and clinical features of a family were analyzed to diagnose HHT patients and suspected individuals according to the clinical diagnostic criteria. Sequence analysis of endoglin (ENG) and activin A receptor like type 1 (ACVRL1) gene in the proband was performed with PCR and Sanger sequencing technology. Read More

    Topical propranolol improves epistaxis in patients with hereditary hemorrhagic telangiectasia - a preliminary report.
    J Otolaryngol Head Neck Surg 2017 Oct 4;46(1):58. Epub 2017 Oct 4.
    Department of Hematology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
    Background: Severe epistaxis is often difficult to control in patients with hereditary hemorrhagic telangiectasia (HHT). Propranolol has been shown to have antiangiogenic properties in vitro and in vivo and is commonly used to treat hemangiomas. We present our experience with topical nasal propranolol for the treatment of moderate to severe epistaxis in patients with HHT. Read More

    Tacrolimus rescues the signaling and gene expression signature of endothelial ALK1 loss-of-function and improves HHT vascular pathology.
    Hum Mol Genet 2017 Sep 14. Epub 2017 Sep 14.
    Litwin-Zucker Research Center for the Study of Alzheimer's Disease, The Feinstein Institute for Medical Research, Manhasset, NY, USA.
    Hereditary hemorrhagic telangiectasia (HHT) is a highly debilitating and life-threatening genetic vascular disorder arising from endothelial cell (EC) proliferation and hypervascularization, for which no cure exists. Because HHT is caused by loss-of-function mutations in BMP9-ALK1-Smad1/5/8 signaling, interventions aimed at activating this pathway are of therapeutic value. We interrogated the whole-transcriptome in human umbilical vein ECs (HUVECs) and found that ALK1 signaling inhibition was associated with a specific pro-angiogenic gene expression signature, which included a significant elevation of DLL4 expression. Read More

    Surgical Treatment vs Nonsurgical Treatment for Brain Arteriovenous Malformations in Patients with Hereditary Hemorrhagic Telangiectasia: A Retrospective Multicenter Consortium Study.
    Neurosurgery 2017 Jul 4. Epub 2017 Jul 4.
    Department of Neurological Surgery, University of California, San Francisco, San Francisco, California.
    Background: Cerebral arteriovenous malformations (AVMs) are common in patients with hereditary hemorrhagic telangiectasia (HHT). However, due to the rarity of HHT and little published evidence of outcomes from management of brain AVMs in this disease, current international HHT guidelines recommend an individualized approach. Specifically, the outcomes for surgical vs nonsurgical management of these lesions have not been reported to date. Read More

    Embolization for the treatment of intractable epistaxis: 12 month outcomes in a two centre case series.
    Br J Radiol 2017 Oct 3:20170472. Epub 2017 Oct 3.
    Neurological Intervention and Imaging Service of Western Australia (NIISWA), Perth, WA, Australia.
    Objective: Embolization is a treatment option for intractable epistaxis, however concerns regarding tissue necrosis, stroke and blindness persist in the literature.

    Methods: A retrospective review of patients from September 2010 - January 2016 treated with embolization for epistaxis was performed. No patient was excluded. Read More

    Pulmonary artery hypertension in childhood: The transforming growth factor-β superfamily-related genes.
    Pediatr Neonatol 2017 Aug 12. Epub 2017 Aug 12.
    Department of Cardiothoracic Surgery, The First Hospital of Putian, Teaching Hospital, Fujian Medical University, Putian, Fujian Province, People's Republic of China. Electronic address:
    Pulmonary artery hypertension (PAH) is very rare in childhood, and it can be divided into heritable, idiopathic drug- and toxin-induced and other disease (connective tissue disease, human immunodeficiency virus infection, portal hypertension, congenital heart disease, or schistosomiasis)-associated types. PAH could not be interpreted solely by pathophysiological theories. The impact of the transforming growth factor-β superfamily-related genes on the development of PAH in children remains to be clarified. Read More

