Pomalidomide for Epistaxis in Hereditary Hemorrhagic Telangiectasia.

BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is characterized by extensive telangiectasias and arteriovenous malformations. The primary clinical manifestation is epistaxis that results in iron-deficiency anemia and reduced health-related quality of life. METHODS: We conducted a randomized, placebo-controlled trial to evaluate the safety and efficacy of pomalidomide for the treatment of HHT. We randomly assigned patients, in a 2:1 ratio, to receive pomalidomide at a dose of 4 mg daily or matching placebo for 24 weeks. The primary outcome was the change from baseline through week 24 in the Epistaxis Severity Score (a validated bleeding score in HHT; range, 0 to 10, with higher scores indicating worse bleeding). A reduction of 0.71 points or more is considered clinically significant. A key secondary outcome was the HHT-specific quality-of-life score (range, 0 to 16, with higher scores indicating more limitations). RESULTS: The trial was closed to enrollment in June 2023 after a planned interim analysis met a prespecified threshold for efficacy. A total of 144 patients underwent randomization; 95 patients were assigned to receive pomalidomide and 49 to receive placebo. The baseline mean (±SD) Epistaxis Severity Score was 5.0±1.5, a finding consistent with moderate-to-severe epistaxis. At 24 weeks, the mean difference between the pomalidomide group and the placebo group in the change from baseline in the Epistaxis Severity Score was -0.94 points (95% confidence interval [CI], -1.57 to -0.31; P = 0.004). The mean difference in the changes in the HHT-specific quality-of-life score between the groups was -1.4 points (95% CI, -2.6 to -0.3). Adverse events that were more common in the pomalidomide group than in the placebo group included neutropenia, constipation, and rash. CONCLUSIONS: Among patients with HHT, pomalidomide treatment resulted in a significant, clinically relevant reduction in epistaxis severity. No unexpected safety signals were identified. (Funded by the National Heart, Lung, and Blood Institute; PATH-HHT Clinicaltrials.gov number, NCT03910244).

Telangiectasias, recurrent epistaxis and a strong family history-a case of Osler- Weber-Rendu Syndrome in Pakistan.

Osler-Weber-Rendu syndrome or Hereditary Haemorrhagic Telangiectasia (HHT) is a rare condition, with very few reported cases, especially in Pakistan. As healthcare workers, we encounter multiple cases of recurrent epistaxis in the emergency as well as outpatient departments. However, patients are usually treated symptomatically without a thorough workup. HHT should be considered among the differentials for recurrent epistaxis, as a clinical diagnosis can be made with detailed family history and physical examination. Here is the case of a 58-year-old male who presented to the Gastroenterology OPD, Combined Military Hospital, Lahore, in November 2021, with complaints of generalised weakness and blood in stools. He had a history of recurrent epistaxis and telangiectasias, and further inquiry revealed a strong family history of similar symptoms. He was diagnosed as a case of Osler-Weber- Rendu Syndrome. Informed consent was taken from the patient prior to the writing of the manuscript.

Case 314.

HISTORY: An 18-year-old man presented to the neurosurgery outpatient department with recurrent episodes of epistaxis for the past 8 years and altered behavior for the past month. Epistaxis was scanty in amount, intermittent, spontaneous, and not associated with any trauma or nasal obstruction or breathing difficulties. Bleeding used to stop spontaneously after some time. There was no history of associated headache, seizures, vomiting, fever, or loss of consciousness. On physical examination, the patient was afebrile, with normal vital signs and normal Glasgow Coma Scale score (15 of 15) at the time of presentation. Multiple dilated engorged veins were visible on the forehead; however, there was no evidence of abnormal skin pigmentation. Neurologic examination yielded findings that were within normal limits. Laboratory examinations revealed a hemoglobin level of 11 g/dL (normal range, 13.2-16.6 g/dL), with the rest of the parameters within normal limits. This patient underwent unenhanced CT of the brain and paranasal sinuses followed by contrast-enhanced MRI of the brain for further evaluation (Figs 1-3).

