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Болезнь Рандю-Ослера-Вебера или наследственная геморрагическая телеангиэктазия представляет собой редкое наследственное заболевание сосудистой системы, характеризующееся развитием множественных телеангиэктазий кожи и слизистых оболочек, а также геморрагическим синдромом различной локализации. Мы представляем клинический разбор случая развития повторных инфарктов головного мозга у молодого пациента с болезнью Рандю-Ослера-Вебера. В первой части публикации приводятся литературные данные о частоте встречаемости, этиологии, патогенезе, особенностях клинических проявлений наследственной геморрагической телеангиэктазии, современных методах диагностики и лечения. Во второй части продемонстрирован редкий случай развития повторных инфарктов головного мозга у молодого пациента с болезнью Рандю-Ослера-Вебера, причиной которых явилась парадоксальная эмболия из легочной артериовенозной мальформации, обнаруженной у пациента при проведении КТ-ангиографии сосудов легких. Представлены данные анамнеза жизни и заболевания пациента, описание объективного и неврологического статуса, результаты лабораторных и инструментальных методов обследований. Пациенту было рекомендована ангиопульмонография, в ходе которой легочная артериовенозная мальформация была успешно эмболизирована. Данный случай указывает на необходимость тщательного обследования и наблюдения за пациентами с наследственной геморрагической телеангиэктазией. В целях раннего выявления сосудистых мальформаций у пациентов с болезнью Рандю-Ослера-Вебера и своевременного назначения терапии для предотвращения возможных серьёзных цереброваскулярных осложнений рекомендовано выполнение КТ-ангиографии легких., Rendu-Osler-Weber disease is a rare inherited disease of the vasculature, characterized by the development of multiple telangiectasias of the skin and mucous membranes, as well as hemorrhagic syndrome of various localization. We present a case report of recurrent acute ischemic strokes in a young patient with Rendu-Osler-Weber disease. In the first part of the article, literature data on the incidence, etiology, pathogenesis, features of clinical manifestations of hereditary hemorrhagic telangiectasia, modern methods of diagnosis and treatment are presented. In the second part of the article, a rare case of recurrent acute ischemic strokes in a young patient with Rendu-Osler-Weber disease, caused by a paradoxical embolism due to pulmonary arteriovenous malformation was demonstrated. The chest CT detected a pulmonary arteriovenous malformation. The data of medical, including anamnesis, a description of the objective and neurological status, the results of laboratory and instrumental methods of examination are presented. The patient was recommended angiopulmonography, during which the pulmonary arteriovenous malformation was successfully embolized. This case indicates the need for targeted examination and monitoring of patients with hereditary hemorrhagic telangiectasia. For the purpose of early detection of vascular malformations in patients with Rendu-Osler-Weber disease and the timely administration of therapy to prevent possible serious cerebrovascular complications, we recommend performing the chest CT., №11(166) (2019)

Rendu-Osler-Weber disease, also known as hereditary hemorrhagic telangiectasia, is a rare autosomal dominant disorder which is often characterized by recurrent epistaxis, mucocutaneous and gastrointestinal telangiectasias, and visceral arteriovenous malformations. Patients with gastrointestinal involvement can present with a wide spectrum of severity, which may vary from uncomplicated iron deficiency anemia to continuous and refractory bleeding. We present the case of a 62-year-old female, who was admitted with anemia following several episodes of melena, and whose endoscopic examination revealed multiple angiodysplasias in the stomach and small bowel. Despite endoscopic and medical treatment attempts with hormonal agents and octreotide, she developed persistent hemorrhage and severe anemia, requiring frequent red blood cell transfusions. Immediately after initiating bevacizumab (7.5 mg/kg, every 3 weeks), complete cessation of bleeding episodes was observed. Currently, after 1 year of follow-up, she maintained sustained remission without the occurrence of adverse events. A doença de Rendu-Osler-Weber, também conhecida por telangiectasia hemorrágica hereditária, é uma doença autossómica dominante rara, frequentemente caracterizada por epistáxis recorrente, telangiectasias mucocutâneas e gastrointestinais e malformações arteriovenosas viscerais. Doentes com envolvimento gastrointestinal podem apresentar um amplo espectro de gravidade, que pode variar de anemia ferropénica não complicada até hemorragia persistente e refractária. Os autores apresentam o caso de uma mulher de 62 anos, admitida por anemia na sequência de vários episódios de melenas, cuja avaliação endoscópica revelou múltiplas angiodisplasias no estômago e intestino delgado. Apesar de várias tentativas de terapêutica endoscópica e médica com agentes hormonais e octreotido, evoluiu para hemorragia persistente e anemia grave, com necessidade de suporte transfusional frequente. Imediatamente após ter iniciado bevacizumab (7,5 mg/kg, a cada 3 semanas) ocorreu cessação total dos episódios de hemorragia. Actualmente, após um ano de follow-up, mantém remissão sustentada sem a ocorrência de quaisquer eventos adversos.