    Deregulated TGF-β/BMP Signaling in Vascular Malformations.
    Circ Res 2017 Sep;121(8):981-999
    From the Department of Immunology, Genetics, and Pathology, Uppsala University, Sweden (S.I.C., P.U.M., E.D.); FIRC Institute of Molecular Oncology, Milan, Italy (E.D., M.G.L.); and Istituto di Ricerche Farmacologiche Mario Negri, Milan, Italy (M.G.L.).
    Correct organization of the vascular tree requires the balanced activities of several signaling pathways that regulate tubulogenesis and vascular branching, elongation, and pruning. When this balance is lost, the vessels can be malformed and fragile, and they can lose arteriovenous differentiation. In this review, we concentrate on the transforming growth factor (TGF)-β/bone morphogenetic protein (BMP) pathway, which is one of the most important and complex signaling systems in vascular development. Read More

    Angioarchitecture of Hereditary Arteriovenous Malformations.
    Semin Intervent Radiol 2017 Sep 11;34(3):250-257. Epub 2017 Sep 11.
    Department of Radiology, Medical College of Wisconsin, Children's Hospital of Wisconsin, Milwaukee, Wisconsin.
    This article describes three hereditary conditions known to be associated with arteriovenous malformation (AVM), along with their clinical and imaging features and angiographic angioarchitecture. Hereditary hemorrhagic telangiectasia, capillary malformation-AVM (CM-AVM), and PTEN tumor hamartoma syndrome are conditions with autosomal dominant inheritance, caused by mutations in different molecular pathways, which frequently present with symptomatic AVMs. Imaging biomarkers, including sites of predilection, angioarchitecture, and tissue overgrowth patterns, are helpful in identifying these patients and selecting appropriate treatment. Read More

    A case of pulmonary arteriovenous malformation: role of interventional radiology in diagnosis and treatment.
    Ann Transl Med 2017 Sep;5(17):345
    Department of Radiology, Yale New Haven Heath at Bridgeport Hospital, Bridgeport, CT, USA.
    Pulmonary arterio-venous malformations (PAVMs) are abnormal pulmonary arteries and pulmonary veins communicating directly without interposition of a capillary bed and about 80-90% of patients with PAVMs eventually may present with hereditary hemorrhagic telangiectasia (HHT), remaining ones are sporadic cases. On the other hand, about 15-35% of HHT patients may present with PAVMs. The PAVMs have a tendency to grow and increase in size over time and various factors like puberty, pregnancy and pulmonary arterial hypertension (PAH) affect growth. Read More

    Hereditary hemorrhagic telangiectasia-laser treatment of epistaxis.
    Ear Nose Throat J 2017 Sep;96(9):E10-E14
    Department of Otorhinolaryngology, Head and Neck Surgery, University Hospital Centre Zagreb, Zagreb, Croatia.
    Hereditary hemorrhagic telangiectasia (HHT) is a rare, autosomal dominant disorder characterized by recurrent epistaxis, telangiectasias, and multiorgan vascular dysplasia. Various modalities exist for the treatment of HHT-related chronic epistaxis, although no method is preferred over another. The aim of this study was to review the effectiveness of diode laser photocoagulation in the treatment of epistaxis in patients with HHT. Read More

    Antithrombotic Use Predicts Recanalization of Embolized Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia.
    Can Assoc Radiol J 2017 Sep 15. Epub 2017 Sep 15.
    Department of Radiology, St Michael's Hospital, Toronto, Ontario, Canada; Keenan Research Centre of the Li Ka Shing Knowledge Institute and St Michaels Hospital, Toronto, Ontario, Canada; Department of Medical Imaging, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.

    [A rare cause of cyanosis in childhood: Pulmonary arteriovenous malformation].
    Turk Kardiyol Dern Ars 2017 Sep;45(6):538-540
    Department of Pediatric Cardiology, Gynecologic and Pediatric Hospital, Batman, Turkey.
    Pulmonary arteriovenous malformation, which is defined as the presence of an ab-normal connection between the pulmonary artery and pulmonary vein, is rarely seen. Although it generally presents as a congenital condition, it may be accompanied by hereditary hemorrhagic telangiectasia. Clinical signs vary according to the amount of shunt in proportion to the number and size of the fistulae. Read More

    ALK1 signaling in development and disease: new paradigms.
    Cell Mol Life Sci 2017 Sep 4. Epub 2017 Sep 4.
    Department of Structural Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
    Activin A receptor like type 1 (ALK1) is a transmembrane serine/threonine receptor kinase in the transforming growth factor-beta receptor family that is expressed on endothelial cells. Defects in ALK1 signaling cause the autosomal dominant vascular disorder, hereditary hemorrhagic telangiectasia (HHT), which is characterized by development of direct connections between arteries and veins, or arteriovenous malformations (AVMs). Although previous studies have implicated ALK1 in various aspects of sprouting angiogenesis, including tip/stalk cell selection, migration, and proliferation, recent work suggests an intriguing role for ALK1 in transducing a flow-based signal that governs directed endothelial cell migration within patent, perfused vessels. Read More

