الملخص
Se describe el caso clínico de una paciente de 84 años que tuvo epistaxis recidivante por padecer enfermedad de Rendu-Osler-Weber. Tuvo antecedentes de diversos tratamientos quirúrgicos que incluyeron el cierre de la fosa nasal izquierda (operación de Young). Por la persistencia de epistaxis izquierda se indicó una angiografía y embolización. Esta última no se hizo porque se diagnosticaron anastomosis entre el sistema carotídeo externo y el interno. Se realizó un abordaje intraoral paramaxilar asistido con endoscopios para cauterizar la arteria maxilar interna en la fosa infratemporal y un abordaje externo para cauterizar la arteria etmoidal anterior solucionando la epistaxis. (AU)
The clinical case of an 84-year-old patient who had recurrent epistaxis due to Rendu-Osler- Weber disease is described. She had a history of various surgical treatments including closure of the left nostril (Young's operation).Due to the persistence of left epistaxis, angiography and embolization were indicated. The latter was not done because anastomosis between the external and internal carotid system was diagnosed. An intraoral paramaxillary approach assisted with endoscopes was performed to cauterize the internal maxillary artery in the infratemporal fossa and an external approach to cauterize the anterior ethmoidal artery solving the epistaxis. (AU)
الموضوعات
Humans , Female , Aged, 80 and over , Telangiectasia, Hereditary Hemorrhagic/surgery , Cautery , Maxillary Artery/surgery , Telangiectasia, Hereditary Hemorrhagic/therapy , Epistaxis/therapyالملخص
Introducción: la telangiectasia hemorrágica hereditaria (THH) o Rendu Osler Weber es una enfermedad genética que produce falta de soporte elástico en el endotelio vascular, lo cual genera sangrado ante el mínimo trauma producido. Aunque la morbilidad y mortalidad en esta patología resultan de las malformaciones vasculares presentes en pulmón, hígado y cerebro, la calidad de vida se altera significativamente debido a los episodios recurrentes de epistaxis. Objetivos: El objetivo del presente trabajo es determinar el porcentaje de pacientes con diagnóstico de THH que requirieron uno o más tratamientos quirúrgicos para el sangrado nasal y realizar una revisión bibliográfica de las técnicas quirúrgicas utilizadas...
Introduction: HHT is a genetic disease that causes lack of elastic support in the vascular endothelium, which causes bleeding at the slightest trauma occurred. The quality of life is significantly altered due to recurrent episodes of epistaxis. The aim of this study is to determine the percentage of patients diagnosed with HHT, requiring one or more surgical procedures for treatment of epistaxis, and perform a literature review of surgical techniques used. Methods: The medical records of patients with Osler Rendu disease requiring surgical treatment for epistaxis, who consulted the service of Otolaryngology of the Hospital Italiano de Buenos Aires were analyzed...
Introdução: o THH é uma doença genética que provoca falta de suporte elástico no endotélio vascular, que provoca o sangramento ao menor trauma ocorreu. A qualidade de vida é significativamente alterada devido a episódios recorrentes de epistaxe. O objetivo deste estudo é determinar a porcentagem de pacientes diagnosticados com HHT, exigindo um ou mais procedimentos cirúrgicos para o tratamento de epistaxe, e realizar uma revisão da literatura sobre técnicas cirúrgicas utilizadas...
الموضوعات
Male , Female , Humans , Adolescent , Adult , Young Adult , Middle Aged , Aged , Aged, 80 and over , Epistaxis/complications , Epistaxis/therapy , Telangiectasia, Hereditary Hemorrhagic/therapy , Cautery , Laser Coagulation , Reoperation , Skin Transplantation , Therapeutic Occlusionالملخص
Uma mulher de 73 anos foi admitida ao Pronto-Socorro com insuficiência cardíaca predominantemente direita e anemia. Após avaliação clínica e imagenológica, um diagnóstico de hipertensão pulmonar (HP) associado com telangiectasia hemorrágica hereditária (THH) foi confirmado. A resposta inicial à terapia com bosentan mais sildenafil foi boa, incluindo melhora na Classe Funcional e redução do edema, permitindo que ela recebesse alta hospitalar. Infelizmente, a paciente faleceu devido à sua condição básica, antes que o efeito do tratamento combinado pudesse ser completamente avaliado. A HP deve ser considerada em pacientes com THH e o screening para HP deve ser conduzido nesses pacientes e em seus familiares.
A 73-year-old woman was admitted to the emergency room with predominantly right-sided heart failure and anemia. Following clinical and imagiological evaluation, a diagnosis of pulmonary hypertension (PH) associated with Hereditary Hemorrhagic Telangiectasia (HHT) was confirmed. The initial response to bosentan plus sildenafil was good, including improvement in functional class and reduction of edema, allowing her to be discharged. Unfortunately, the patient died, due to her underlying condition, before the effects of the combination treatment could be fully assessed. PH should be considered in patients with HTT and screening for pulmonary hypertension should be performed in these patients and their relatives.