Rendu-Osler-Weber disease, also known as hereditary hemorrhagic telangiectasia, is a rare autosomal dominant disorder which is often characterized by recurrent epistaxis, mucocutaneous and gastrointestinal telangiectasias, and visceral arteriovenous malformations. Patients with gastrointestinal involvement can present with a wide spectrum of severity, which may vary from uncomplicated iron deficiency anemia to continuous and refractory bleeding. We present the case of a 62-year-old female, who was admitted with anemia following several episodes of melena, and whose endoscopic examination revealed multiple angiodysplasias in the stomach and small bowel. Despite endoscopic and medical treatment attempts with hormonal agents and octreotide, she developed persistent hemorrhage and severe anemia, requiring frequent red blood cell transfusions. Immediately after initiating bevacizumab (7.5 mg/kg, every 3 weeks), complete cessation of bleeding episodes was observed. Currently, after 1 year of follow-up, she maintained sustained remission without the occurrence of adverse events.A doença de Rendu-Osler-Weber, também conhecida por telangiectasia hemorrágica hereditária, é uma doença autossómica dominante rara, frequentemente caracterizada por epistáxis recorrente, telangiectasias mucocutâneas e gastrointestinais e malformações arteriovenosas viscerais. Doentes com envolvimento gastrointestinal podem apresentar um amplo espectro de gravidade, que pode variar de anemia ferropénica não complicada até hemorragia persistente e refractária. Os autores apresentam o caso de uma mulher de 62 anos, admitida por anemia na sequência de vários episódios de melenas, cuja avaliação endoscópica revelou múltiplas angiodisplasias no estômago e intestino delgado. Apesar de várias tentativas de terapêutica endoscópica e médica com agentes hormonais e octreotido, evoluiu para hemorragia persistente e anemia grave, com necessidade de suporte transfusional frequente. Imediatamente após ter iniciado bevacizumab (7,5 mg/kg, a cada 3 semanas) ocorreu cessação total dos episódios de hemorragia. Actualmente, após um ano de follow-up, mantém remissão sustentada sem a ocorrência de quaisquer eventos adversos.

