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A 72-year-old female patient presented with increasing dyspnea of unclear origin classified as New York Heart Association stage III (NYHA III). Using transesophageal echocardiography a patent foramen ovale (PFO) and right heart failure could be diagnosed. Right heart catheterization revealed a large left to right shunt due to an arteriovenous malformation in the liver. Because of additional telangiectasia of the lips the presumptive diagnosis was Rendu-Osler-Weber disease. Typical nosebleeds and other symptoms of the disease were lacking and only two out of four Curaçao criteria were positive; therefore, genetic testing was performed, which verified the clinical diagnosis. Off-label use of the angiogenesis inhibitor bevacizumab was initiated as the therapeutic strategy and led to an improvement in the symptomatic dyspnea.

Osler's disease, also known as hereditary hemorrhagic telangiectasia (HHT) and Osler-Weber-Rendu syndrome, is an autosomal dominant disorder leading to abnormal blood vessel formation in the skin, mucous membranes and often in organs, such as the lungs, liver and brain (arteriovenous malformations AVM). Various types are known. Patients may present with epistaxis. Teleangiectasia can be identified by visual inspection during physical examination of the skin or oral cavity or by endoscopy. Diagnosis is made after clinical examination and genetic testing based on the Curacao criteria. Modern imaging modalities, such as computed tomography (CT) or magnetic resonance imaging (MRI) have become more important as they can depict the AVMs. Pulmonary AVMs can be depicted in CT imaging even without the use of a contrast agent while other locations including the central nervous system (CNS) usually require administration of contrast agents. Knowledge of possible clinical manifestations in various organs, possible complications and typical radiological presentation is mandatory to enable adequate therapy of these patients. Interventional procedures are becoming increasingly more important in the treatment of HHT patients.

Diagnosis and treatment of rare diseases are difficult. Hereditary hemorrhagic telangiectasia (HHT, Rendu-Osler-Weber disorder) is a relatively common rare disease. Because epistaxis is the most frequent manifestation of this disease, affected individuals often approach otorhinolaryngologists first. The latter ones often have a key position for early diagnosis and screening for visceral involvement which can prevent life-threatening complications. Treatment of epistaxis can improve quality of life of affected persons. Diagnosis and treatment of rare diseases can be complex and it can be very helpful to use information resources to ensure a correct management. Various possibilities to access these resources are presented in general and in relation to HHT., (© Georg Thieme Verlag KG Stuttgart · New York.)

Background: In hereditary haemorrhagic teleangiectasia (HHT) can be accompanied by pulmonary arteriovenous vascular malformations (PAVM). Pulmonary hypertension (PH) is regarded as a rare pulmonary manifestation., Methods and Patients: We non-invasively assessed the pulmonary circulation in 20 patients with HHT using standard resting echocardiography including contrast studies. In 14 patients a mutation in the endoglin gene was present. The other 6 patients carried a mutation in the Alk-1 gene., Results: We identified 4 patients with manifest PH, among them 2 patients (both with endoglin mutations) with concurrent thromboembolism, and 2 patients (both with Alk-1 mutations) with hepatic manifestations of HHT. Two patients required specific pulmonary vasoactive therapy with sildenafil and bosentan, respectively. Another patient received embolisation therapy for hypercirculatory PH due to hepatic arteriovenous malformations. Pulmonary arteriovenous malformations were found in 8 patients (7 with endoglin, and 1 with Alk-1 mutations), among them were 2 patients with PH., Conclusions: Patients with HHT should undergo echocardiographic screening for PAVM as well as PH. When PH is detected, other conditions such as hepatic or thromboembolic diseases should be considered, regardless of the underlying genetic defect.

