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Background: Hereditary haemorrhagic telangiectasia (HHT) is characterized by the presence of telangiectases and larger arteriovenous malformations in different organs. Mucocutaneous telangiectases can bleed and become an aesthetic concern, impairing quality of life (QoL). However, the best treatment approach has not been defined yet. Objective: To evaluate the efficacy and safety of dual wavelength sequential 595/1064 nm laser (DWSL) compared to 1064 nm laser (Nd:YAG) alone. Secondarily, to evaluate QoL impairment in HHT patients, and its improvement with laser therapy. Methods: A comparative randomized split-body double-blinded prospective study (DWSL vs Nd:YAG). Demographic, clinical and treatment characteristics were recorded. The severity and degree of improvement were evaluated by three blinded examiners who scored pre-treatment and post-treatment pictures on a 5-point scale. Patients fulfilled Skindex-29 and FACE-Q® tests and assessed procedure-associated pain and patient satisfaction. Results: 111 treatment areas (55 treated with DWSL and 56 with Nd:YAG) from 26 patients were analyzed. The median number of laser sessions was 2 (interquartile range [IQR] 2–4; mean 2.90 vs 2.88, respectively). The median improvement score, irrespective of location, was significantly higher for Nd:YAG compared to DWSL: 3 (IQR 2–3; mean 2.61) vs 2 (IQR 2–3; mean 2.32), p = 0.031. Both FACE-Q index and Skindex-29 test results improved significantly (p

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Introducción: la telangiectasia hemorrágica hereditaria o enfermedad de Osler-Weber-Rendu es una entidad autosómica dominante rara, con una frecuencia que oscila entre 1 por cada 5000 habitantes a 1 por cada 1331 dependiendo de la población y localización geográfica. Se caracteriza clínicamente por telangiectasias, epistaxis a repetición, lesiones viscerales vasculares como angioectasias y MAVs (malformaciones arteriovenosas). El diagnóstico se sospecha con tres de los 4 criterios de Curazao y se confirma con estudios genéticos y complementarios. El tratamiento para las angioectasias es el Argón plasma y para la MAV tratamiento médico con bevacizumab, embolización o resección quirúrgica y en última instancia trasplante hepático. El pronóstico es favorable si las complicaciones son diagnosticadas y tratadas a tiempo. Caso clínico: se presenta el caso de una paciente de 51 años de edad que se presentó con astenia y adinamia en la que se documentó telangiectasias en lengua, labios y dedos y se llegó al diagnóstico de telangiectasia hemorrágica hereditaria luego de la confirmación de malformación arteriovenosa hepática y telangiectasias gástricas. Con base en este caso clínico y la pertinente revisión de la literatura, se propone un enfoque diagnóstico y terapéutico como parte del abordaje de esta enfermedad. Conclusión: la telangiectasia hemorrágica hereditaria al ser una enfermedad rara con una alta carga de morbilidad, la cual puede llegar a ser un reto diagnóstico llegando a representar una causa de anemia severa de origen gastrointestinal.

Resumo A síndrome de Rendu-Osler-Weber, também conhecida como telangiectasia hemorrágica hereditária, é uma doença hereditária autossômica dominante. Ela é caracterizada pela presença de múltiplas malformações arteriovenosas e telangiectasias. Este artigo relata dois casos de pacientes com síndrome de Rendu-Osler-Weber que apresentaram malformações arteriovenosas pulmonares e foram submetidos a tratamento endovascular com sucesso. Uma breve revisão da literatura mostra que até 50% dos pacientes com a síndrome têm malformações arteriovenosas pulmonares e geralmente há um histórico familiar positivo nesses pacientes. Em 30% dos casos, elas são múltiplas e estão associadas a complicações mais graves da doença. A maioria dos pacientes é assintomática, mesmo na presença de malformações arteriovenosas com shunt direito-esquerdo. Quando esses shunts excedem 25% do volume total de sangue, podem surgir dispneia, cianose, baqueteamento digital e sopros extracardíacos. O tratamento endovascular oferece segurança e controle das complicações da telangiectasia hemorrágica hereditária, sendo atualmente o tratamento de escolha para essas lesões.

La telangiectasia hemorrágica hereditaria es un trastorno autosómico dominante que conduce a la formación de vasos sanguíneos displásicos en las superficies mucocutáneas, también pueden desarrollarse dentro de los órganos internos, como los pulmones, cerebro, hígado y tracto gastrointestinal. No existe tratamiento médico específico, sin embargo, estudios off label utilizan anticuerpos monoclonales como el bevacizumab para inhibir la angiogénesis. Con el objetivo de demostrar la eficacia del bevacizumab en la reducción y desaparición de las telangiectasias en los diferentes órganos, se presenta el caso de una paciente femenina de 46 años con diagnóstico de telangiectasia hemorrágica hereditaria desde diciembre del 2019, al presentar heces con estrías de sangre roja rutilante, melena y epistaxis de moderada a severa intensidad. Al examen físico se constatan múltiples telangiectasias en piel, mucosa bucal, en ambas áreas de Kiesselbach de las fosas nasales,mucosa gástrica, colon y malformaciones arteriovenosas hepáticas. Se inicia tratamiento con bevacizumab demostrándose una mejoría evidente de la epistaxis, mantenimiento de la hemoglobina sin necesidad de suplementos de hierro o transfusiones, así como disminución del número de telangiectasias en el tracto gastrointestinal superior e inferior. Las malformaciones vasculares hepáticas disminuyen en tamaño e incluso una de ellas desaparece. Existe recaída al sexto mes sin el tratamiento. Se propone tratamiento continuo a bajas dosis y seguimiento estricto de la paciente.