    Emergency consultation for epistaxis: A bad predictor for overall health?
    Auris Nasus Larynx 2017 Aug 28. Epub 2017 Aug 28.
    Department of Otorhinolaryngology, University Hospital Zurich USZ, University of Zurich UZH, Switzerland. Electronic address:
    Objective: To compare the mortality rate of a large epistaxis cohort with the fatalities of the general Swiss population and to evaluate significant risk factors for impending early death.

    Methods: 568 patients out of an epistaxis cohort from a former study were contacted by mail to answer a questionnaire. Deceased patients were identified from March, 2007 through April, 2014. Read More

    The Lung in Hereditary Hemorrhagic Telangiectasia.
    Respiration 2017 30;94(4):315-330. Epub 2017 Aug 30.
    Service de génétique - centre de référence national pour la maladie de Rendu-Osler, Hôpital Femme-Mère-Enfants, Hospices Civils de Lyon, Bron, France.
    Hereditary hemorrhagic telangiectasia (HHT) is a dominantly inherited genetic vascular disorder with an estimated prevalence of 1 in 6,000, characterized by recurrent epistaxis, cutaneous telangiectasia, and arteriovenous malformations (AVMs) that affect many organs including the lungs, gastrointestinal tract, liver, and brain. Its diagnosis is based on the Curaçao criteria, and is considered definite if at least 3 of the 4 following criteria are fulfilled: (1) spontaneous and recurrent epistaxis, (2) telangiectasia, (3) a family history, and (4) pulmonary, liver, cerebral, spinal, or gastrointestinal AVMs. The focus of this review is on delineating how HHT affects the lung. Read More

    Gastrointestinal Manifestations of Hereditary Hemorrhagic Telangiectasia (HHT): A Systematic Review of the Literature.
    Dig Dis Sci 2017 Oct 23;62(10):2623-2630. Epub 2017 Aug 23.
    Division of Digestive Diseases, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
    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. Read More

    [Gene Analysis of A Chinese Family with Hereditary Hemorrhagic Telangiectasia and its Curative Effect of Thalidomide].
    Zhongguo Shi Yan Xue Ye Xue Za Zhi 2017 Aug;25(4):1136-1141
    Department of Hematology, The Second Xiangya Hospital of Central South University, Changsha 410011, Hunan Province, China. E-mail:
    Objective: To analyze a hereditary hemorrhagic telangiectasia(HHT) family Activin receptor-like kinase 1(ACVRL1), Endoglin (ENG) and Mothers against decapentaplegic homolog 4 (MADH4, SMAD4) gene mutation, meanwhile, to observe the curative effect of thalidomide in treatment of HHT patients.

    Methods: The clinical feature of the HHT family was analyzed, the polymerase chain reaction (PCR) combined with Sanger sequencing of ACVRL1, ENG and SMAD4 were used to investigate the proband. The suspicious mutations were further detected in the other 7 family members. Read More

    Multiple Pulmonary Arteriovenous Malformations: An Unusual Cause of Shortness of Breath and Recurrent Strokes.
    S D Med 2017 Feb;70(2):57-59
    Department of Cardiology, University of South Dakota Sanford School of Medicine.
    Objective: To discuss an uncommon case of a patient with multiple pulmonary arteriovenous malformations (PAVMs) presenting with dyspnea on exertion and recurrent strokes.

