Cirugía de Young para el tratamiento quirúrgico de la epistaxis en telangiectasia hemorrágica hereditaria: reporte de un caso y revisión de la literatura / Young's procedure for surgical treatment of epistaxis in hereditary hemorrhagic telangiectasia: A case report and literature review

La telangiectasia hemorrágica hereditaria (THH) es una displasia vascular multisistémica, de herencia autosómica dominante, caracterizada por el desarrollo de telangiectasias mucocutáneas y malformaciones arteriovenosas viscerales. El diagnóstico se realiza mediante los criterios de Curasao publicados en el año 2000 y su manejo requiere de un equipo multidisciplinario donde el rol del otorrinolaringólogo(a) es fundamental, puesto que la epistaxis se presenta en un 90%-95% de los pacientes siendo una de las primeras manifestaciones clínicas de la enfermedad y pudiendo amenazar la vida del paciente. En la literatura se describen múltiples alternativas de tratamiento médico y quirúrgico para la epistaxis, sin existir un tratamiento definitivo para la enfermedad. A continuación, presentaremos el caso de una paciente de 56 años con THH y epistaxis recurrentes severas que, tras no responder al tratamiento médico conservador y múltiples procedimientos quirúrgicos, se realizó el cierre nasal mediante el procedimiento de Young, constituyendo el primer caso reportado en nuestro país.

Hereditary hemorrhagic telangiectasia (HHT) is a multisystemic vascular dysplasia, of autosomal dominant inheritance, characterized by the development of mucocutaneous telangiectasias and visceral arteriovenous malformations. The diagnosis is made using the Curafao criteria published in 2000 and its management requires a multidisciplinary team where the role of the ENTs is fundamental, since epistaxis occurs in 90%-95% of patients, being one of the first clinical manifestations of the disease and may threaten the life of the patient. Multiple medical and surgical treatment alternatives for epistaxis are described in the literature without a definitive treatment for the disease. Here, we present the case of a 56-year-old patient with severe recurrent HHT and epistaxis who, after not responding to the initial conservative and surgical treatments, a nasal closure was performed, using the Young's procedure, constituting the first case reported in our country.

Pulmonary arteriovenous malformations: diagnostic and treatment characteristics / Malformações arteriovenosas pulmonares: características diagnósticas e de tratamento

ABSTRACT Objective: To present a case series of pulmonary arteriovenous malformations (PAVMs), describing the main clinical findings, the number/location of pulmonary vascular abnormalities, the clinical complications, and the treatment administered. Methods: This was a retrospective observational study evaluating patients with PAVM divided into two groups: hereditary hemorrhagic telangiectasia (HHT); and idiopathic PAVM (iPAVM). Results: A total of 41 patients were selected for inclusion, but only 33 had PAVMs. After clinical evaluation, 27 and 6 were diagnosed with HHT and iPAVM, respectively. In the HHT group, the mean age was 49.6 years and 88.9% were female. In that group, 4 patients had an SpO2 of < 90% and the most common clinical finding was epistaxis. In the iPAVM group, the mean age was 48.1 years and 83.3% were female. In that group, 3 patients had an SpO2 of < 90%. Computed tomographic pulmonary angiography showed that most of the PAVMs were in the lower lobes: 56.4% in the HHT group and 85.7% in the iPAVM group. Embolization was performed in 23 patients (in both groups). At this writing, 10 patients are scheduled to undergo the procedure. One of the patients who underwent embolization was subsequently referred for pulmonary resection. Conclusions: In both of the PAVM groups, there was a predominance of women and of fistulas located in the lower lobes. Few of the patients had respiratory symptoms, and most had an SpO2 > 90%. The treatment chosen for all patients was percutaneous transcatheter embolization.