Hereditary Haemorrhagic Telangiectasia (HHT), also known as Rendu-Osler-Weber disease (ROW), is an autosomal dominant disease with multi-systemic vascular dysplasia characterized by mucocutaneous telangiectasia, arteriovenous malformations and recurrent spontaneous epistaxis (nosebleeds). Most cases of HHT result from mutations in the ENG, ACVLR1 or SMAD4 genes. Affected individuals suffer from multi-systemic vascular lesions, known as telangiectases, characterized by focal dilation of post-capillary veins, that are susceptible to rupture and haemorrhage because of weak vessel walls and high perfusion pressures, leading to major morbidity and mortality. Telangiectasia in the nasal mucosa and gastro-intestinal tract frequently haemorrhage, leading to chronic iron deficiency anaemia which may even be transfusion-dependent. This thesis focuses on several aspects that characterizing the HHT patient to enable more research into diagnostic and treatments modalities. Life expectancy of patients is evaluated, differentiating in the underlying genetic mutation. Data show a normal life expectancy of unscreened patients with a ACVRL1 mutation and a lower life expectancy in unscreened and untreated patients with an ENG mutation. The prevalence of malignancies is analysed in an international patient cohort showing a higher prevalence of breast cancer but far lower prevalence of lung cancer, despite more severe smoking habits. The relationship between pulmonary arterial hypertension and HHT is described. This is a rare but severe complication that can arise, especially in patients with an ACVRL1 mutation. The question on how to screen children is addressed and the methodology of screening in the St. Antonius Hospital is evaluated. The use of antiplatelet and anticoagulant therapy is discussed, which is particularly relevant considering the dilemma between protection for other comorbidities, like stroke due to cardiac arrhythmias, and the amount of blood loss patients already suffer without blood thinners. The use of Thalidomide (or Softenon) is evaluated, not only in its effectivity to treat epistaxis but also the side effects patients suffer. The final chapter identifies factors influencing the severity of epistaxis in HHT patient. Numerous dietary items, including alcohol, spices and foods high in salicylates, were identified as being detrimental to the epistaxis severity. This thesis concludes that ongoing advances in medical and scientific understanding of this hereditary disease help to continuously improve patient care. Future challenges lie in several areas including genetics and their relation to the widely variable HHT phenotype, optimisation of screening, diagnostics and treatment, and improving life expectancy and quality of life of the current and future generations affected by HHT.

Hereditary Haemorrhagic Telangiectasia (HHT), also known as Rendu-Osler-Weber disease (ROW), is an autosomal dominant disease with multi-systemic vascular dysplasia characterized by mucocutaneous telangiectasia, arteriovenous malformations and recurrent spontaneous epistaxis (nosebleeds). Most cases of HHT result from mutations in the ENG, ACVLR1 or SMAD4 genes. Affected individuals suffer from multi-systemic vascular lesions, known as telangiectases, characterized by focal dilation of post-capillary veins, that are susceptible to rupture and haemorrhage because of weak vessel walls and high perfusion pressures, leading to major morbidity and mortality. Telangiectasia in the nasal mucosa and gastro-intestinal tract frequently haemorrhage, leading to chronic iron deficiency anaemia which may even be transfusion-dependent. This thesis focuses on several aspects that characterizing the HHT patient to enable more research into diagnostic and treatments modalities. Life expectancy of patients is evaluated, differentiating in the underlying genetic mutation. Data show a normal life expectancy of unscreened patients with a ACVRL1 mutation and a lower life expectancy in unscreened and untreated patients with an ENG mutation. The prevalence of malignancies is analysed in an international patient cohort showing a higher prevalence of breast cancer but far lower prevalence of lung cancer, despite more severe smoking habits. The relationship between pulmonary arterial hypertension and HHT is described. This is a rare but severe complication that can arise, especially in patients with an ACVRL1 mutation. The question on how to screen children is addressed and the methodology of screening in the St. Antonius Hospital is evaluated. The use of antiplatelet and anticoagulant therapy is discussed, which is particularly relevant considering the dilemma between protection for other comorbidities, like stroke due to cardiac arrhythmias, and the amount of blood loss patients already suffer without blood thinners. The use of Thalidomide (or Softenon) is evaluated, not only in its effectivity to treat epistaxis but also the side effects patients suffer. The final chapter identifies factors influencing the severity of epistaxis in HHT patient. Numerous dietary items, including alcohol, spices and foods high in salicylates, were identified as being detrimental to the epistaxis severity. This thesis concludes that ongoing advances in medical and scientific understanding of this hereditary disease help to continuously improve patient care. Future challenges lie in several areas including genetics and their relation to the widely variable HHT phenotype, optimisation of screening, diagnostics and treatment, and improving life expectancy and quality of life of the current and future generations affected by HHT.