الموضوعات
Aged , Female , Humans , Hypertension, Pulmonary/complications , Telangiectasia, Hereditary Hemorrhagic/etiology , Antihypertensive Agents/therapeutic use , Fatal Outcome , Hypertension, Pulmonary/therapy , Sulfonamides/therapeutic use , Telangiectasia, Hereditary Hemorrhagic/therapyالملخص
El síndrome de Rendu-Osler-Weber es un trastorno hereditario de los vasos sanguíneos, con gran variedad de manifestaciones clínicas que predisponen a fenómenos hemorrágicos (epistaxis, hemorragia digestiva) asociados a telangiectasias en piel y mucosas, acompañados generalmente de anemia ferropriva secundaria. Dichas manifestaciones generalmente subestiman la presencia de otras malformaciones arteriovenosas en órganos como pulmón y cerebro, cuyas complicaciones pueden determinar un riesgo vital para el paciente. La sospecha dada por alguno de los eventos descritos, sumado a la presencia de antecedentes familiares con la misma patología, obligan a realizar la búsqueda activa de malformaciones arteriovenosas en órganos potencialmente afectados para evaluar la posibilidad de un eventual tratamiento, el cual ante cualquier tipo de manifestación, y según avala la literatura, sigue siendo sintomático.
Osler-Weber-Rendu syndrome is an inherited disorder of the vessels, with a great variety of clinical manifestations that predispose to hemorrhage (epistaxis, gastrointestinal bleeding) associated to telangiectasis in skin and mucoses, usually with secondary ferropenic anemia. Those manifestations generally underestimate the presence of other arteriovenous malformations in organs like lungs and brain, where complications are of vital risk for the patient. The suspect given by any of the events described previously, added to the presence of family medical history for the same disorder, make necessary an active search of arteriovenous malformations in potentially affected organs to evaluate the possibility of an eventual treatment, which is for any type of manifestation and according to the literature, still symptomatic.
الموضوعات
Humans , Female , Middle Aged , Telangiectasia, Hereditary Hemorrhagic/diagnosis , Telangiectasia, Hereditary Hemorrhagic/therapy , Hepatic Artery/abnormalities , Pulmonary Artery/abnormalities , Cerebral Arteries/abnormalities , Epistaxis/etiology , Arteriovenous Malformations/etiology , Telangiectasia, Hereditary Hemorrhagic/complicationsالملخص
Hereditary hemorrhagic telangiectasia (HHT) of Rendu-Osler-Weber disease is a multi system vascular dysplasia characterized by the presence of multiple telangiectasias, mainly affecting mucosal tissue and arterial-venous connections. It commonly affects lungs, liver and central nervous system. Bleeding is the most common symptom and its treatment can be surgical or pharmacological. We herein review the systemic therapy that attempts to minimize bleeding as well as blood transfusion therapy. Blood therapy and fibrinolytic treatment especially aminocaproic acid and tranexamic acid are discussed. Danazol, hormone therapy and other less common drugs used in the treatment of HHT are also reviewed.
الموضوعات
Humans , Telangiectasia, Hereditary Hemorrhagic/therapy , Antifibrinolytic Agents/therapeutic use , Blood Transfusion , Hormones/therapeutic use , Tranexamic Acid/therapeutic useالملخص
A telangiectasia Hemorrágica Hereditária ou Síndrome de Rendu-Osler-Weber é uma rara displasia fibrovascular que torna a parede vascular vulnerável a traumatismos e rupturas, provocando sangramentos em pele e mucosas. Apresenta herança autossômica dominante. É caracterizada por epistaxes de repetição, telangiectasias mucocutâneas, malformações arteriovenosas viscerais e história familiar positiva. A epistaxe costuma ser a primeira e a principal manifestação. Está associada a malformações arteriovenosas em vários órgãos. São possíveis complicações hematológicas, neurológicas, pulmonares, dermatológicas e de trato gastrointestinal. A terapia é de suporte e de prevenção de complicações. Neste estudo, relata-se um caso de um paciente com a síndrome, atendido no Ambulatório de Otorrinolaringologia da Faculdade de Medicina de Marília, e faz-se uma revisão bibliográfica de sua etiopatogenia, manifestações clínicas e terapêutica clínico-cirúrgica.