Case 314: Cerebral Proliferative Angiopathy.

HISTORY: An 18-year-old man presented to the neurosurgery outpatient department with recurrent episodes of epistaxis for the past 8 years and altered behavior for the past month. Epistaxis was scanty in amount, intermittent, spontaneous, and not associated with any trauma or nasal obstruction or breathing difficulties. Bleeding used to stop spontaneously after some time. There was no history of associated headache, seizures, vomiting, fever, or loss of consciousness. On physical examination, the patient was afebrile, with normal vital signs and normal Glasgow Coma Scale score (15 of 15) at the time of presentation. Multiple dilated engorged veins were visible on the forehead; however, there was no evidence of abnormal skin pigmentation. Neurologic examination yielded findings that were within normal limits. Laboratory examinations revealed a hemoglobin level of 11 g/dL (normal range, 13.2-16.6 g/dL), with the rest of the parameters within normal limits. This patient underwent unenhanced CT of the brain and paranasal sinuses followed by contrast-enhanced MRI of the brain for further evaluation.

Frequency of epistaxis and telangiectasia in patients with hereditary hemorrhagic telangiectasia (HHT) in comparison with the general population: Curaçao diagnostic criteria revisited.

PURPOSE: The Curaçao criteria are well-established diagnostic criteria for hereditary hemorrhagic telangiectasia (HHT), but they lack details regarding a predictive presentation of epistaxis and telangiectasias. This study collects and compares data in HHT and population cohorts to inform the application of these criteria. METHODS: In-person interviews regarding epistaxis and targeted examination for telangiectases in a general population cohort (n = 204) and an HHT cohort (n = 432) were conducted. RESULTS: Frequency of epistaxis, rather than intensity or duration, was the best discriminator of HHT. A cutoff of ≥4 nosebleeds per year alone yielded a diagnostic sensitivity of 97%, and specificity of 84%. The mean number of telangiectases at the sites investigated was 0.4 in the general population cohort and 26.5 in the HHT cohort. The most distinctive sites for telangiectases in HHT were lips and palmar fingers, whereas telangiectases of the face and dorsum of the hand were comparable in both cohorts. CONCLUSION: We propose that the Curaçao criteria be modified to include the following cutoffs: (1) epistaxis frequency of ≥4 nosebleeds per year and (2) telangiectasia count of at least 2 in characteristic locations (palmar aspect of fingers, lips, and oral cavity), and that cutaneous telangiectases at other sites not be considered relevant for diagnostic purposes.

Differential disease diagnoses of epistaxis based on dynamic uncertain causality graph.

PURPOSE: Epistaxis is a common symptom and can be caused by various diseases, including nasal diseases, systemic diseases, etc. Many misdiagnosis and missed diagnosis of epistaxis are caused by lack of clinical knowledge and experience, especially some interns and the clinicans in primary hospitals. To help inexperienced clinicans improve their diagnostic accuracies of epistaxis, a computer-aided diagnostic system based on Dynamic Uncertain Causality Graph (DUCG) was designed in this study. METHODS: We build a visual epistaxis knowledge base based on medical experts' knowledge and experience. The knowledge base intuitively expresses the causal relationship among diseases, risk factors, symptoms, signs, laboratory checks, and image examinations. The DUCG inference algorithm well addresses the patients' clinical information with the knowledge base to deduce the currently suspected diseases and calculate the probability of each suspected disease. RESULT: The model can differentially diagnose 24 diseases with epistaxis as the chief complaint. A third-party verification was performed, and the total diagnostic precision was 97.81%. In addition, the DUCG-based diagnostic model was applied in Jiaozhou city and Zhongxian county, China, covering hundreds of primary hospitals and clinics. So far, the clinicians using the model have all agreed with the diagnostic results. The 432 real-world application cases show that this model is good for the differential diagnoses of epistaxis. CONCLUSION: The results show that the DUCG-based epistaxis diagnosis model has high diagnostic accuracy. It can assist primary clinicians in completing the differential diagnosis of epistaxis and can be accepted by clinicians.