Resume Introduction Les malformations arterioveineuses pulmonaire (MAVP), survenant le plus souvent lors d’une maladie de Rendu Osler (HHT), se compliquent dans 5 a 13 % des cas d’un abces cerebral. Observation Un homme âge de 51 ans, cadre superieure, ayant presente a 37 ans, un syndrome de Parinaud transitoire, cephalalgique depuis deux mois, installa brusquement un syndrome cerebelleux gauche modere sans fievre. Le scanner X puis l’IRM revelerent une lesion cerebelleuse gauche heterogene, dont le drainage ramena un abces a pyogenes multiples et permit une guerison sans sequelle. Le scanner X decela une MAVP lingulaire gauche, incompletement occluse par l’embolisation de coils. Aucun element dont l’analyse des genes ENG et ACVRL1 n’allait dans le sens d’une HHT. Une seconde embolisation a cinq mois, n’empecha pas sa repermeabilisation six mois plus tard. Discussion Il s’agit du septieme cas de MAVP complique d’un abces cerebelleux. Le mecanisme de l’abces ferait intervenir l’hypoxemie, une polycythemie secondaire ou des emboles septiques a travers le shunt droit/gauche. Conclusion Le diagnostic d’abces cerebral est facilite par la mise en œuvre de toutes les modalites de l’IRM, notamment la diffusion et la spectroscopie protonique. La recherche d’une MAVP doit etre realisee, y compris chez l’adulte, devant un abces cryptogenique pour prevenir toute recidive.

The presented case is a 66-year-old man with known hereditary hemorrhagic telangiectasia who presented with recurrent attacks of supraventricular tachycardia and dyspnoea. Cardiac catheterization revealed high cardiac output with peripheral shunting of about 50%. Three sessions of subsequent transarterial selective coil embolization were performed within 25 days after which no more AVMs were observed angiographically. The patient did not face any complications. Finally, the patient was in very good condition and reported neither tachycardia nor dyspnoea. Over a follow-up period of 12 months there were no biliary complications or recurrence of shunting observed. In summary, transarterial coil embolization of large parts of the hepatic arteries is a potent therapy to reduce the amount of arterio-venous blood shunting causing right heart failure.

Rendu-Osler-Weber disease, also known as hereditary hemorrhagic telangiectasia (HHT), is an autosomal dominant inherited disorder characterized by an aberrant vascular development. The reported prevalence is approximately 1 per 5,000-10,000. The clinical manifestations consist of recurrent spontaneous nosebleeds, telangiectasias characteristically at the lips, oral cavity, fingers, and nose, and visceral arteriovenous malformations. Timely recognition of this syndrome makes screening for complications, preventive measurements, and genetic counselling possible. The important role of the dental profession in the recognition of this genetic disease is emphasized. In addition, a brief overview of the current literature is presented.

Rendu-Osler-Weber disease is the most frequently observed genetic hemorrhagic angiopathy with local wall thinning, distention of microcirculation vessels' lumen, and incomplete local hemostasis. This pathology is inherited per autosomal-dominant type with a various pathologic gene's frequency of occurrence. As per the literature, the frequency of occurrence of this anomaly equals 1:100 000, although as of today, according to the newest studies, it is possible that the number of this nosology's events would increase up to 1:5000-8000. According to the modern ideas, Rendu-Osler-Weber disease is an example of vascular pathology (with the distress of anatomical continuity of vessels) with a congenital tendency to malformation of blood vessels (vascular dysplasia). This anomaly is characterized by the inadequacy of mesenchyme. The anatomical substrate of the disease of represented by thinning of the vessel wall with the lack of elastic and muscular layers. That's why the wall is represented by the endothelium solely, surrounded by the loose connective tissue. Because of this, arteriovenous aneurysms appear, which cause hemorrhages due to the vulnerability of vessel walls.

Objective Recurrent epistaxis is the most frequent clinical manifestation of hereditary haemorrhagic telangiectasia (HHT). Its treatment occasionally presents difficulties as there is no consensus on the appropriate therapeutic protocol. Our objective was to explore the utility of oral tranexamic acid for the treatment of epistaxes in HHT patients. Patients and method A3-year prospective study was carried on HHT patients with epistaxis treated with oral tranexamic acid in the HHT unit at our hospital. Results Ten patients with HHT were treated with oral tranexamic acid during the study. Most of them improved both the frequency and severity of their epistaxis and were satisfied with the treatment. No treatment-related complications were recorded. Two patients needed more aggressive treatments to control epistaxis. Conclusions Oral tranexamic acid is useful for achieving significant reductions in epistaxis frequency and intensity in selected patients with HHT. In those presenting severe epistaxis, however, it may need to be combined with more aggressive therapies.