    Background: A 79-year-old woman with recent onset recurrent cerebrovascular accidents (CVAs) was referred to cardiology for evaluation of dyspnea on exertion. Clinical examination was unrevealing. Read More

    Study and therapeutic progress on spinal cord perimedullary arteriovenous fistulas.
    Biomed Rep 2017 Sep 25;7(3):214-220. Epub 2017 Jul 25.
    Department of Neurosurgery, The First Hospital of Jilin University, Changchun, Jilin 130021, P.R. China.
    Spinal cord perimedullary arteriovenous fistulas (PMAVFs) are rare and belong to type IV spinal cord arteriovenous malformations (AVMs). Little is known regarding the treatment and prognosis of spinal cord PMAVFs. In the present study the relevant literature from PubMed was reviewed, and it was found that these fistulas can occur at all ages but are more common in children. Read More

    Endoglin and alk1 as therapeutic targets for hereditary hemorrhagic telangiectasia.
    Expert Opin Ther Targets 2017 Oct 20;21(10):933-947. Epub 2017 Aug 20.
    a Centro de Investigaciones Biológicas, Consejo Superior de Investigaciones Científicas (CSIC), and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) , Madrid , Spain.
    Introduction: Hereditary Haemorrhagic Telangiectasia (HHT) is as an autosomal dominant trait characterized by frequent nose bleeds, mucocutaneous telangiectases, arteriovenous malformations (AVMs) of the lung, liver and brain, and gastrointestinal bleedings due to telangiectases. HHT is originated by mutations in genes whose encoded proteins are involved in the transforming growth factor β (TGF-β) family signalling of vascular endothelial cells. In spite of the great advances in the diagnosis as well as in the molecular, cellular and animal models of HHT, the current treatments remain just at the palliative level. Read More

    Basal Ganglia T1 Hyperintensity in Hereditary Hemorrhagic Telangiectasia.
    AJNR Am J Neuroradiol 2017 Oct 3;38(10):1929-1933. Epub 2017 Aug 3.
    From the Departments of Radiology (A.P., B.S.P., D.R.A., C.P.W., W.B.).
    Background And Purpose: The implications of basal ganglia T1 hyperintensity remain unclear in patients with hereditary hemorrhagic telangiectasia. This study was performed to assess the prevalence of this imaging finding in a large cohort of patients with hereditary hemorrhagic telangiectasia and to identify any association between this phenomenon and other disease manifestations.

    Materials And Methods: In this retrospective study, we identified all patients at our institution diagnosed with definite hereditary hemorrhagic telangiectasia from 2001 to 2017. Read More

    Pulmonary Hypertension in a Patient with Hereditary Hemorrhagic Telangiectasia.
    R I Med J (2013) 2017 Aug 1;100(8):29-31. Epub 2017 Aug 1.
    Division of Pulmonary and Critical Care Medicine, Massachusetts General Hospital, Boston, MA 02114.
    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. Read More

    Differential diagnosis of hepatopulmonary syndrome (HPS): Portopulmonary hypertension (PPH) and hereditary hemorrhagic telangiectasia (HHT).
    Bosn J Basic Med Sci 2017 Jul 31. Epub 2017 Jul 31.
    Functional and Laboratory Diagnostics Department, I. Horbachevsky Ternopil State Medical University, Ternopil, Ukraine.
    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. Read More

    Pulmonary Arteriovenous Malformations Are Associated with Silent Brain Infarcts in Hereditary Hemorrhagic Telangiectasia Patients.
    Cerebrovasc Dis 2017 27;44(3-4):179-185. Epub 2017 Jul 27.
    Department of Radiology, Mayo Clinic, Rochester, MN, USA.
    Background And Purpose: There is a high prevalence of right-to-left shunting pulmonary arteriovenous malformations (PAVMs), which are stroke risk factors, in hereditary hemorrhagic telangiectasia (HHT) patients. While the prevalence of ischemic complications in HHT patients is known, the prevalence of silent brain infarcts (SBI) remains unknown. The purpose of this study was to determine the prevalence and risk factors for SBI in HHT patients. Read More

    Pulmonary Hypertension in a Large Cohort with Hereditary Hemorrhagic Telangiectasia.
    Respiration 2017 26;94(3):242-250. Epub 2017 Jul 26.
    Department of Cardiology, St. Antonius Hospital Nieuwegein, Nieuwegein, The Netherlands.
    Background: Hereditary hemorrhagic telangiectasia (HHT) is a vascular disorder characterized by arteriovenous malformations in the brain, liver, and lungs. Pulmonary hypertension (PH) is increasingly recognized as a severe complication of HHT. However, there are no studies describing the prevalence of PH in HHT compared to HHT-negative controls. Read More