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La Telangiectasia Hemorrágica Hereditaria o Enfermedad de Rendu-Osler- Weber, es una entidad infradiagnosticada y el retraso diagnóstico es fre- cuente, lo que va a difi el screening y tratamiento preventivo de los pacientes y de sus familiares afectos. Presentamos el caso de una paciente que debutó con una complicación grave de la enfermedad, a pesar de lo cual el diagnóstico de la enfermedad no se realizó hasta pasados 10 años

A telangiectasia hemorrágica hereditária ou síndrome Osler-Weber-Rendu é uma doença vascular hereditária autossómica dominante, que se apresenta, geralmente, com telangiectasias mucocutâneas, epistaxe, hemorragia gastrointestinal, anemia ferripriva e malformações arteriovenosas. Os autores apresentam o caso clínico de um doente, género masculino, 78 anos, com insuficiência cardíaca descompensada, anemia ferripriva com necessidade transfusional e múltiplas telangiectasias. Nos antecedentes, destacava-se uma história de epistaxes espontâneas e recorrentes desde a juventude e episódio de hemorragia digestiva recente. Durante o internamento, apresentou epistaxe e hematoquézias, complicados com choque hipovolémico. Foi admitido o diagnóstico de síndrome de Osler-Weber-Rendu, tendo iniciado hormonoterapia. O internamento prolongou-se por complicações hemorrágicas e infeciosas, tendo o doente falecido ao 30º dia em edema agudo do pulmão. O caso apresentado corresponde a síndrome de Osler-Weber-Rendu, com critérios clínicos, apresentando uma evolução desfavorável.

El infarto isquémico cerebral representa la mayoría de los accidentes vasculares cerebrales y se caracteriza por la disminución del flujo sanguíneo cerebral que resulta en muerte celular. El síndrome de Rendu-Osler-Weber o telangiectasia hemorrágica hereditaria, HHT por sus siglas en inglés, es una enfermedad genética de tipo autosómica dominante. Se presenta con malformaciones arteriovenosas por la expresión del gen afectado sobre las células endoteliales. Este reporte describe el caso clínico de una femenina de 44 años con antecedente de cefalea crónica episódica de características migrañosas desde la juventud. Consulta por cuadro de inicio súbito caracterizado por pérdida del equilibrio, cefalea holocraneal y hemiparesia del hemicuerpo izquierdo. Además, se documenta que la paciente realizó un viaje en avión de más de 11 horas de duración, lo cual favorece la enfermedad trombótica. Se realizan distintos estudios radiológicos y se demuestra la oclusión de la arteria cerebral media derecha, la arteria cerebral anterior derecha y de la arteria cerebral posterior izquierda. Además, una resonancia magnética nuclear cardiotorácica pone en evidencia la presencia de una fístula arteriovenosa pulmonar. Se aplica tratamiento fibrinolítico con Alteplase y se realiza una embolización percutánea de la fístula. El estudio genético confirma la presencia de HHT.

Introducción: la telangiectasia hemorrágica hereditaria (THH) es una enfermedad vascular hereditaria caracterizada por epistaxis, sangrado digestivo y anemia crónica; en muchos casos hay malformaciones arteriovenosas de órganos sólidos. El diagnóstico se realiza con base en datos clínicos, hallazgos endoscópicos e imagenológicos. La detección temprana con enfoque multidisciplinario y tratamiento de las complicaciones impacta en morbimortalidad de la enfermedad. Objetivos: describir las características demográficas, clínicas y desenlaces de pacientes con diagnóstico de THH en un hospital universitario. Métodos: estudio tipo serie de casos en pacientes evaluados entre 2012 hasta el 2017. Resultados: se obtuvieron registros de 18 casos, 11 (61,1 %) hombres, con edad mediana de 56 años (rango intercuartílico [IQR]: 52-64). Los casos son provenientes de Colombia y algunos países caribeños. En todos los pacientes el diagnóstico se estableció mediante los criterios de Curazao. El número de ingresos hospitalarios tuvo una mediana de 6 días (IQR: 2,5-20,5). Los ingresos fueron en relación a sangrado en todos los casos, 61 % de los pacientes requirió transfusión de hemoderivados. En el 61 % de los pacientes se identificó compromiso en el órgano sólido mediante imágenes. Conclusiones: la THH es una enfermedad de expresión clínica variable. En nuestro estudio las manifestaciones gastrointestinales fueron las causas de ingreso más frecuentes. Se requirió con frecuencia transfusión de hemoderivados. Los pacientes requirieron múltiples estudios para identificar la extensión de la enfermedad y el compromiso de órgano sólido. El tratamiento se basó en el manejo endoscópico y médico, especialmente a base de bevacizumab y octreotida.