RESUMO Objetivo: Apresentar uma série de casos de malformações arteriovenosas pulmonares (MAVP) e descrever os principais achados clínicos, a quantidade e localização das MAVP, as complicações clínicas e os tratamentos realizados. Métodos: Estudo retrospectivo observacional que avaliou pacientes com MAVP divididos em dois grupos: telangiectasia hemorrágica hereditária (THH) e MAVP idiopática (MAVPi). Resultados: Foram avaliados 41 pacientes, sendo 33 pacientes portadores de MAVP. Após a avaliação clínica, 27 e 6 foram diagnosticados com THH e MAVPi, respectivamente. No grupo THH a média de idade foi de 49,6 anos e 88,9% eram do sexo feminino. Desses pacientes, 4 tinham SpO2 < 90% e o achado clínico mais frequente era epistaxe. No grupo MAVPi a média de idade foi de 48,1 anos, sendo que 83,3% eram do sexo feminino. Desses, 3 tinham SpO2 < 90%. Após a realização de angiotomografia de tórax observou-se que a maior parte das MAVP se situava nos lobos inferiores, totalizando 56,4% e 85,7% nos grupos THH e MAVPi, respectivamente. O tratamento por embolização foi realizado em 23 pacientes nos dois grupos, enquanto 10 aguardavam o procedimento até o momento da escrita deste estudo. Um paciente submetido à embolização foi encaminhado para ressecção pulmonar. Conclusões: Em ambos os grupos de pacientes com MAVP observou-se uma predominância de mulheres e de fístulas localizadas nos lobos inferiores. A maioria era assintomático respiratório com SpO2 > 90%. O tratamento de escolha para todos foi a embolização percutânea por cateter.

Telangiectasia hemorrágica hereditaria: a propósito de un caso clínico / Hereditary hemorrhagic telangiectasia: on the subject of a clinical case

La epistaxis, es un síntoma frecuente en la consulta de otorrinolaringología. Dentro de las causas posibles encontramos la telangiectasia hemorrágica hereditaria (síndrome de Rendu Osler Weber), que corresponde a un desorden autosómico dominante caracterizado por sangrados nasales y gastrointestinales asociados a malformaciones arteriovenosas sistémicas. Su manifestación más frecuente es la epistaxis, presentándose más frecuentemente en personas mayores de 40 años, sin predilección por género. Se presenta el caso de un paciente de sexo masculino de 46 años quien consulta por epistaxis a repetición y severa. Durante la hospitalización se efectúa el tratamiento convencional de la epistaxis, diagnóstico retroactivo del síndrome de Rendu Osler Weber y manejo multidisciplinario de la patología. Se realiza revisión de la literatura y discusión del manejo del paciente que cursa con esta enfermedad.

Epistaxis is a common symptom in the otorhinolaryngology consultation. Among the possible causes are hereditary hemorrhagic telangiectasia (Rendu Osler Weber syndrome), which corresponds to an autosomal dominant disorder characterized by nasal and gastrointestinal bleeding associated with systemic arteriovenous malformations. Its most frequent manifestation is epistaxis, presenting more frequently in people over 40 years of age, without gender preference. We present the case of a male patient of 46 years old who consults for recurrence and severe epistaxis. During hospitalization, conventional treatment of epistaxis, retroactive diagnosis of Rendu Osler Weber syndrome and multidisciplinary management of pathology are performed. We review the literature and discuss the management of patients with this disease.

Trasplante hepático por insuficiencia cardíaca secundaria a telangiectasia hemorrágica hereditaria o enfermedad de Rendu Osler Weber: caso clínico / Liver transplant as treatment for cardiac failure secondary to hereditary hemorrhagic telangiectasia: report of one case

Liver involvement by multiple arterio-venous shunts in hereditary hemorrhagic telangiectasia can lead to severe heart failure. Total hepatectomy with liver transplantation has emerged as a therapeutic option for severe cases where other therapies have failed. We report a 51-year-old male who underwent a liver transplant for this condition, with full cardiac recovery within the first year after receiving the allograft. Nine years after transplantation, he remains with normal functional capacity and normal liver function tests.