We report the case of a 35-year-old woman who has been admitted to our emergency room because of the sudden onset of a left-sided hemiparesis. The physical examination showed disseminated teleangiectases on the upper and lower lip, on the mucosal surface of the tongue and on the skin. The cerebral CT scan presented a right-sided fronto-parietal lesion, more likely an abscess, confirmed on surgical removal. A meticulous family history showed the presence of similar clinical features among several family members, raising the certainty about the presence of the Rendu-Osler-Weber disease. This case is highly instructive in emphasizing the value of taking a careful medical history and how doing it is extremely important in our daily practice.

History: 10 years ago a now 49-year-old woman with Render-Osler-Weber disease showed unspecific symptoms of nausea, and general unwellness. Pulmonary manifestation of the disease was accompanied by pulmonary hypertension., Investigation: Teleangiectasia of the tongue and pharynx as well as of the mucosa of mouth and nose were observed. Fixed-splitting of the second heart sound with accentuated pulmonary component and a 2/6 systolic murmur over the tricuspid valve were heard. In addition, a murmur was heard dorsal over the right lung's lower lobe. Apart from minor oedema of both ankles, the physical status was not remarkable. Echocardiography showed dilatation of the right ventricle and a minor regurgitation of the tricuspid valve. The computed tomography showed dilatation of the pulmonary arteries as well as an arteriovenous malformation in the right lower lobe. Right-heart catheterisation revealed elevated pulmonary pressure. THERAPY AND FOLLOW-UP: Initial treatment with a calcium channel blocker proved insufficient and was changed to inhalative, and later to oral prostanoids. Under this treatment the cardiopulmonary state was stabilised, but episodes of epistaxis were increased. Two years after readjustment of the medication to a dual endothelin receptor antagonist, the cardiopulmonary state remains stable without significant haemorrhagic complications., Conclusion: Prostanoid treatment in patients with Render-Osler-Weber disease and additional pulmonary hypertension can lead to an increased risk of haemorrhagic complications. Treatment with newer medications, such as endothelin receptor antagonists, seems indicated as successfully illustrated in our case.

Hereditary hemorrhagic teleangiectasia (HHT or Rendu-Osler-Weber Syndrome) is an inherited autosomal dominant disorder of the vascular connective tissue. The resulting vascular malformations can occur in virtually any organ. Nosebleeds can massively impact on the quality of life of those afflicted. However, visceral manifestations are likely to be more serious, and may be comparable with a "ticking time bomb". Most commonly affected are the vascular systems of the lungs, liver, brain and gastrointestinal tract. Screening is recommended--at least with regard to the lungs. Difficult constellations of this complex condition may be successfully managed by an interdisciplinary approach.

Background and Objective: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant fibrovascular dysplasia with the main symptom of recurrent epistaxis. At present, only limited data are available on long-term results in the treatment of epistaxis. A part from the surgical treatment of the bleeding telangiectasia with argon plasma, an additional postoperative long-term treatment with estriol nose-ointment was performed and the results were analysed., Patients and Methods: 69 patients with HHT were treated with APC and estriol nose ointment. 43 patients could be examined over a follow-up period of more than 20 months. The bleeding frequency and intensity as well as the patient's satisfaction with the treatment result were evaluated and the serum estriol level determined., Results: After more than 20 months, the bleeding frequency and intensity were reduced in 95% of the patients compared to their preoperative findings. Under the influence of estriol, former berry-like telangiectasias became flatter and more even. Neither systemic side effects under topically applied estriol nor a relevant increase of serum estriol levels were observed., Conclusion: The combined treatment regimen with APC and topically applied estriol provides a new treatment concept of epistaxis in HHT.

Background: Hereditary hemorrhagic telangiectasia (HHT or Rendu-Osler-Weber disease) is an autosomal dominant inherited disease of the fibrovascular tissue. More than 90% of patients have recurrent nosebleeds. Therefore, ENT physicians often have a key position for diagnosis and management of the disease. Epistaxis can severely reduce the quality of life, but visceral lesions are also life threatening., Methods: This paper provides a review of the literature about the disease, its diagnosis, preventive measures, and therapy of the different manifestations., Results and Conclusions: Physicians should be especially aware of gastrointestinal telangiectases, arteriovenous malformations (AVM) of the lungs, liver, and brain. A screening is recommended at least for pulmonary AVM.