The levels of the health-related quality of life (HR-QoL) were analyzed in hereditary hemorrhagic telangiectasia (HHT) patients. The Short Form-36 Health Survey (SF-36) was administered to 50 HHT patients and scores were compared to a cohort of 2301 normal subjects. Clinical variables were patient age, illness duration, number of epistaxis episodes in the previous year and hemoglobin levels. Physical functioning, physical role limitations, bodily pain, social functioning, emotional role limitations and the physical component scores were lower among females. In multivariable analyses increasing age was related to lower physical functioning (P < 0.04), physical role limitations (P < 0.008), bodily pain (P < 0.05) and emotional role limitations (P < 0.01), while higher hemoglobin levels improved physical functioning␣(€P < 0.03). The number of epistaxis episodes was negatively associated with physical role limitations (€P < 0.009), vitality (P < 0.002), social functioning (P < 0.001), physical component summary (€P < 0.001) and bodily pain (P < 0.01). Illness duration was negatively related to the mental component summary (P < 0.004). HHT patients had a lower HR-QoL with respect to normal controls in all domains except for bodily pain. Females had lower scores for several domains. Epistaxis was the most important clinical variable.

A 69-year-old female was referred to our clinic with recurrent nasal bleeding and resultant anemia (Hb 7.3 g/dl) . The patient had septal perforation as a result of frequent laser vaporization and the margins of the perforation were the sources of nasal bleeding. She had teleangiectatic lesions on her tongue, positive Rumpel-Leede test, and a brother with similar episodes of nasal bleeding, so she was diagnosed as having hereditary hemorrhagic telangiectasia (HHT or Rendu-Osler-Weber disease). To treat the septal perforation as well as recurrent nasal bleeding, the anterior aspects of the nasal septal mucosa were denuded and replaced with a facial artery musculomucosal (FAMM) flap on the left side, and with a split thick skin on the right side. She is now almost free from nasal bleeding. The FAMM flap is useful for treating patients with HHT especially with septal perforation.

Correspondence to: Dr Uichiro Fuchizaki, Keiju Medical Center, 94 Tomioka-cho, Nanao, Ishikawa 926-8605, Japan (e-mail: fuchi@p1.coralnet.or.jp) Hereditary haemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber disease, is an autosomal dominant disorder characterised by epistaxis, cutaneous telangiectasia (figure 3), and visceral arteriovenous malformations (AVMs). The characteristic lesions in this disorder are telangiectases that consist of focal dilatations of postcapillary venules and AVMs. Recurrent epistaxis often restricts daily life, as in our patient (case presentation). AVMs can cause serious complications if located in the lungs, liver, or brain. Hereditary haemorrhagic telangiectasia (Rendu-Osler-Weber disease)

A high flow pial arteriovenous fistula in a twenty-years-old girl is described. The arteriovenous communication corresponds to a single hole fistula on the right rolandic area, with a giant venous ectasia. The patient presented seizures and left hemiparesis as symptoms. The fistula was embolized with glue obtaining total occlusion of the shunt. Hypotension was induced and valsalva manoeuver was done during the glue injection to reduce the flow into the fistula, however 26 hours after the procedure the patient bled resulting in a fatal outcome. The purpose of this paper is discuss the presentation of Rendu-Osler-Weber (ROW) in children and the therapeutic guidelines.

In a previous report, we showed the efficacy of the submucous sclerosant therapy with Etoxiesclerol (Polidocanol) in two patients with Rendu-Osler-Weber disease. We confirm, in this present study, the advantages of Etoxiesclerol in the treatment of the epistaxis in the Rendu-Osler disease, in six patients, 3 males and 3 females and likewise in two patients with non-specific granuloma of nasal septum and another patient with cavernous hemangioma of soft palate.

Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterised by epistaxis, mucocutaneous telangiectasia with systemic manifestations due to visceral telangiectasia and arterio-venous malformations (AVMs). We describe unusual complications of HHT in a 68-year-old male who developed high-output cardiac failure with pulmonary hypertension in combination with hepatic encephalopathy due to hepatic AVMs. This case shows the importance of a multi-system approach to HHT and considers the treatment of its hepatic complications.