Síndrome Rendu Osler Weber asociado a Espondilodiscitis por Staphylococcus aureus / Osler Weber Rendu syndrome associated with Staphylococcus aureus Spondylodiscitis

ResumenLa telangiectasia hemorrágica hereditaria o síndrome de Rendu-Osler-Weber, es un desorden autonómico dominante, debido a mutaciones del gen de la endoglina o del gen de la cinasa análoga al receptor de activina. Dicha enfermedad se caracteriza por la presencia de telangiectasias en piel y mucosas, epistaxis recurrente y espontánea, además de malformaciones arteriovenosas en pulmones, cerebro y sistema gastrointestinal. Se ha reportado la asociación entre esta entidad e infecciones en diferentes sitios por Staphylococcus aureus. Los mecanismos de dicha predisposición incluyen la presencia de fístulas arteriovenosas y disfunción polimorfonuclear. Se reporta el caso de una paciente portadora de la enfermedad que asoció osteomielitis vertebral; requirió tratamiento antibiótico prolongado y cirugía de fusión e instrumentación de la columna vertebral a nivel torácico. Es necesario considerar este tipo de infecciones en pacientes con tal enfermedad, lo cual puede ayudar a la escogencia del tratamiento antibiótico y del manejo del paciente más expedito.

AbstractHereditary Hemorrhagic Telangiectasia or Osler-Weber-Rendu syndrome is a dominant autonomic disorder caused by mutations of the endoglin gene or the kinase gene similar to the activin receptor. This disease is characterized by the presence of telangiectasia on skin and mucous, recurrent and spontaneous epistaxis, as well as arteriovenous malformations in lungs, brain and gastrointestinal system. The association between this disease and infections in several places of the body with Staphylococcus aureushas been reported. The mechanisms of this predisposition include the presence of arteriovenous fistulas and polymorphonuclear dysfunction. A case is reported about a patient carrying the disease associated with vertebral osteomyelitis, who required a prolonged antibiotic treatment and instrumentation of the vertebral column at thoracic level. It is necessary to consider this type of infections in patients with this disease, which may help when choosing the antibiotic treatment and a more expeditious patient management.

Manejo odontológico da Síndrome de Rendu-Osler-Weber: relato de caso / Dental management of Rendu-Osler-Weber Syndrome: case report

A Telangiectasia Hemorrágica Hereditária (THH) ou Síndrome de Rendu-Osler-Weber (SROW) é uma displasia fibrovascular sistêmica que apresenta alterações na camada muscular da parede dos vasos sanguíneos. Isto faz com que os vasos sejam sujeitos a rupturas frequentes.Este diagnóstico pode ficar a cargo do cirurgião dentista visto que os primeiros sinais podem ser observados em boca. Podem ser identificados telangiectasias e hemorragias na mucosa bucal.Por segurança, o manejo odontológico deste paciente deve ser focado na sua condição de saúde geral. Assim, este artigo tem por objetivo a descrição de um caso clínico de tratamento odontológico de uma paciente com SROW, esclarecendo as principais características dessa síndrome e relatando as peculiaridades do seu manejo.

The Rendu-Osler-Weber Syndrome or Hereditary Hemorrhagic Telangiectasia (HHT) is a rare systemic fibrovascular dysplasia, which causes a defect in the elastic and muscle layer of the blood vessel wall, turning them more vulnerable to traumas and spontaneous ruptures. The dentists can play an important role in this diagnostic because the first signs often appear in the mouth, such as telangiectasia and recurrent bleeding in the oral mucosa. The management of this patient should be appropriate to its systemic profile to ensure the safety and effectiveness of dental treatment. This work aims to describe the main characteristics of this syndrome, its peculiarities and limitations of management during dental treatment, followed by the presentation of a clinical case.