Aim: Evaluation of technical success, complications and long-term results of transcatheter coil embolisation in pulmonary arteriovenous malformations (pAVMs)., Material and Methods: Transcatheter embolisations of 46 pAVMs in 14 patients were analysed retrospectively, and, 5 years after treatment, the patients were interviewed by telephone concerning persistent symptoms and complications. Main symptoms before embolisation were dyspnoe (86%), hypoxaemia (100%), cerebral ischemia (21%), and hemoptysis (14%); 11 patients (79%) suffered from hereditary hemorrhagic telangiectasia., Results: Embolisation with an average of 3.9 coils (min. 1, max. 19 coils) per pAVM yielded technical success in all cases. Only two minor complications, transitory pleuritis and a small lung infarction were observed. On follow up examination after 5 years either no residual complaints or substantial improvement of dyspnoe were reported; no patient suffered from neurologic or hemorrhagic complications after the embolisation., Conclusion: Transcatheter embolisation is a safe and minimally invasive therapy for pAVMs and has rightfully replaced surgical resection as the therapy of choice.

M. Osler (Hereditary Hemorrhagic Telangiectasia, HHT) is an autosomal dominant inherited disease, with various vascular malformations. The genetic cause of this disease lies in different defects of transmembrane proteins (endoglin, activin receptor like-kinase 1) that can be defined as components of the receptor complex for transforming growth factor beta (TGF beta). Vascular malformations include the gastrointestinal tract and especially the liver. The location of mutations encoding hepatic involvement of M. Osler still remains unknown. These vascular malformations may lead to different shunts in the liver and can result to different complications like cardiac-insufficiency, portal hypertension and hepatic encephalopathy in adulthood. Color Doppler sonography is the method of choice for screening patients with M. Osler--suspected of having hepatic involvement. As in rare events conservative treatment of complications of hepatic involvement fail, embolization of the hepatic artery as minimal invasive therapy, surgical ligation of the A. hepatica and liver transplantation are possible treatment options. As there are only limited experiences with these therapeutic procedures patients with liver involvement should be treated at a center, where all therapy options are available.

Hereditary hemorrhagic teleangiectasia, or Rendu-Osler-Weber syndrome, is an autosomal dominant inherited disease characterized by vascular derangement in many organs. The vascular derangement includes teleangiectases, arteriovenous fistulas and aneurysms. Liver involvement in hereditary hemorrhagic teleangiectasia is a rare and sometimes severe disease which was unknown and mostly detected at autopsy until a few decades ago. Typical findings are vascular malformations and connective tissue formation with fibrosis and atypical cirrhosis. In the last years we observed five Osler patients with exclusive or prevailing involvement of the liver. An unambiguous diagnosis can be ascertained by means of a hazardous liver puncture with typical histological findings. Angiography allows a reliable identification of even minor vascular deformities. The present study was undertaken to demonstrate the courses of disease, the techniques of examination and the therapeutical options of this rare manifestation of Osler-disease. In every case one could observe hepatic malformations which were established as typical Osler findings with the assistance of histological and above all sonographical/color-Doppler-sonographical devices. These special sonographic/color-Doppler-sonographic features make it possible to give up the histological diagnostics or exhaustive investigations by means of angiography, computer-tomography or MRI.

We report the history of a 77-year-old man with Osler-Weber-Rendu disease (hereditary hemorrhagic telangiectasia) who suffered from recurrent epistaxis and chronic bleeding anemia for many years. Hereditary hemorrhagic telangiectasia is a rare congenital disease, that is characterized by telangiectases of the nasal and oral mucosa, the gastrointestinal tract and the skin. Arteriovenous malformations of the lung and the brain may be present. The genetic and pathologic features, the clinical manifestations and the differential diagnosis are shortly presented. The management is not validated by controlled studies and is mainly based on clinical experience. It involves supportive therapy with iron supplementation and erythrocyte transfusions, if needed, for chronic bleeding anemia, aminocaproic acid, tranexamic acid or oestrogen-progesterone therapy to prevent mucosal bleeding, cauterisation, photocoagulation, transcatheter embolotherapy or surgery to treat the vascular abnormalities.