Objetivo Estudiar la prevalencia y formas de presentacion de la telangiectasia hemorragica hereditaria (THH) en la poblacion de nuestro ambito hospitalario. Material y metodos Se realizo un estudio descriptivo retrospectivo de los pacientes diagnosticados de THH entre los anos 1972 y 1999 en el Hospital La Fe de Valencia. Se valoro la presencia de antecedentes familiares, epistaxis de repeticion, telangiectasias cutaneomucosas y lesiones viscerales, asi como los tratamientos administrados y la evolucion de la enfermedad. Resultados Se diagnosticaron 17 pacientes en dicho periodo con edades comprendidas entre los 24 y los 80 anos. Ocho pacientes presentaban antecedentes familiares. Los sintomas mas frecuentes fueron la epistaxis y la anemia ferropenica, seguidas en frecuencia por las telangiectasias cutaneomucosas. Seis pacientes presentaron manifestaciones neurologicas, cinco pulmonares, cinco gastrointestinales y tres pacientes hepaticas, generalmente secundarias a malformaciones vasculares a esos niveles. Conclusiones La prevalencia de la enfermedad puede ser mas elevada de lo que habia sido descrito anteriormente. Ante pacientes con epistaxis de repeticion y/o anemias ferropenicas hay que tener en cuenta esta enfermedad y buscar la presencia de telangiectasias que puedan orientar al diagnostico. El diagnostico precoz de la THH puede ayudar al control temprano de malformaciones viscerales asociadas. El tratamiento de la THH de ser individualizado segun las manifestaciones clinicas del paciente.

Interest in the treatment of the pulmonary arteriovenous malformations (PAVMs) that occur in approximately one-third of patients with Rendu-Osler-Weber (ROW) disease (hereditary haemorrhagic telangiectasia) has recently been renewed. PAVMs can now be occluded safely by the transvenous placement of detachable balloons or metal coils, thus avoiding the many potential complications of thoracotomy. This study analyses the treatment of eight PAVMs in four ROW patients by transcatheter embolization using detachable balloons or metal coils. After embolization, the mean right-to-left shunt fraction significantly decreased from 39.1 +/- 5.1% to 11.9 +/- 1.1% (P < 0.05) and PaO2 significantly increased from 53.3 +/- 7.8 torr to 76.2 +/- 8.4 torr (P < 0.05). No serious complications occurred. One detachable balloon was deflated, but no recanalization occurred. We conclude that transcatheter embolization is a safe and efficacious treatment for PAVMs associated with ROW disease. Long-term studies are now needed to determine the risk of recanalization in this treatment.

Identified nearly a century ago, hereditary hemorrhagic telangiectasia, or Rendu–Osler–Weber syndrome, has long been viewed as a rare condition producing minor discomfort for affected persons. However, this disorder is now considered to be more common than previously thought,1–5 and the associated brain and pulmonary lesions are sources of substantial morbidity and mortality.3,6–8 Wider recognition of the condition and awareness of its sequelae can help avoid the considerable risks associated with its mismanagement. Advances in molecular genetics have demonstrated that hereditary hemorrhagic telangiectasia is actually a group of autosomal dominant disorders.9–13 The recent identification of the gene . . .

Rendu-Osler-Weber disease is a rare autosomal dominant disorder. Hepatic involvement manifests itself as vascular, parenchymal, and biliary lesions with characteristic telangiectasias and vascular shunts. In a 37-year-old female patient, dynamic contrast-enhanced upper abdominal CT and MRI were performed. CT and MRI revealed dilated celiac trunk and hepatic artery. On early arterial phase, dilated hepatic veins showed significant enhancement. On arterial and portal venous phases, liver showed significantly heterogeneous contrast enhancement and showed homogenous enhancement in the hepatic parenchymal phase. On the magnetic resonance cholangiopancreatography, irregular biliary ducts with strictures and dilatation were seen.