Abcesso cerebral num doente com Rendu-Osler-Weber / Cerebral abscess in a patient with Rendu-Osler-Weber

A telangiectasia hemorrágica hereditária é uma doença familiar rara, descrita pela primeira vez no final do século 19, caracterizada por telangiectasias mucocutâneas e viscerais, e por malformações arteriovenosas. Manifestações neurológicas ocorrem em 8 a 12% dos doentes e resultam em mais de metade dos casos de malformações arteriovenosas pulmonares. A telangiectasia hemorrágica hereditária é uma das causas mais frequentes de abcessos cerebrais recorrentes, múltiplos e bilaterais, tendendo estes a ocorrerem na 3a para a 5a década. Apresentamos o caso de uma mulher de 88 anos admitida por prostração, febre e insuficiência respiratória, com a suspeita de metastização pulmonar de neoplasia oculta, cuja investigação revelou, entretanto, um abcesso cerebral secundário a malformações arteriovenosas pulmonares. Apesar da antibioterapia e da drenagem cirúrgica do abcesso, a paciente veio a falecer. O prognóstico após drenagem dos abcessos sem ressecção das lesões pulmonares é desfavorável, podendo sua elevada mortalidade refletir um atraso diagnóstico pela falta de reconhecimento dessa associação.

Hereditary hemorrhagic telangiectasia is a rare familial disorder, first described in the late 19th century characterized by multiple mucocutaneous and visceral telangiectases and arteriovenous malformations. Neurologic manifestations occur in 8 to 12% of patients and result from pulmonary arteriovenous malformations in 50% of cases. Hereditary hemorrhagic telangiectasia is one of the most frequent causes of recurrent, multiple and bilateral cerebral abscess and these tend to occur in the 3rd to 5th decade. We present the case of an 88-year-old woman admitted for prostration, fever and respiratory failure who was thought to have pulmonary metastasis of an unknown tumor but investigation revealed a brain abscess secondary to pulmonary arteriovenous malformations. Despite antibiotics and surgical drainage the patient died. The prognosis of brain abscess drainage without resection of the pulmonary lesions is not favorable. The high mortality of brain abscess in these patients may reflect a delay in diagnosis due to lack of recognition of this association.

Case for diagnosis

The Osler-Weber-Rendu syndrome or Hereditary Hemorrhagic Telangiectasia (HHT) is a systemic fibrovascular dysplasia characterized by defects in the elastic and vascular walls of blood vessels, making them varicose and prone to disruptions. Lesions occur in different organs and can lead to hemorrhage in the lungs, digestive tract and brain. We describe the case of a patient with cutaneous manifestations and severe impairment of the digestive tract. It is important for the dermatologist to recognize this syndrome, since the cutaneous lesions may play a key role in diagnosis.

Syndrome in Question

Rendu-Osler-Weber Syndrome also known as Hereditary Hemorrhagic Telangiectasia is a rare systemic fibrovascular dysplasia, with dominant autosomal inheritance. It is characterized by recurrent epistaxis, mucocutaneous telangiectasia, visceral arteriovenous malformation and positive family history. There may be hematologic, neurologic, dermatologic and gastrointestinal complications. Therapy is supportive and aimed at preventing complications. In this article we report a case of Rendu-Osler-Weber in a 64 year-old man, with history of mucocutaneous telangiectasia since the third decade of life, recurrent epistaxis, positive family history and vascular ectasia in the gastrointestinal tract.

Telangiectasia hemorrágica hereditaria: aspectos otorrinolaringologías / Hereditary hemorrhagic telangiectasia: ENT aspects

La telangiectasia hemorrágica hereditaria es una displasia vascular multisistémica caracterizada por el desarrollo de telangiectasias mucocutáneas y malformaciones arteriovenosas viscerales. Una de sus manifestaciones clínicas más frecuentes es la epistaxis recurrente, que se presenta en más del 90% de los pacientes, por lo que el otorrinolarin-gólogo debiera estar familiarizado con el diagnóstico y manejo de esta patología. Debido al carácter genético de la enfermedad, el manejo del sangrado nasal en estos pacientes es difícil. Existen diversas alternativas terapéuticas, farmacológicas y quirúrgicas, descritas para disminuir el número y gravedad de los episodios de epistaxis.