    Pulmonary Infarction: In the Beginning: The Natural History of Pulmonary Infarction.
    Chest 2017 Jul 14. Epub 2017 Jul 14.
    Division of Pulmonary, Critical Care, and Sleep Medicine, The Johns Hopkins Hospital, Baltimore, MD; MedStar Health, Baltimore, MD.
    Background: Massive pulmonary emboli can cause an abrupt onset of symptoms simultaneous with large pulmonary artery occlusions. In contrast, the temporal relationship between pulmonary vascular occlusion by smaller emboli and the development of symptoms of pulmonary infarction is unknown. We describe the time interval between embolization and the onset of clinical symptoms and signs compatible with pulmonary infarction. Read More

    Imaging of Pregnancy-related Vascular Complications.
    Radiographics 2017 Jul-Aug;37(4):1270-1289
    From the Department of Radiology, Mayo Clinic Arizona, Phoenix, Ariz (R.S.P., C.O.M.); Mallinckrodt Institute of Radiology, Washington University School of Medicine, St Louis, Mo (C.J.N., C.A.R., V.M.M., S.B.); Department of Radiology, NYU Winthrop Hospital, Mineola, NY (D.S.K.); Stony Brook University School of Medicine, Stony Brook, NY (D.S.K.); and Neuroradiology Section, Department of Radiology, Phoenix Children's Hospital, Phoenix, Ariz (P.C.).
    Pregnancy results in substantial hemodynamic and prothrombotic changes that form the foundation for downstream vascular complications, both during pregnancy and in the postpartum period. In addition, several important risk factors, including older patient age, diabetes, and smoking, can increase the risk for vascular-related pregnancy complications. Because radiologists often play an important role in evaluation of the pregnant patient, understanding the pathophysiology of vascular-related complications in pregnancy and their imaging appearances is essential for diagnostic accuracy. Read More

    Linking Brain Arteriovenous Malformations With Anorectal Hemorrhoids: A Clinical and Anatomical Review.
    Anat Rec (Hoboken) 2017 Nov 21;300(11):1973-1980. Epub 2017 Jul 21.
    Department of Biomedical Sciences, New York Institute of Technology College of Osteopathic Medicine, Old Westbury, New York.
    Patients who harbor brain arteriovenous malformations are at risk for intracranial hemorrhage. These malformations are often seen in inherited vascular diseases such as hereditary hemorrhagic telangiectasia. However, malformations within the brain also sporadically occur without a hereditary-coding component. Read More

    Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling.
    Circulation 2017 Sep 7;136(11):1037-1048. Epub 2017 Jul 7.
    From Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium (M.A., R.H., M.V.); Center for Human Genetics, Cliniques Universitaires St Luc, Université catholique de Louvain, Brussels, Belgium (N.R.); Université catholique de Louvain, Brussels, Belgium (E.P.); Department of Dermatology, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain (E.B.); Department of Dermatology, Hospital Garrahan, Buenos Aires, Argentina (M.C.); Strong Hospital, University of Rochester School of Medicine and Dentistry, Rochester, NY (M.C.); Departments of Pediatrics and Medicine, Columbia University, New York (W.C., A.B.); Department of Medical Imaging, Sainte-Justine Mother- Child University Hospital, Montreal, Canada (J.D.); Service de Dermatologie, Centre Hospitalo-Universitaire de Nice, France (J.-P.L.); Genética Molecular, Hospital Sant Joan de Déu, Barcelona, Spain (L.M.); Service de Dermatologie, Centre de Référence des Maladies rares de la peau, Hôpital Larrey, Toulouse, France (J.M.-H.); Departments of Medicine and Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia (R.E.P.); Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia (D.J.A.); Department of Neuroradiology, Lariboisière Hospital, Paris, France (A.B.); Vascular Anomalies Program, Lenox Hill Hospital, New York (F.B.); Vascular Birthmark Institute of New York, Roosevelt Hospital (F.B.); Department of Pediatrics, Medical Genetics University of Iowa Carver College of Medicine, Iowa City (H.B.); Department of Dermatology, Université de Caen Basse Normandie, CHU Caen, France (A.D.); Department of Urology, Wake Forest School of Medicine, Winston Salem, NC (D.B.); Genetics Service, Paediatric Department, University Hospital Santa Maria, Lisbon, Portugal (J.D.); Department of Dermatology, Hospital Sant Joan de Deu, Barcelona, Spain (M.A.G.-E.); Departement of Dermatology, School of Medicine, University of California, San Francisco (I.P.); Department of Genetics, University Hospital, Caen, France (M.G.); Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden (M.K.); Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, CA (A.K.H.-K., L.H.); Hopital Pellegrin Enfants, Bordeaux, France (C.L.-L.); Hôpital Sainte-Justine, Montréal, Quebec, Canada (C.M.); Department of Dermatology, Texas Children's Hospital, Houston (D.M.); Département de Pédiatrie et Génétique Médicale, CHRU Hôpital Morvan, Brest, France (P.P.); Department of Dermatology, Paul Sabatier University, Toulouse, France (C.P.); Service de Génétique Clinique, Hôpital Jeanne de Flandre, Lille, France (F.P.); Pediatric Dermatology Unit, Claude Bernard-Lyon, University and Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, France (A.P.); Centre Hospitalier Universitaire, Montpellier, France (I.Q.); Dermatolgie, Faculté de Médecine d'Alger, Algeria (A.S.); Department of Medical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia (A.T.); Service de Dermatologie, Centre Hospitalo-Universitaire Dijon-Bourgogne, France (P.V.); Department of Dermatology, Hospital Sant Joan de Deu, Barcelona, Spain (A.V.); Department of Paediatric Dermatology, Sydney Children's Hospital, School of Women's and Children's Health University of New South Wales, Sydney, Australia (O.W.); Department of Plastic and Reconstructive Surgery, University of Tokyo, Hongo, Japan (S.W.); Department of Pediatric Dermatology, University Children's Hospital Zurich, Switzerland (L.W.); Children's Hospital of New York (A.W.); University of Iowa Hospitals and Clinics, Iowa City (M.W.); Department of Pediatrics, Washington University, St. Louis, MO (M.W.); and Vascular Anomalies Center, Boston Children's Hospital, Harvard Medical School, Boston, MA (L.M.B.).
    Background: Most arteriovenous malformations (AVMs) are localized and occur sporadically. However, they also can be multifocal in autosomal-dominant disorders, such as hereditary hemorrhagic telangiectasia and capillary malformation (CM)-AVM. Previously, we identified RASA1 mutations in 50% of patients with CM-AVM. Read More