[Epidemiology and modern methods of treatment of non-traumatic nosebleeds]. / Epidemiologiya i sovremennye metody lecheniya netravmaticheskikh nosovykh krovotechenii.

Data on the detection incidence of nosebleeds (NBs) of non-traumatic origin in the population show considerable variability in statistical indicators, and NBs treatment and consequences depend on the localization of hemorrhage source, the volume of blood loss, patient's general condition, the presence and nature of comorbid pathology and a number of other factors. There are some differences in the choice of NBs treatment options, evaluation of their clinical and economic efficiency, which indicates the need to analyze and systematize the results of such studies. OBJECTIVE: To analyze data on prevalence and current treatment approaches of non-traumatic nosebleeds. MATERIAL AND METHODS: The search for publications (articles and related abstracts) on the subject of the study, presented in the PubMed database, has been conducted. The choice of material was made according to the following key words: non-traumatic nosebleeds, causes, incidence, methods of stopping nosebleeds. RESULTS: The literature data show a significant prevalence of NBs in the population, their potential hazard to the life of patient and the importance of clinical and demographic characteristics of persons for determining treatment tactics in each case. In practical terms, primary and secondary NBs should be distinguished. In case of primary NB, the use of coagulation and nasal packing is recommended after determining the place of bleeding. In secondary NB it is necessary to establish its cause in order to assess risk factors and apply appropriate topical or systemic drug therapy. The so-called difficult (difficult-to-treat) NBs deserve special attention. As a rule, these cases involve bleeding from the posterior parts of nose. The analysis of publications shows a high (90%) efficacy of surgical interventions, used as first-line treatment. Effectiveness of embolization in such cases was 75% and of anterior/posterior nasal packing was 62%. CONCLUSION: The literature data show a significant prevalence of nosebleeds in the population and their potential hazard to the life of patient. The existing differences in the assessments of treatment options for this pathology, their clinical and economic efficiency are the basis for further research, in particular, to clarify the causes of nosebleeds' occurrence and recurrence, the impact of treatment methods on quality of patients' life.

Survival of a Blank Cartridge Gunshot Injury to the Soft Palate in a Soldier.

ABSTRACT: The authors report a case of a soldier who survived after shooting a blank round from a K2 rifle into the oral cavity.For committing suicide, a 22-year-old male soldier shot a K2 rifle into his oral cavity. Because the first shot was a blank fire, he received an injury to his oral cavity, especially to his palate. On arrival hospital via air evacuation, the patient's vital signs were relatively stable and Glasgow Coma Scale score was 15. Profound epistaxis was noted from both nostrils, and his mouth was filled with blood. Intubation was performed immediately, followed by tracheostomy. On computed tomography scan, the palate was injured and laryngeal edema was seen.On operative field, severe swelling of the larynx was observed. Gunpowder remained present throughout nearly the entire palate. His palate was burned, and there was a 3-cm-diameter mucosal defect. The bleeding point was cauterized, and bleeding was controlled using oral packing. The packing was changed every morning for the first 2 days, and finally removed on the third day of hospitalization. On the eighth day of hospitalization, the defect of his soft palate showed healing by secondary intention, and a planned reconstructive operation was not needed. Tracheostomy was removed on the 45th day. He was able to eat and speak at the time of discharge (93rd day).The authors cannot overemphasize the importance of the airway in oral injuries. Packing for bleeding control under a safe airway should be followed as a routine part of the protocol for similar cases.

[Recurrent epistaxis associated with Randu-Osler disease, requiring ligation of the external carotid arteries on both sides]. / Retsidiviruyushchee nosovoe krovotechenie na fone bolezni Randyu­Oslera, vyzvavshee neobkhodimost' perevyazki naruzhnykh sonnykh arterii s obeikh storon.

A rare clinical case of recurrent nosebleeds associated with Randu-Osler disease, in which drug, hemostatic, transfusion therapy and combined nasal tamponade were ineffective, required ligation of the external carotid arteries on both sides, is presented.

A Rare Case of von Willebrand Disease Presenting as Hemolacria and Literature Review.