We report about multiple cutaneous telangiectases occurring over 3 generations. The pattern of inheritance, the morphology of the lesions, and the absence of hemorrhagic episodes are consistent with an unusual variant of primary telangiectasia described as hereditary benign telangiectasia. Differential diagnosis and pathogenesis of this rare type of telangiectasia is discussed. The lesions have been treated with the flashlamp-pumped pulsed dye laser. The lesions were completely removed by two treatments. Six months later, the patient had no recurrence of the telangiectases. Without producing scars or permanent pigmentary changes a very good cosmetic result has been achieved and stigmatisation and psychic burden of this patient has been relieved.

Patients with hereditary hemorrhagic telangiectasia (M. Osler-Rendu-Weber disease) often suffer from recurrent epistaxis that poses considerable therapeutic problems. Dermoplasty, electrocoagulation, laser coagulation, iridium brachytherapy and systemic administration of estrogens have been proposed for treatment. Until recently argon plasma coagulation (APC) was not used in ENT surgery, but theoretical considerations render APC a promising therapeutic method for controlling nasal bleeding. Coagulation of tissue is limited to 1-2 mm of penetration and therefore risk of damage to adjacent tissue is low. Effects are best in tissues with high electric conductivity, especially for coagulating bleeding lesions and blood vessels. We have now treated four patients with telangiectasias in the nasal mucosa who had long histories of treatment for epistaxis. The patients were satisfied with the postoperative results and the frequency and intensity of bleeding were significantly reduced. Initial clinical experiences show that APC is a useful alternative for the treatment of bleeding telangiectasias in the nasal mucosa.

Rendu-Osler-Weber disease is an autosomally dominant inherited disease which affects the connective tissue of blood vessels. The major symptom is recurrent epistaxis for which still exists no generally recommended treatment. Treatment modalities discussed in the literature include bilateral closure of the nostrils, brachytherapy, vessel embolization, hormone therapy, dermoplasties, as well as different kinds of laser therapies. Advantages and disadvantages of single treatment modalities are discussed. Dermoplasty and laser therapy seem to be the most suitable treatment procedures currently available for recurrent epistaxis in affected patients. Treatment carried out with the argon, KTP or ND:YAG laser has proven to be suitable as initial therapy. In most cases the additional use of long-term applications of a soft nasal ointment allows a lasting successful treatment. Our experiences show that dermoplasty should be reserved for cases with continued bleeding despite laser treatment but only rarely offers a long-term cure in the sense of a total recovery from epistaxis.

Hereditary hemorrhagic teleangiectasia (HHT) (Osler-Weber-Rendu-disease) is characterized by a combination of muccocutaneous vascular malformations with recurrent spontaneous bleeding and a familiar predisposition. Among visceral manifestations of this disease are only a few descriptions of hepatic involvement. We describe a 53-year-old woman with HHT whose first symptoms of hypercirculatory heart failure developed 1.5 years before the final diagnosis of HHT. We measured a heart-time-volume of 14-151/min. by echocardiography and a flow-volume of 5-9 l/min. in the proper hepatic artery by dopplersonography on admission. We were able to demonstrate multiple intra- and extra-hepatic and gastric arteriovenous malformations by arteriography. Branches of the proper hepatic artery and the left gastric artery were embolized in three serial sessions. By this procedure we were able to reduce the flow-volume in the proper hepatic artery from 5-9l/min. to 1.5l/min. and the heart-time-volume to a minimum of 9.8l/min. and thus stop progression of the hyperdynamic heart failure.