Background: Hereditary haemorrhagic telangiectasia (HHT) is characterized by the presence of telangiectases and larger arteriovenous malformations in different organs. Mucocutaneous telangiectases can bleed and become an aesthetic concern, impairing quality of life (QoL). However, the best treatment approach has not been defined yet., Objective: To evaluate the efficacy and safety of dual wavelength sequential 595/1064nm laser (DWSL) compared to 1064nm laser (Nd:YAG) alone. Secondarily, to evaluate QoL impairment in HHT patients, and its improvement with laser therapy., Methods: A comparative randomized split-body double-blinded prospective study (DWSL vs Nd:YAG). Demographic, clinical and treatment characteristics were recorded. The severity and degree of improvement were evaluated by three blinded examiners who scored pre-treatment and post-treatment pictures on a 5-point scale. Patients fulfilled Skindex-29 and FACE-Q® tests and assessed procedure-associated pain and patient satisfaction., Results: 111 treatment areas (55 treated with DWSL and 56 with Nd:YAG) from 26 patients were analyzed. The median number of laser sessions was 2 (interquartile range [IQR] 2-4; mean 2.90 vs 2.88, respectively). The median improvement score, irrespective of location, was significantly higher for Nd:YAG compared to DWSL: 3 (IQR 2-3; mean 2.61) vs 2 (IQR 2-3; mean 2.32), p=0.031. Both FACE-Q index and Skindex-29 test results improved significantly (p<0.001), and 92.4% patients reported a high degree of satisfaction (≥8). No severe adverse events were reported., Conclusions: DWSL and Nd:YAG laser are convenient, safe and effective treatment options for mucocutaneous telangiectases in HHT patients. However, Nd:YAG delivered better results with better tolerability. QoL was significantly improved by both treatments., (Copyright © 2023 AEDV. Publicado por Elsevier España, S.L.U. All rights reserved.)

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Haemolacria is a rare term that expresses the presence of blood cells in tears. It is commonly a benign process with diverse etiologies, from vascular diseases, trauma and neoplasms. We report the case of a 16 years old female patient who started with right hemicranial headache from moderate to severe pulsatile intensity, later bilateral epistaxis, bilateral otorrhea and hemolacria persisted for a month. Bilateral telangiectasias were found on the lower tarsal conjunctiva, tympani and on the back of the tongue, as we suspect in hereditary hemorrhagic telangiectasia. The diagnosis is clinical and based on Curaçao criteria, as definitive if the patient has 3 criteria. Management is to stop bleeding with tamponade or cauterization. Resumen La hemolacria es un término raro que expresa la presencia de células hemáticas en las lágrimas. Comúnmente es un proceso benigno que cursa con diversas etiologías, desde enfermedades vasculares, traumatismos y neoplasias. Presentamos el caso de una paciente de 16 años de edad que inició con cefalea hemicráneana derecha de moderada a severa intensidad de tipo pulsátil, posteriormente se le agregó, epistaxis bilateral, otorrea bilateral y hemolacria que persistió por un mes. En la exploración se encontraron telangiectasias bilaterales en la conjuntiva tarsal inferior, tímpanos y en el dorso de la lengua por lo que sospechamos en la Telangiectasia hemorrágica hereditaria. El diagnóstico es clínico y se basa según los criterios de Curaçao, como definitivo si la paciente presenta 3 criterios. El manejo consiste en detener la hemorragia con taponamiento o cauterización.

El síndrome de Rendu-Osler-Weber (SROW), conocido también como Telangiectasia Hemorrágica Hereditaria (THH), es un desorden vascular infrecuente. Se trata de una alteración vascular displásica multisistémica de carácter autosómico dominante, con diversas complicaciones, siendo las malformaciones arterio-venosas (MAV) responsables de la morbi-mortalidad de los pacientes cuando no son diagnosticadas ni tratadas a tiempo. Muchas veces este síndrome presenta síntomas sutiles, por lo que puede pasar desapercibida clínicamente. Presentamos un caso de una paciente femenina de 51 años, con historia de epistaxis frecuentes quien acude a nuestro hospital por presentar cefalea de fuerte intensidad, meningismo y pérdida de la consciencia. La tomografía axial computada (TAC) de cráneo identificó hemorragia sub aracnoidea (HSA) difusa. La angiografía cerebral permitió identificar aneurisma arteria comunicante anterior (AcoA) roto que fue tratado por vía endovascular, sin eventualidades. Además, se observó telangectasias mucosas nasales múltiples y fistula arterio-venosa (FAV) dural occipital izquierda. Estudios ulteriores permitieron identificar MAV pulmonares múltiples. Se confirmó el diagnóstico de SROW, con criterios de diagnóstico vigentes (criterios de Curazao). Durante los tres meses posteriores a su egreso el paciente presentó hemoptisis severa y disnea, que no pudo ser tratada a tiempo por lo que falleció.

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Hereditary hemorrhagic telangiectasia is an autosomal dominant disorder of the walls of the blood vessels that become tortuous and dilated. Clinically, patients with this disease develop recurrent bleeding, which may occur spontaneously or following minor trauma. We present the case of a 68-year-old male patient who was admitted due to an upper gastrointestinal bleeding and diagnosed with Rendu-Osler-Weber disease. After application of treatment, the patient recovered and was discharged from the hospital.