    Osteonecrosis after intranasal injection with bevacizumab in treating hereditary hemorrhagic telangiectasia: A case report.
    Laryngoscope 2017 Jul 3. Epub 2017 Jul 3.
    Department of Otorhinolaryngology, Head and Neck Surgery, Oslo University Hospital-Rikshospitalet, Oslo, Norway.
    Intranasal bevacizumab injections have been used in treating hereditary hemorrhagic telangiectasia (HHT)-related epistaxis since 2009. It is believed to be a safe and effective treatment for a selected group of HHT patients in reducing frequency and intensity of epistaxis, with few or none adverse effects. In this case report, however, we will describe a patient who developed bilateral osteonecrosis in the knees while undergoing regular intranasal submucosal bevacizumab injections. Read More

    In vivo characterization of abnormalities in small-bowel diseases using probe-based confocal laser endomicroscopy.
    Endosc Int Open 2017 Jul 23;5(7):E547-E558. Epub 2017 Jun 23.
    Department of Diagnostic Pathology I, Fujita Health University School of Medicine, Toyoake, Aichi, Japan.
    Background And Study Aims:  Probe-based confocal laser endomicroscopy (pCLE) enables real-time optical biopsy. Little is known about pCLE imaging deep inside the small bowel, therefore the aim of this study was to determine its usefulness.

    Patients And Methods:  Between April 2014 and January 2016, we performed 38 pCLE examinations during double-balloon enteroscopy with intravenous fluorescein in 37 patients with: tumors (n = 10), vascular disorders (n = 6), inflammatory diseases and drug injuries (n = 13), other disorders (n = 4), and normal findings (n = 4). Read More

    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

    WITHDRAWN: 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:
    This article has been withdrawn at the request of the author(s) and/or editor. The Publisher apologizes for any inconvenience this may cause. The full Elsevier Policy on Article Withdrawal can be found at https://www. Read More

    Combined therapy for epistaxis by hereditary hemorrhagic teleangiectasia: A 3-year follow up study on 45 patients.
    J Craniomaxillofac Surg 2017 Aug 24;45(8):1179-1182. Epub 2017 May 24.
    Department of Otorhinolaryngology, (Head: Prof. B. Schick, 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 Sep 13;52(9):1194-1197. 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

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