Little is known about the course of cerebral aneurysms in hereditary hemorrhagic teleangiectasia (Rendu-Osler-Weber's disease). Thus, therapeutic decisions are often difficult. For the first time, we report the successful embolization of an arteriovenous fistula and multiple aneurysms of the posterior inferior cerebellar artery (PICA) of a patient with Rendu-Osler-Weber's disease after subarachnoid hemorrhage. Two years later she suffered another severe intracranial hemorrhage. Angiography revealed an aneurysm in the same artery (PICA), which spontaneously disappeared within 2 months. Spontaneous regression of aneurysms in Rendu-Osler-Weber's disease has not been reported before.

The 2-year spontaneous course of a case of cutis marmorata teleangiectatica congenita in a girl is reported. The child had typical cutis marmorata, with teleangiectasis, phlebectasias and ulceration particularly on parts of the left leg and in the anogenital region, with no further anomalies. During symptomatic therapy over 2 years the lesions faded spontaneously.

Hereditary hemorrhagic teleangiectasia (HHT) is known to be associated in 15% with pulmonary arterio-venous fistulas (PAVF). Symptoms and complications of these fistulas are: hemoptysis, dyspnea, hemothorax, cerebral embolization and brain abscess. We studied a family with 7 members known to have HHT. 3 had PAVF. Patient 1 died of a hemothorax and pleural empyema. PAVF were diagnosed at autopsy. Patient 2 (nephew) suffered from a cerebellar abscess. The fistula-bearing part of the lung was removed by wedge resection. Patient 3 (son of the former) had no symptoms, but the arterial PO2 was 6.7 kPa. In order to prevent complications like in his father, the patient was operated. A lobar resection was necessary to remove the fistula. The postoperative course was eventless in patients 2 and 3. We conclude, that periodical thorax X-ray studies are indicated for all members of families with HHT in order to find PAVF before complications occur. The classical treatment is resection of the fistula with as little lung tissue as possible. Good results have been reported lately with embolization of PAVF, but this method is not generally available yet.

Long-term determinations of haemostasis factors in a case of Osler's telangiectasia revealed the temporarily simultaneous existance of periods of thrombocytopenia, a decrease of prothrombine and a reduction of the fibrinogen and plasminogen level. These findings considered as signs of consumption coagulopathy coincided with an increased bleeding tendency of the patient. The correlation existing between the clinical symptoms and the observed disorders of coagulation may possibly be explained by the appearance of an intravascular coagulation during the late period of the haemorrhagic diathesis, which could be proved by the simultaneous increase of fibrinogen degradation products. Moreover, the patient's plasma was capable of strongly inhibiting factor VIII of a normal plasma. The possible influence of plasmatic disorders of coagulation which are caused by secondary reasons on the clinical picture of a haemorrhagic diathesis primarily based on vascular conditions is discussed.

Hereditary hemorrhagic teleangiectasia is transmitted by an autosomal dominant character with typical vascular dysplasias in form of teleangiectasias and angiomas which occur on the skin, on the mucous membranes and also in nearly all organs of the body. More than 50% of patients with Osler's disease also have arteriovenous lung malformations. Therefore, pulmonary arteriovenous fistulas should be studied by x-rays for every member of a family suffering from this disease. To prove the suspicion of pulmonary arteriovenous fistula, the procedure of intravenous DSA should be used.

The hereditary hemorrhagic teleangiectasia, commonly known as "Rendu-Osler-Weber" disease, is a relatively seldom found affection manifesting itself by the formations of localized arteriovenous capillary connections which are tiny arteriovenous fistulas. They are found in the skin, the mucous membranes and in nearly all organs of the body. The diseases is transmitted by a dominant character. Affections of the lung can be seen in 89% of the cases (1). In the following paper five exemplary cases are to show that the simple radiological method of the roentgenogram of the thorax taken in the frontal projection and in the lateral view, assisted by the conventional tomography in most cases will bring the last diagnosis. In the differential diagnosis nodules in the lung can be delimited by the connecting arteries and veins.