Se presenta el caso clínico de un joven de 20 años de edad, con el diagnóstico de hemoptisis moderada, quien fue ingresado en la Unidad de Cuidados Intensivos del Hospital General Docente "Dr. Juan Bruno Zayas Alfonso" de Santiago de Cuba, donde se le realizaron múltiples exámenes, cuyos resultados permitieron llegar al diagnóstico definitivo de enfermedad de Rendu-Osler-Weber o telangiectasia hemorrágica hereditaria. Luego de la aplicación de otros procederes, el paciente evolucionó satisfactoriamente y egresó de la institución

Hereditary hemorrhagic telangiectasia is a rare genetic disease, belonging to the group of congenital angiopathic purpuras. Vascular injuries characterize it, being the most frequent telangiectasia on the skin and the gastrointestinal tract mucosa, pulmonary arteriovenous fistulas and vascular malformations in the central nervous system. The most frequent clinical manifestations are hemorrhages from the upper respiratory tract. It is presented the case of a 13-year-old girl with findings of chronic liver disease, diffuse splenomegaly, pancytopenia, pulmonary arteriovenous fistulas, progressive neurological deterioration secondary to subarachnoid hemorrhage with subsequent death. A medical-scientific autopsy was carried out that revealed multiple telangiectasias in mucous membranes, Osler's cirrhosis, arteriovenous malformations in the brain polygon, intraventricular hemorrhage with subarachnoid extension, and bibasal bronchopneumonia with secondary pleuritis. [ABSTRACT FROM AUTHOR]

Haemolacria is a rare term that expresses the presence of blood cells in tears. It is commonly a benign process with diverse etiologies, from vascular diseases, trauma and neoplasms. We report the case of a 16 years old female patient who started with right hemicranial headache from moderate to severe pulsatile intensity, later bilateral epistaxis, bilateral otorrhea and hemolacria persisted for a month. Bilateral telangiectasias were found on the lower tarsal conjunctiva, tympani and on the back of the tongue, as we suspect in hereditary hemorrhagic telangiectasia. The diagnosis is clinical and based on Curaçao criteria, as definitive if the patient has 3 criteria. Management is to stop bleeding with tamponade or cauterization. [ABSTRACT FROM AUTHOR]

Los pacientes con epístaxis representan entre el 10 y 12 % de los casos atendidos en los servicios de urgencia de otorrinolaringología. Se presentan 5 pacientes atendidos en este servicio del Hospital General Docente "Enrique Cabrera", en el período comprendido entre enero de 2010 a febrero de 2011 que fueron remitidos del Servicio de Hematología de dicho centro por episodios de epístaxis espontáneos y recurrentes, con historia familiar de sangramientos nasales. Todos presentaban la enfermedad de Rendú-Osler-Weber o telangiectasia hemorrágica hereditaria. Se describe el comportamiento de los sangramientos y se expone la asociación con trastornos de la función plaquetaria en 2 de ellos. Los resultados del tratamiento y seguimiento para controlar la hemorragia nasal fueron satisfactorios en los 5 casos.Patients with epistaxis represent 10 to 12 % of cases were seen at the emergency otolaryngology services. Five patients treated in this service at the General Teaching Hospital "Enrique Cabrera" from January 2010 to February 2011 were referred from the hematology service of this hospital due to episodes of spontaneous and recurrent epistaxis and family history of nasal bleeding. All of them had Rendu-Osler-Weber disease or hereditary hemorrhagic telangiectasia. We hereby describe the behavior of bleeding and present the association with platelet function disorders in two of them. The results of treatment and monitoring to control nosebleeds were satisfactory in all 5 cases.

La telangiectasia hemorrágica hereditaria o enfermedad de Rendu-Osler-Weber es autosómica dominante, se caracteriza por la presencia de múltiples telangiectasias en piel y mucosas asociadas a malformaciones arteriovenosas de distintos órganos. Con un diagnóstico y tratamiento precoces es posible mejorar el pronóstico, tanto la calidad como la expectativa de vida del paciente. El tratamiento del enfermo debe ser individualizado y realizar despistaje para malformaciones vasculares tanto a él como a sus familiares de primer grado, ya que puede cursar sin síntomas. Se presentó el caso de un adulto del sexo masculino hospitalizado en el Servicio de Gastroenterología del Hospital Clinicoquirúrgico "Hermanos Ameijeiras" por episodios recurrentes de sangrado digestivo alto, se le realizaron estudios vasculares que demostraron las lesiones típicas de la enfermedad, se trató mediante embolización selectiva, con la que se logró buena evolución posterior.The hereditary hemorrhagic telangiectasia or Rendu-Osler-Weber is autosomal dominant, characterized by presence of multiple telangiectasias present in skin and mucosa associated with arteriovenous malformations of different organs. Prognosis although with an early diagnosis and treatment could be improve the patient's quality and expectation of life. Treatment must to be individualized and to carry out screening for vascular malformations in patient and its first degree relatives since it may be present without symptoms. This is the case of male patient admitted in Gastroenterology Service of "Hermanos Ameijeiras" Clinical Surgical Hospital due to recurrent episodes of high digestive bleeding. Vascular studies were carried out showing the typical lesions of disease. Treatment included a selective embolization achieving a subsequent good course.