Hereditary Hemorrhagic Telangiectasia or Rendu-Osler-Weber Disease is a rare fibrovascular dysplasia that makes vascular walls vulnerable to trauma and rupture, causing skin and mucosa bleeding. It is of dominant autosomal inheritance, characterized by recurrent epistaxis and telangiectasia on the face, hands and oral cavity; visceral arteriovenous malformations and positive family history. Epistaxis is often the first and foremost manifestation. It's associated to arteriovenous malformations in several organs. There are possible hematologic, neurologic, pulmonary, dermatologic and gastrointestinal complications. Treatment is supportive and helps prevent complications. This study is a case report of a patient with this syndrome who came to the ENT Outpatient Ward of the Faculdade de Medicina de Marília; and we have done a bibliographic review of the disease's etiopathogenesis, clinical manifestations and clinical-surgical treatment options.
الموضوعات
Humans , Male , Middle Aged , Aminocaproates/therapeutic use , Epistaxis/prevention & control , Telangiectasia, Hereditary Hemorrhagic , Blood Transfusion , Embolization, Therapeutic , Hemostasis, Endoscopic , Telangiectasia, Hereditary Hemorrhagic/diagnosis , Telangiectasia, Hereditary Hemorrhagic/therapyالملخص
La enfermedad de Rendu-Osler-Weber es una angiopatia neoformativa de telangiectasias circunscriptas que al romperse, determinan sindromes hemorrágicos locales; tales malformaciones vasculares a nivel pulmonar son fuente de abscesos cerebrales. El objetivo de este trabajo es presentar un caso de absceso cerebral asociado a la enfermedad de Rendu-Osler-Weber tratado en nuestro servicio, hacer un análisis de la fisiopatología-terapéutica y realizar na actualización bibliográfica de la enfermedad y sus complicaciones.
الموضوعات
Humans , Male , Middle Aged , Brain Abscess , Telangiectasia, Hereditary Hemorrhagic/complications , Telangiectasia, Hereditary Hemorrhagic/physiopathology , Telangiectasia, Hereditary Hemorrhagic/therapyالملخص
Objetivo: La enfermedad de Rendú Osler Weber o Telangiectasia Hemorrágica Hereditaria (THH) es una entidad poco frecuente que se presenta en un 5 al 15 por ciento con malformaciones arteriovenosas pulmonares. Nuestro objetivo es mostrar las distintas características de éste raro hallazgo pulmonar en los estudios por imágenes, lo que ayuda a la conducta terapéutica y a establecer su importancia con respecto a otras entidades. Material y métodos: Se presentan 9 casos de pacientes con malformaciones arteriovenosas pulmonares (PAVM) con diagnóstico confirmado de THH. Se los estudió con Rx de tórax, TC con y sin contraste y con reconstrucción y angiografía. Se realizó embolización en 8 casos. El grupo estaba compuesto por 4 mujeres y 5 hombres, miembros de 6 grupos familiares. Sus edades oscilaban entre los 15 y 80 años (promedio de 47 años). Resultados: Se identificaron PAVM en 9 pacientes con TC durante el período comprendido entre enero de 1996 y julio del 2001. En cuatro oportunidades las PAVM fueron unilaterales y en cinco bilaterales. Las lesiones se localizaron: 3 en lóbulo medio, 6 en lóbulo inferior derecho, 2 en el inferior izquierdo, 4 en lóbulo superior izquierdo, 3 de los cuales en la língula. Se tomaron las medidas del diámetro de las arterias aferentes que fueron entre 4 y 9 mm. Conclusión: Ante la presencia radiológica de malformaciones arteriovenosas pulmonares, se plantean una serie de diagnósticos diferenciales, dentro de los cuales el 60 por ciento corresponden a THH. Sin embargo, la mayoría de las veces se arriba al diagnóstico a través de screening en pacientes con altas probabilidades. En nuestros casos fue de gran utilidad la TC, permitiendo definir la arquitectura de la malformación y el tamaño de la arteria aferente, hallazgos que determinan la conducta terapéutica, debido a que las mayores a 3 mm requieren tratamiento disminuyendo el riesgo de las embolias cerebrales
الموضوعات
Humans , Male , Female , Adolescent , Adult , Middle Aged , Arteriovenous Malformations , Embolization, Therapeutic , Lung/pathology , Telangiectasia, Hereditary Hemorrhagic/diagnosis , Angiography , Arteriovenous Malformations , Lung , Telangiectasia, Hereditary Hemorrhagic/physiopathology , Telangiectasia, Hereditary Hemorrhagic , Telangiectasia, Hereditary Hemorrhagic/therapy , Tomography, X-Ray Computedالملخص
A telangiectasia hemorrágica hereditária (doença de Rendu-Osler-Weber) é uma displasia fibrovascular sistêmica, de herança autossômica dominante, caracterizada pela tríade clássica: telangiectasias, epistaxes recorrentes e história familiar. Malformações arteriovenosas, aneurismas e telangiectasias podem ocorrer distribuídas pela vasculatura corporal apresentando degeneração da célula endotelial, defeitos nas junções endoteliais e fraqueza do tecido conjuntivo perivascular. É de prognóstico essencialmente benigno, embora complicações hepáticas, gastrointestinais, pulmonares, cardíacas e neurológicas possam ocorrer. A epistaxe é a forma mais comum de sangramento (80% dos afetados); e, geralmente, o primeiro evento hemorrágico. O diagnóstico exige história e exame físico minucioso, exames hematológicos, endoscopias, angiografias, raio X de tórax e fluoroscopia. A terapia é de suporte, com suplementação de ferro e transfusões sangüíneas, mas tratamentos hormonal e cirúrgico têm propiciado resultados relativos no controle dos distúrbios hemorrágicos. O diagnóstico da doença e a relação dos orgãos acometidos são importantes na prevenção e no tratamento adequado das complicações, assim como para orientação genética. Apresentamos 9 casos da doença e as considerações quanto a seu quadro clínico, fazendo uma revisão atualizada de sua fisiopatologia, manifestações clínicas e terapêutica clínico-cirúrgica.
Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease) is a systemic autosomal dominant fibrovascular dysplasia, characterized by classical trio: telangiectasias, recurrent epistaxis and family history. Arteriovenous malformations, aneurisms and telangiectasias can occur over all the body vessels system which will show, then, endothelial cells degeneration, defective endothelial junctions and weakness of the connective tissue. Its prognostic is essencialy benign, but hepatic, gastrointestinal, pulmonary, cardiac and neurological complications may happen. Epistaxis is the most common bleeding (80% of the affected) and generally it is the first hemorrhagic event o the disease. The diagnosis includes history, physical examination, hematologic tests, endoscopy, angiography, chest X ray and fluoroscopy. Theraphy is supportive, offering iron supplement and blood transfusions, but hormonal and surgical treatment have obtained substancial results in bleeding control. Its diagnostic, referring to the organs involved, is important for the prevention and adequate treatment of the complications, as well as for genetic orientation. We present 9 cases and considerations about their clinical symptoms, making a revision of the current physiopathology, clinical manifestations, clinical and surgical treatment.
الموضوعات
Telangiectasia, Hereditary Hemorrhagic/therapy , Telangiectasis/diagnosis , Epistaxisالملخص
We report on the clinical presentation of a Saudi Arab with hereditary hemorrhagic telangiectasia [Osler-Rendu-Weber syndrome]. The gastric, ileocecal and pharyngeal telangiectases, that are prominent in this patient, were occasionally sites of serious episodes of bleeding. The lung lesions are multiple, small and discrete telangiectases but are clinically considered non-significant since the patient did not suffer from hemoptysis. The liver and brain are apparently not affected. A recent blood investigation of the patient revealed normal hematological parameters. The pedigree record of the patient's family showed that 61 out of 156 individuals in 6 generations are affected with the disease. Hereditary hemorrhagic telangiectasia follows an autosomal dominant mode of inheritance with high penetrance and variable expression. Generally, the gastrointestinal, brain and pulmonary lesions associated with the disease are sources of substantial morbidity and can lead to mortality in severe, cases. The investigational history and the recommended strategy for symptomatic treatment are presented
الموضوعات
Humans , Male , Telangiectasia, Hereditary Hemorrhagic/therapy , Telangiectasia, Hereditary Hemorrhagic/physiopathologyالملخص
Se presenta un caso clínico de telangiectasia hemorrágica hereditaria (enfermedad de Rendu-Osler-Weber), que presenta problema de sangrado en la porción media lateral del paladar duro, con antecedentes de sangrado en dos ocasiones, por lo que se resolvió con un estricto control de dieta hiposódica, observándose remisión total en un año
الموضوعات
Humans , Female , Aged , Angiomatosis/diagnosis , Palate/pathology , Telangiectasia, Hereditary Hemorrhagic/therapy , Vitamin K/therapeutic useالملخص
Se estudian 10 casos con sangrado de tubo digestivo alto (S.T.D.A.) que fueron internados en el Servicio de Urgencias de Medicina Interna del Hospital Nacional Homeopatico, Mexico; diagnosticandose la lesiones mediante endoscopia y en los que se emplearon exclusivamente medicamentos homeopaticos, habiendose cohibido el sangrado (hematemesis y/o melena) en un tiempo promedio de 72 horas empleando como maximo 5 dias para negativizar la sangre oculta en heces fecales en ocho pacientes. Los dos casos restantes en que no desaparecio totalmente la sangre oculta fue uno con diagnostico de Telangiectasia hereditariay otro con probable Carcinoma gastrico. No se presento ningun nuevo sangrado en el periodo de hospitalizacion y la evolucion fue sin complicaciones. Se concluyeque la Tereapeutica Homeopatica muestra sus grandes beneficios y es de gran uti lidad en S.T.D.A. a nivel de Servicios de Urgencia