OBJECTIVES: Development and validation of an epistaxis-specific quality-of-life questionnaire (EQQoL) to evaluate the impact on quality of life of epistaxis, during hereditary hemorrhagic telangiectasia (HHT). STUDY DESIGN: Prospective clinical study using QoL instruments administered twice in HHT patients. PATIENTS AND METHODS: In total, 109 patients who had epistaxis and a clinical diagnosis of HHT according to Curacao criteria were included. Invoice of the questionnaire in 2004 and 2006 included SF-36, Jenkins` sleep scale and the new epistaxis-specific13-item EQQoL. RESULTS: EQQoL uptake rate was 98%, mean score 58/100 +- 27, and Cronbach alpha 0.96. EQQoL was sensitive to change with a strong correlation with the course of epistaxis. Factorial analysis showed that EQQoL was clearly distinct from SF-36 and Jenkins sleep scales. In stepwise multivariate ordinal logistic regression, frequency and duration of epistaxis were both associated with lower EQQoL. Conversely, visceral involvement and comorbidity had independent impact on SF-36 scores, but not on EQQoL. CONCLUSIONS: This new epistaxis-specific EQQoL questionnaire provides complementary information on the impact of HHT on patients quality of life relative to the SF-36 generic questionnaire. After international validation, the EQQoL might prove a useful tool for treatment evaluation.

We present a case of a Rendu-Osler-Weber disease patient with recurrent life threatening epistaxis demanding multiple blood transfusions despite of repetitive endoscopic laser and electrocoagulations, endovascular embolisation, septodermoplasty, and long-term intranasal dressings. As alternative treatment modalities repeatedly failed and the patient became almost permanently dependent on nasal dressing, we performed a highly conformal intensity-modulated radiotherapy of the nasal cavity; a total dose of 50 Gy in 2 Gy single fractions was applied. The therapy was very well tolerated, no acute toxicities occurred. Two weeks after the last radiation dose had been applied, the nasal dressing could be removed without problems. Endoscopical control revealed an almost avascular white mucosa without any trace of bleeding spots; previously existing hemangiomas and crusts had disappeared. After a 1-year-follow up, the patient had no significant recurrent epistaxis.

A 39-year-old man with chronic bleeding from Rendu-Osler-Weber disease in the small intestine was treated with argon plasma coagulation using a custom-made probe under double-balloon enteroscopy. A 10 month follow-up showed no evidence of bleeding.

A 70-year-old female patient with multiple bilateral pulmonary arteriovenous fistulas was referred to our hospital for its treatment. She had experienced frequent epistaxis and had nasopharyngeal telangiectasia. Her mother, sister and all four children also suffered from epistaxis. We diagnosed this patient as Rendu-Osler-Weber disease combined with multiple bilateral pulmonary arteriovenous fistulas. Her chest roentgenogram revealed 4 arteriovenous fistulas in the left lung and 2 arteriovenous fistulas in the right. On admission arterial blood gas analysis while breathing room air showed a PaO2 of 39.8 torr and an SaO2 of 75.4%. The percent of R-L shunt was calculated to be 56.5%. Because of severe hypoxemia, she underwent resection of four large fistulas in segments 3, 4, 5, and 8 of the left lung. Twenty-eight days after the operation, the PaO2 was 76.4 torr and SaO2 was 95.7%. There was no sign of enlargement in size of the remaining arteriovenous fistulas.

Rendu-Oslar-Weber病に伴う14歳男性の両側多発性肺動静脈瘻症例に対し, 二期的両側開胸により瘻切除術を行なった.手術前の検査成績では著明な低酸素血症を認め, 右-左シャント率は29%であった.運動に伴い動脈血酸素飽和度が低下し, 耐運動能に著しい制限を認めた.左開胸による肺動静脈瘻切除のみではシャント率は25%に低下したにとどまった.一方, 両側開胸術後には動脈血酸素分圧は上昇し, シャント率は16%にまで低下した.また運動に伴う動脈血酸素飽和度の低下は軽微で, 耐運動能に飛躍的な改善が得られた.従来より両側多発性肺動静脈瘻に対する外科療法の適応はしぼしば困難とされてきた.しかし肺組織の温存を意図した瘻切除術により血行動態に十分な改善が得られることから, 両側多発性肺動静脈瘻に対しても積極的な外科治療を行なうことが肝要であると考えられた.