El propósito de este artículo es presentar un caso clínico de una paciente, con telangiectasia hemorrágica hereditaria. El diagnóstico se basó en los criterios diagnósticos Curaçao. Esta enfermedad es autosómica dominante, edad dependiente y se caracteriza por epistaxis, telangiectasias localizadas en sitios específicos de la piel con compromiso visceral, que incluye malformaciones arteriovenosas en pulmón, sistema nervioso y telangiectasias en el tracto gastrointestinal. Presentamos, asimismo, una revisión de la bibliografía de esta patología.The purpose of this article is to describe a female patient with hereditary hemorrhagic telangiectasia. The diagnosis was based on Curaçao criteria. This illness is an autosomal dominant and age-dependent vascular disorder, caracterized by epistaxis, telangiectasias located in specific sites on the skin, and visceral involvement, including arteriovenous malformations in lung, brain and liver or telangiectasias in the gastrointestinal tract. We also present a review of the literature, including etiopathogenia and treatment aspects.

As malformações arteriovenosas pulmonares (MAVP) estão associadas a telangiectasia hemorrágica hereditária em cerca de 70% dos casos, podendo cursar com complicações neurológicas graves decorrentes do embolismo paradoxal potencial. A terapêutica das malformações é realizada no sentido de prevenir estas complicações. Descreve-se o caso clínico de uma doente com duas MAVP, no contexto de telangiectasia hemorrágica hereditária,submetida a embolização com o rolhão vascular Amplatzer. Este novo dispositivo é cada vez mais utilizado nestas situações, salientando-se algumas das suas características e vantagens em relação a outras técnicas de embolização mais frequentemente utilizadas.Pulmonary arteriovenous malformations (PAVMs) are associated to hereditary hemorrhagic telangiectasia in about 70% of the cases. PAVMs are associated to serious neurologic complications, secondary to inherent paradoxical embolisms. Treatment of the malformations is done to prevent these complications. The authors report a clinical case of a patient with two PAVMs, with hereditary hemorrhagic telangiectasia, who was treated by embolization with na Amplatzer vascular plug, a new device increasingly used in these situations. The authors emphasise some of its characteristics and advantages when compared with other embolization techniques most commonly used.

Telangiectasia hemorrágica hereditária é uma doença autossômica dominante na qual comunicações arteriovenosas afetam comumente pele, superfícies mucosas, pulmões, cérebro e trato gastrointestinal. As manifestações comuns desta doença são epistaxe, sangramento gastrointestinal, e malformações arteriovenosas cerebrais e pulmonares. Apesar de a epistaxe e o sangramento gastrointestinal poderem causar anemia, a telangiectasia hemorrágica hereditária raramente é diagnosticada com anemia grave. Neste artigo é relatado o caso de um homem de 49 anos de idade com telangiectasia hemorrágica hereditária não diagnosticada e anemia grave.Hereditary hemorrhagic telangiectasia is an autosomal dominant disease in which arteriovenous communications are typically seen in the skin, mucosal surfaces, lungs, brain and gastrointestinal tract. This disease typically presents as epistaxis, gastrointestinal bleeding and arteriovenous malformations (in the brain and lungs). Although the epistaxis and gastrointestinal bleeding can result in anemia, patients diagnosed with hereditary hemorrhagic telangiectasia rarely present severe anemia. Herein, we report the case of a 49-year-old man with severe anemia and undiagnosed hereditary hemorrhagic telangiectasia.

As malformações arteriovenosas pulmonares são raras e mais de metade dos casos surgem em associação a telangiectasia hemorrágica hereditária. Faz-se uma revisão teórica sobre a apresentação clínica, abordagem diagnóstica, terapêutica e prognóstico destas malformações vasculares. Estão associadas a morbilidade e mortalidade consideráveis, pelo que se preconiza o seu tratamento, assim como o rastreio dos familiares directos quando se identificam malformações arteriovenosas pulmonares num doente com telangiectasia hemorrágica hereditária. Ainda não existem estudos prospectivos que estabeleçam o melhor plano de estudo do doente e seus familiares. Descrevem-se dois casos clínicos de malformações arteriovenosas pulmonares no contexto familiar de telangiectasia hemorrágica hereditária. A identificação das doentes implicou o rastreio familiar que permitiu detectar malformações arteriovenosas pulmonares em dois familiares e excluir o envolvimento pulmonar em quatro familiares com a doença.Pulmonary arteriovenous malformations are a rare disorder associated to hereditary hemorrhagic telangiectasia in over 50% of the cases. Clinical presentation, diagnostic work-up, therapeutic options and prognosis are reviewed by the authors. Pulmonary arteriovenous malformations are known to have considerable morbidity and mortality, their treatmentbeing advisable as well as their screening among family members, especially if the index case is diagnosed with both pulmonary arteriovenous malformations and hereditary hemorrhagic telangiectasia. To this moment prospective studies establishing the best diagnostic work-up for the patients and their families are lacking. The authors report two pulmonary arteriovenous malformations cases in a family with hereditary hemorrhagic telangiectasia. Patient’s diagnosis led to family screening which resulted in the identification of pulmonary arteriovenous malformations in two family members and pulmonary disease exclusion in four patients previously known to have hereditary hemorrhagic telangiectasia.