Hereditary hemorrhagic telangiectasia is a multisystemic vascular dysplasia, characterized by the development of mucocutaneoustelangiectasias and visceral arteriovenous malformations. One of its most frequent clinical manifestations is recurrent epistaxis, presenting in up to 90%% of these patients, so the otorhinolaryngologist should be familiarized with its diagnosis and management. Due to the genetic character of this disease, the management of nasal bleeding in these patients is difficult. There are several therapeutic alternatives, both pharmacological and surgical, described to decrease the number and severity of the episodes of epistaxis.

Malformaciones arteriovenosas pulmonares: aproximación a una patología poco frecuente a partir de tres casos clínicos / Pulmonary arteriovenous malformations an approach to a rare condition based on three clinical cases

Las malformaciones arteriovenosas pulmonares (MAVP), son verdaderas fístulas vasculares de alto flujo y baja presión carentes de filtro capilar pulmonar. Consisten en la unión de una arteria a una vena mediante unsaco aneurismático. Se trata de una patología muy poco frecuente y con una alta asociación con la enfermedad telangiectasica hereditaria. A continuación se realiza un análisis de tres casos con diferentes formas clínicas de presentación.Se destaca la gran importancia de la angio tomografía como métodode diagnóstico así como la alta eficacia de la arteriografía con embolizacion para su resolución.

Osler-Weber-Rendu disease presenting with hepatocellular carcinoma: radiologic and genetic findings / 대한간학회지

This is a case report of a 68-year-old man with hepatocellular carcinoma (HCC) accompanied by hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu disease, and hepatic vascular malformation. HHT is an autosomal dominant disorder of the fibrovascular tissue that is characterized by recurrent epistaxis, mucocutaneous telangiectasias, and visceral arteriovenous malformations. HHT is caused by mutation of the genes involved in the signaling pathway of transforming growth factor-beta, which plays an important role in the formation of vascular endothelia1. Hepatic involvement has been reported as occurring in 30-73% of patients with HHT. However, symptomatic liver involvement is quite rare, and the representative clinical presentations of HHT in hepatic involvement are high-output heart failure, portal hypertension, nodular regenerative hyperplasia, and symptoms of biliary ischemia. Some cases of HCC in association with HHT have been reported, but are very rare. We present herein the characteristic radiologic and genetic findings of HHT that was diagnosed during the evaluation and treatment of HCC.

Tratamiento quirúrgico de fístula arteriovenosa pulmonar en telangectasia hemorrágica hereditaria (enfermedad de Rendu Osler Weber) / Pulmonary arteriovenous fistula in hereditary hemorrhagic telangiectasia: report of one case

Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) is an autosomal dominant vascular disease that can be associated with pulmonary arteriovenous fistulas. We report a 16 years old female with an Osler-Weber-Rendu syndrome and a history of frequent episodes of epistaxis since the age of 10 years. A Chest CAT sean performed on that occasion showed an arteriovenous fistula. The patient presented with progressive dyspnea, low arterial oxygen saturation and clubbing of fingers. An echocardiogram and lung perfusion scintigram confirmed the presence a right to left shunt. The patient was subjected to a lobectomy with a good postoperative evolution.

Las Fístulas Arteriovenosas Pulmonares (FAVP son malformaciones vasculares infrecuentes. La Telangectasia Hemorrágica Hereditaria o Enfermedad de Rendu-Osler-Weber (EROW) es una enfermedad hereditaria autosómica dominante que se asocia con frecuencia a dichas malformaciones vasculares pulmonares. Presentamos el caso de una mujer de 16 años con EROW y una FAVP única, sintomática y que comprometía extensamente el lóbulo medio, en quien realizamos tratamiento con cirugía resectiva pulmonar (lobectomía media) y que evolucionó satisfactoriamente con desaparición de la sintomatología.

Síndrome de Rendu-Osler-Weber en paciente adulto: reporte de un caso y revisión de la literatura / Rendu-Osler-Weber syndrome in adult patient: a case report and literature review

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.