Se presenta un caso de fistula arteriovenosa pulmonar (FAVP), diagnosticado en una paciente de 63 anos sin antecedentes personales, que se inicio con focalidad neurologica secundaria a abscesos polimicrobianos multiples. A raiz de este hallazgo se ha investigado a sus familiares, sospechandose la existencia de una angiomatosis sistemica (telangiectasia hereditaria hemorragica o enfermedad de Rendu-Osler-Weber), que es asintomatica en muchos de sus miembros. El seguimiento y conocimiento precoz de esta entidad son importantes en la medida en que pueden prevenirse complicaciones neurologicas graves, tratando las posibles malformaciones arteriovenosas y haciendo profilaxis antihiotica ante manipulaciones dentarias o procedimientos invasivos.

Objective To show the result of this surgical technique for the treatment of nasal bleeding in Rendu-Osler-Weber disease. Method After great efforts to obtain informed consent for the procedure, considered as a final therapeutic attempt, we present here the surgical technique used in a severe long-standing case with frequent symptoms that required a large number of admissions to our hospital and caused our patient considerable social, family and work-related psychological problems. Results The surgical procedure was performed 14 months ago, with no further epistaxis since then, thus bringing to an end the emergency admissions, rated at 7 per year, and reducing consultations at the digestive and psychological clinics. The laboratory studies (haematocrit, complete blood count, bleeding time) have improved greatly. Conclusions This is a safe technique, well tolerated by the patient, that avoids additional pathologies and reduces costs.

Caso clínico: Mujer de 45 años con episodios recurrentes de epífora hemática espontánea. La paciente presentaba epistaxis de repetición no filiadas y, tenía antecedentes familiares de hemorragia digestiva, además una de sus hijas sufría de epistaxis. Discusión: El diagnóstico de telangiectasia hemorrágica hereditaria por oftalmólogos es un hecho infrecuente. La presencia de lágrimas con sangre o epífora hemática espontánea, en un paciente con historia de hemorragias de repetición en forma de epistaxis o hemorragia digestiva, nos tiene que hacer sospechar y buscar la presencia de esta enfermedad. La historia y exploración clínica son fundamentales en el diagnóstico de dicha enfermedad. Case report: Our patient was a 45-year-old woman who had recurrent episodes of hematic epiphora, repeated epistaxes for which no cause was found and a family history of gastric hemorrhage. One of her daughters also suffered from spontaneous hemorrhages. Discussion: Hereditary hemorrhagic telangiectasia is rarely diagnosed by an ophthalmologist; however the occurrence of bloody tears occurring spontaneously in a patient with epistaxis or gastric hemorrhage should lead to suspicion of hereditary hemorrhagic telangiectasia or Rendu-Osler-Weber disease. It should never be forgotten that clinical examination and appropriate investigations are basic components of disease diagnosis.

The aim of our study was to illustrate the benefits of percutaneous treatment by embolisation of high-flow pulmonary arteriovenous malformations (PAVM) in patients suffering from hereditary haemorrhagic telangiectasia (HHT; Rendu-Osler-Weber disease).From December 2001 to February 2007, we embolised 60 PAVMS in 35 procedures performed on 30 patients, all referred by the HHT centre in Crema, and enrolled in a screening programme of HHT families. All patients underwent clinical evaluation, contrast-enhanced ultrasound (CEUS) and spiral computed tomography (CT). Embolisation was made with nonmagnetic metallic coils via femoral venous access; an endovascular Amplatzer device was used in one patient only.All embolisations were performed without difficulty. One patient only developed partial temporary aphasia, which resolved in 72 H. At spiral-CT follow-up, we generally demonstrated exclusion from circulation of treated PAVMS and regression of clinical symptoms. In the case of new lesions or recanalisation, further embolisation was possible:Percutaneous embolisation has recently become the initial treatment option in PAVM owing to its good results and minimal invasiveness compared with thoracotomy. Our experience is in agreement with the literature: the procedure has a low complication rate, provides very good technical and clinical results and avoids resection of healthy pulmonary parenchyma.