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A telangiectasia hemorrágica hereditária (THH) é uma doença autossómica dominante, que se distingue em dois tipos, devidos a mutações em genes diferentes. É caracterizada por telangiectasias mucocutâneas e viscerais, envolvendo vários órgãos com malformações vasculares. O sintoma comum é a anemia. O diagnóstico clínico é baseado na presença de pelo menos três das quatro principais características clínicas: epistáxis, telangiectasias cutâneas ou mucosas, envolvimento visceral e história familiar. Dependendo das manifestações da doença e da sua gravidade, existem várias formas de tratamento que variam desde terapêutica local, a cirurgia, ou terapêutica farmacológica. Apresentamos o caso de um paciente com THH e anemia por deficiência de ferro grave, dependente de transfusões de sangue frequentes, que teve uma melhoria dramática após terapêutica com a talidomida, sem ocorrência de efeitos colaterais. Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disease and is distinguished into two types, which are due to mutations in different genes. It is characterized by mucocutaneous and visceral telangiectasia and involves several organs with vascular malformations. The common symptom is anemia. The clinical diagnosis is based on the presence of at least three of four main clinical features: epistaxis, cutaneous or mucosal telangiectases, visceral involvement and a family history. Depending on disease manifestation and it severity, there are several forms of therapy ranging from local therapy, surgery ou drug therapy. Here we describe a dramatic improvement of a patient with HHT and severe iron deficiency anemia, requiring frequent blood transfusion, successfully treated with thalidomide, without side effects.

Hereditary Hemorrhagic Telangiectasia or Rendu-Osler-Weber syndrome is a rare fibrovascular dysplasia that makes vascular walls vulnerable to trauma and ruptures, causing bleeding in the skin and mucous membranes. The syndrome is characterized by recurrent epistaxis, mucocutaneous telangiectasias, visceral arteriovenous malformations and positive family history. Epistaxis is often the first and the main manifestation. This disease is associated with arteriovenous malformations in various organs and may cause hematologic, neurologic, pulmonary, dermatological and gastrointestinal complications. Treatment is palliative and prevention of complications. In this article, we report a case of a patient with the syndrome met in the city of Ipatinga - MG. [ABSTRACT FROM AUTHOR]

The case report of a 20 years young patient is presented, with the diagnosis of moderate hemoptysis who was admitted in the Intensive Care Unit from "Dr. Juan Bruno Zayas Alfonso" Teaching General Hospital in Santiago de Cuba, where multiple tests were carried out whose results allowed to arrive to the definitive diagnosis of Rendu-Osler-Weber disease or hereditary hemorrhagic telangiectasia. After the indication of other procedures, the patient had a satisfactory clinical course and he was discharged from the institution. [ABSTRACT FROM AUTHOR]

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.

Relato de um caso de úlcera plantar por fístula arteriovenosa em paciente portador de telangiectasia hemorrágica hereditária ou doença de Rendu-Osler-Weber tratado com ácido tranexâmico. Este fármaco é utilizado para tratamento de epistaxe, referindo-se o principal achado deste artigo ao uso eficaz desse medicamento na terapia de úlceras plantares hemorrágicas. São descritos os aspectos fisiopatológicos e clínicos da doença e as propriedades antifibrinolíticas do ácido tranexâmico. Este foi bem tolerado e apresentou evidências de eficácia na utilização para controle do sangramento e cicatrização da úlcera.Case report of one patient with Hereditary Hemorrhagic Telangiectasia, also known as Rendu-Osler-Weber syndrome, treated with Tranexamic Acid for arteriovenous plantar ulcer. This drug has proved effective in controlling epistaxis, but the main point of this report is to expose the success use of this medication in the therapy of skin bleeding ulcer. The pathophysiologic and clinical features of the disease are reviewed and also the pharmacological aspects of the antifibrinolytic drugs. This drug was well tolerated by the patient and show evidence of good activity in the bleeding and healed the ulcer.

Copyright of Acta Medica Colombiana is the property of Acta Medica Colombiana and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Background: It is very important to diagnose Hereditary hemorrhagic telangiectasia (HHT) early through appropriate screening and preventive treatment of a patient and their affected family members. This study aimed to report on a case of a Chinese family with heterozygous ENG-related HHT., Methods: Gene mutations were identified by whole-exome sequencing and physical examination were conducted to reveal the clinical symptoms., Results: Physical examination revealed symptomatic anaemia, coagulation system disorder and multiple red or pink spots reflecting telangiectases on the eyelids, tongue, palate and nasal cavity. Nine other affected relatives were identified in examining his family tree, among which three family members had died due to nose bleeding and one member presented symptomatic anaemia requiring blood transfusions. A novel heterozygous variation c.1550&#95;1551dupTG (p.S518*) in ENG gene was identified., Conclusions: The patient and his daughter were confirmed to have heterozygous ENG-related HHT and the novel ENG heterozygous variant may play an important role on the severe symptoms of HHT. However, further case follow-up and functional studies should be conducted to confirm these mechanismal hypotheses., (Copyright © 2021 Elsevier España, S.L.U. All rights reserved.)

Se presenta el caso de una paciente de 52 años de edad, con antecedentes de hipertensión arterial desde hace cinco años, que acudió a consulta por presentar sangrado a nivel de la lengua en reiteradas ocasiones, desencadenados por pequeños traumatismos. Se diagnosticó telangiectasia hemorrágica hereditaria por la presencia de lesiones intrabucales y en los pulpejos de los dedos de las manos.The case of a 52 year-old patient is presented, with a history of hypertension for five years. She visited the consulting room for presenting bleeding at the tongue level in repeated occasions, caused by small traumatisms. In the physical examination telangiectasia was evidenced at the tongue level and cheeks, as well as in the fingertips of her hands.