Uso del factor VII activado recombinante en pacientes no hemofílicos en Cuba / Use of the recombinant activated factor VII in non-hemophilic patients in Cuba

El factor VII activado recombinante (rFVIIa, NovoSeven®) ha sido utilizado en el tratamiento de los sangramientos en los pacientes hemofílicos con inhibidores. También ha sido usado para el tratamiento de los sangramientos no controlados asociados con trauma o cirugía. Se describe el tratamiento con rFVIIa en 7 pacientes no hemofílicos con un amplio rango de eventos hemorrágicos: 3 a quienes se les realizó trasplante hepático y presentaron sangramiento postrasplante sin respuesta al tratamiento convencional; 1 con aplasia medular severa y hemorragia retiniana; 1 con enfermedad de Rendú-Osler-Weber, quien tuvo un sangramiento gastrointestinal severo; y 1 paciente con manifestaciones hemorrágicas cutáneas y pulmonares debido a una enfermedad viral. La dosis de rFVIIa utilizada fue entre 90_100 µg/kg de peso, tanto para el tratamiento profiláctico como terapéutico. El rFVII activado alcanzó una hemostasia efectiva en todos los casos. Consideramos que el FVII activado puede ser aplicado cuando la combinación de los hemoderivados y los avances quirúrgicos han fallado en el control de los sangramientos que ponen en peligro la vida.

The recombinant activated factor VII (rFVIIa, NovoSeven®) has been used in the treatment of bleedings in hemophilic patients with inhibitors. It has also been used for treating uncontrolled bleedings associated with trauma or surgery. The treatment with rFVIIa in 7 non-hemophilic patients with a wide range of hemorrhagic events is described: 3 that underwent liver transplant and presented posttransplant without response to the conventional treatment; 1 with severe medullary aplasia and retinal hemorrhage; 1 with Rendú-Osler-Weber's disease that had severe gastrointestinal bleeding; and 1 patient with cutaneous and pulmonary hemorrhagic manifestations due to a viral disease. The dose of rFVIIa used was between 90 and 100 µg/kg of weight, both for the prophylactic and therapeutic treatment. The activated rFVII reached an effective hemostasis in all cases. We consider that the activated FVII may be applied when the combination of hemoderivatives and the surgical advances have failed in the control of bleedings endangering life.

Absceso intramedular en paciente con enfermedad de Rendu-Osler-Weber / Spinal abscess in a patient with hereditary hemorrhagic telangiectasia

La enfermedad de Rendu-Osler-Weber es una enfermedad autosómica dominante que se manifiesta por telangiectasias en piel y mucosas y malformaciones arteriovenosas en diversos órganos. El compromiso neurológico puede ocurrir por la presencia de malformaciones arterio-venosas cerebrales, hemorragia intracraneal, y más habitualmente por accidentes cerebrovasculares isquémicos y abscesos cerebrales secundarios a embolia paradojal, en pacientes con malformaciones arteriovenosas pulmonares. El absceso intramedular es una entidad rara, inusual como complicación de la enfermedad de Rendu-Osler-Weber. Presentamos el caso de una mujer de 56 años de edad, con antecedentes familiares de enfermedad de Rendu-Osler- Weber, que ingresó a Terapia Intensiva con cuadriplejia aguda e hipoxemia, en quien se diagnosticó fístulas arteriovenosas pulmonares y un absceso intramedular cervical.

Rendu-Osler-Weber syndrome is an autosomal dominant disorder characterized by multiple skin and mucosal telangiectasis and multiorgan arteriovenous malformations. Neurological manifestations may occur because of cerebral arteriovenous malformations, intracranial hemorrhage, and most commonly by ischemic stroke and brain abscess secondary to paradoxical embolization in patients with pulmonary arteriovenous malformations. Intramedullary abscess is a rare, unusual condition, in Rendu-Osler-Weber syndrome. We report the case of a 56 years old woman, with a familial history of Rendu-Osler-Weber syndrome, admitted to intensive care with acute quadriplegia and hypoxemia. Our diagnosis was pulmonary arteriovenous malformations and intramedullary abscess.