La telangiectasia hemorrágica hereditaria es un trastorno autosómico dominante de la pared de los vasos sanguíneos que se presentan tortuosos y dilatados. Clínicamente los pacientes con esta enfermedad pueden presentar hemorragias recurrentes, las que pueden ser espontáneas o secundarias a traumatismos leves, así como anemia. En este artículo, realizamos la presentación de dos pacientes (madre e hija) quienes presentan esta enfermedad.Hereditary hemorrhagic telangiectasias is an autosomal dominant disorder of blood vessel walls that results in tortuous, dilated vessels (telangiectasias). Clinically, patients with hereditary hemorrhagic telangiectasias experience recurrent hemorrhage, which may be spontaneous or secondary to trivial trauma, and anemia. In this article we make the report of two patients (mother and her daughter).

La telangiectasia hemorrágica hereditaria o síndrome de Rendú-Osler-Weber es un trastorno vascular heredado como rasgo autosómico dominante, caracterizado por telangiectasias en piel y mucosas. Los vasos delgados y dilatados pueden sangrar espontáneamente o como resultado de traumatismos leves. Las lesiones se detectan durante los primeros años de vida, y es característico observar epistaxis recurrentes en la niñez. Hacia los 10 años de edad cerca del 50 % de los pacientes ya ha padecido alguna hemorragia gastrointestinal, pero estas no suelen ser graves hasta el cuarto decenio de la vida. En este artículo realizamos la presentación de una paciente de 56 años que acudió a consulta presentando las características típicas de esta enfermedad.The hereditary hemorrhagic telangiectasia or Rendú-Osler-Weber syndrome is a vascular disorder inherited as a dominant autosomal trait, characterized by telangiectasis in skin and mucous membranes. The thin and dilated vessels may bleed spontaneously or as result of mild traumas. The lesions are detected during the first years of life and it is usual to observe recurrent epistaxis in children. At the 10 years of age, 50 % of the patients have already suffered from some gastrointestinal hemorrhage, but they are not severe until the fourth decade of life. In this paper, a 56-year-old female patient with typical characteristics of this disease that was seen at the office is presented.

Objective: To identify the mortality directly attributed to hereditary haemorrhagic telangiectasia (HHT) in Spain, and to analyze its time trends and geographic variability., Method: Population-based deaths due to HHT were selected from the Spanish National Statistics Institute: codes 448.0 (ICD-9, 1981-1998) and I78.0 (ICD-10, 1999-2016) as the basic cause of death. Specific and age-adjusted mortality rates were calculated by sex, as well as standardized mortality ratios (SMR) by province and district, and smoothed SMR., Results: We identified 327 deaths attributed to HHT (49.5% women), with the highest mortality at 80-84 years in men (0.220 per 100,000 inhabitants) and at 75-79 years in women (0.147 per 100,000 inhabitants). Age-adjusted mortality rates did not show any significant time trend between 1981 and 2016 in Spain. The provinces of Navarra, Cantabria, Guipúzcoa, Pontevedra and Las Palmas had higher than expected mortality, as well as the regions of Monte Sur (Ciudad Real) and Ripollès (Girona)., Conclusions: This study has identified some regions with higher risk of death due to HHT in Spain. It is unknown whether these differences are associated with the distribution of types HHT1 and HHT2, and further studies will be necessary to know the determinants of this geographical variability. These findings are useful to complement the information provided by other studies and registries, and for health planning., (Copyright © 2018 SESPAS. Publicado por Elsevier España, S.L.U. All rights reserved.)

Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant inherited Rare Disease that causes a systemic anomalous vascular overgrowth. The approach and follow-up of these patients should be from multidisciplinary units. Its diagnosis is carried out according to Curaçao clinical Criteria. Telangiectasia in the nasal mucosa cause recurrent epistaxis, the main symptom of HHT and difficult to control. The three types of hepatic shunting, hepatic artery to hepatic vein, hepatic artery to portal vein or to portal vein to hepatic vein, can cause high-output heart failure, portal hypertension or porto-systemic encephalopathy, respectively. These types of vascular involvement can be established using computerised tomography. Pulmonary arteriovenous fistula should be screened for all HHT patients by contrast echocardiography. The main objective is to review the management of epistaxis, liver and lung involvement of the adult patient with HHT., (Copyright © 2018 Elsevier España, S.L.U. All rights reserved.)

Introduction: Hereditary hemorrhagic telangiectasia (HHT) is a rare disease with autosomal dominant inheritance that causes systemic vascular affectation., Material and Method: After development a multicentric Spanish national registry, called RiHHTa, main clinical manifestations and diagnostic procedures of the first patients introduced are described., Results: 141 patients were included, of which 91 (64.5%) were women. The mean age at diagnosis was 42 years. Mutations in the ACVRL1 gene predominated over the ENG gene. The initial symptom was recurrent epistaxis in 130 (92.2%) patients and in three (2.1%), brain abscess. Pulmonary arteriovenous (AV) fistula were detected in 36 (45%) of the 79 patients who underwent thoracic CT angiography. The contrast echocardiography detected very few bubbles (grade I) or none, in 36 (45%) of these 79 affected patients. In 43 (67.2%) of the 64 patients with an abdominal CT angiography, hepatic vascular malformations were detected, mostly telangiectasias, AV and arterio-portal fistula, and extrahepatic in 14 (10%) subjects. More than half of the patients were screened for the presence of brain arteriovenous malformations which was found in 3.9% of them. The upper part of the intestinal tube was the most (95%) affected region., Conclusion: The RiHHTa Registry allows improving the management of patients with HHT. An inadequate use of thoracic CT angiography and the usefulness of abdominal CT angiography has been detected in order to define subtypes of hepatic vascular involvement and detect extrahepatic vascular involvement., (Copyright © 2018 Elsevier España, S.L.U. and Sociedad Española de Medicina Interna (SEMI). All rights reserved.)

Despite their relatively low prevalence, vascular diseases of the liver represent a significant health problem in the field of liver disease. A common characteristic shared by many such diseases is their propensity to cause portal hypertension together with increased morbidity and mortality. These diseases are often diagnosed in young patients and their delayed diagnosis and/or inappropriate treatment can greatly reduce life expectancy. This article reviews the current body of evidence concerning Budd-Chiari syndrome, non-cirrhotic portal vein thrombosis, idiopathic portal hypertension, sinusoidal obstruction syndrome, hepatic vascular malformations in hereditary haemorrhagic telangiectasia, cirrhotic portal vein thrombosis and other rarer vascular diseases including arterioportal fistulas. It also includes a section on the diagnostic imaging of vascular diseases of the liver and their treatment from a haematological standpoint (study of thrombotic diathesis and anticoagulation therapy). All recommendations are based on published studies extracted from PubMed. The quality of evidence and strength of recommendations were rated in accordance with the GRADE system (Grading of Recommendations, Assessment Development and Evaluation). In the absence of sufficient evidence, recommendations were based on the opinion of the committee that produced the guide., (Copyright © 2017 Elsevier España, S.L.U., AEEH y AEG. All rights reserved.)

Hereditary hemorrhagic telangiectasia (HHT), also known by the eponym Osler-Weber-Rendu syndrome, is an autosomal dominant disorder characterised by the presence of multiple arteriovenous malformations (AVMs) affecting multiple organs. Many procedures have been used for epistaxis control in patients with this disorder. The objective of this study was to report the treatment of severe HHT-related epistaxiswith the modified Young's procedure., Materials and Methods: We describe the treatment of 4 patients with severe blood-transfusion-dependent epistaxis who underwent a modified Young's procedure in a tertiary hospital. The nasal closure was bilateral and complete in all cases. All patients were followed for 12 months or longer., Results: The procedure was well tolerated and complete cessation of bleeding was achieved in all the patients., Conclusion: Young's technique is a safe surgical procedure, well tolerated by patients with severe epistaxis and HHT., (Copyright © 2016 Elsevier España, S.L.U. and Sociedad Española de Otorrinolaringología y Cirugía de Cabeza y Cuello. All rights reserved.)

Background and Objective: Pulmonary arterial hypertension (PAH) is a rare disease that could be inherited with an autosomal dominant pattern. Mutations in BMPR2 gene are described in over 70% of cases, although other genes are involved in lesser extend in PAH. Hereditary hemorrhagic telangiectasia (HHT) is another rare autosomal dominant disease. PAH is a rare complication of HHT that occurs in less than 1% of cases. Liver cirrhosis with portal hypertension is also associated with the presence of PAHs in 1-2% of cases., Patients: We present here a patient with HHT who developed PAH shortly after showing portal hypertension., Results: Some genes (BMPR2, ACVRL1, ENG) seem to play an important role in PAH pathogenesis. We analyzed these genes, detecting mutations in BMPR2 gene (c.1021G>A (V341L), c.327G>A (p.Q109Q)), ACVRL1 (c.313+20C>A, c.1502+7A>G) and ENG (c.498G>A (Q166Q)). The patient also had 3 polymorphisms in the TRPC6 gene (c.1-361A>T, c.1-254C>G, c.1-218C>T)., Conclusions: The study of these genes will help us to identify and track individuals susceptible for developing PAH associated with other diseases., (Copyright © 2014 Elsevier España, S.L.U. All rights reserved.)

Patients with hereditary hemorrhagic telangiectasia (HHT) and pulmonary arteriovenous malformation (PAVM) face higher risk of embolic complications. It is not clear whether poor outcomes are related to PAVM severity or pulmonary symptoms. Furthermore, there is currently no available data on HHT patients in Argentina. We conducted a cross sectional study in a teaching hospital in Buenos Aires, Argentina. We describe baseline characteristics of HHT and compare the prevalence of embolic complications in patients with significant PAVM compared to patients without significant PAVM. One hundred and eight consecutive patients were included. Significant PAVM was defined as: contrast echocardiography grade 2 or greater; bilateral PAVM or feeding artery bigger than 3mm; or previous PAVM treatment. Primary composite outcome was defined as: cerebrovascular accident, cerebral abscess or peripheral embolism. 20% of participants had embolic complications, the most frequent one was stroke. Embolic complications were associated with significant PAVM and respiratory symptoms., (Copyright © 2013 SEPAR. Published by Elsevier Espana. All rights reserved.)