Hemolacria is a rare condition that causes a person to produce tears that are partially composed of blood. It can be a presenting feature of certain ocular and systemic conditions. Here, the authors describe an interesting case of a 12-year-old boy with an underlying beta-thalassemia trait, who presented with a 2-day history of bilateral blood-stained tears, and an episode of epistaxis. Ocular examination was normal, and syringing showed no nasolacrimal duct blockage. Systemic examination was unremarkable. Laboratory investigations confirmed type 2 von Willebrand disease. Management of hemolacria remains a clinical challenge given the rare occurrence of the disease. In this case report, the authors discuss the differential diagnosis and management approach to hemolacria.

Are laboratory evaluations required in every case admitted to the pediatric emergency department with epistaxis?

BACKGROUND: Epistaxis is a mostly self-limiting condition common among children and is rarely severe. In this study, it was aimed to evaluate the incidence, demographic characteristics, causes of bleeding and treatment methods of patients who presented to the pediatric emergency department (PED) with epistaxis, and to determine in which cases a laboratory test should be used. METHOD: Admitted to Gazi University Faculty of Medicine, PED which provides trauma care and is a tertiary hospital, from 1 January 2019 to 31 December 2019, 452 patients aged 0-18 years who presented with epistaxis for any reason or secondary to systemic disease were analysed retrospectively. RESULTS: The annual incidence was found at 1.23%. The median age was 5.25 years, 258 of the cases (57.1%) were male. It was found that the cases most frequently applied to the hospital in the autumn months (37.6%). Sixty of the patients (13.3%) had a chronic disease and 54 (11.9%) had a history of drug use. Bleeding time was less than 5 minutes in 75.2% and 84.4% of the bleeding was unilateral. Nasal bleeding is local in 73.4%; 4.7% of them developed because of systemic reasons. The most common cause of epistaxis; while they were trauma at the first 10 years of age, they were idiopathic causes after the age of 10 years. In 434 (96%) of the patients, epistaxis spontaneously stopped and there was no need for additional treatment. CONCLUSION: As a result of this study, it was concluded that laboratory tests should be performed in cases with chronic disease history, bilateral bleeding, active bleeding and nontraumatic epistaxis. The situation that causes epistaxis in the childhood age group should be determined with a good history and physical examination, laboratory tests should not be used in every patient.

The power of a checklist: Decrease in emergency department epistaxis transfers after clinical care pathway implementation.

BACKGROUND: Annually, epistaxis costs US hospitals over $100 million dollars. Many patients visit emergency departments (ED) with variable treatment, thus providing opportunity for improvement. OBJECTIVE: To implement an epistaxis clinical care pathway (CCP) in the ED, and analyze its effects on treatment and ED transfers. METHODS: An interdisciplinary team developed the CCP to be implemented at a tertiary hospital system with 11 satellite EDs. The analysis included matched eight-month periods prior to pathway implementation and after pathway implementation. Subjects included patients with ICD-10 code diagnosis of epistaxis. Patients under 18 years old, recent surgery or trauma, or bleeding disorders were excluded. There were 309 patients from the pre-implementation cohort, 53 of which were transferred and 37 met inclusion criteria; 322 from the post-implementation cohort, 37 of which were transferred, and 15 met inclusion criteria. Outcome measures included epistaxis intervention by ED providers and otolaryngologists before and after pathway implementation. RESULTS: CCP implementation resulted in a 61% reduction in patient transfers (p < 0.001). ED providers showed a 51% increase in documentation of anterior rhinoscopy with proper equipment, 34% increased use of topical vasoconstrictors, 40% increased use of absorbable packing, 7% decrease in use of unilateral non-absorbable packing, and 17% decrease in use of bilateral non-absorbable packing. CONCLUSIONS: Prior to CCP implementation, ED treatment of epistaxis varied significantly. CCP resulted in standardized treatment and significant reduction in transfers. A CCP checklist is an effective way to standardize care and prevent unnecessary hospital transfers.

For nasotracheal intubation, which nostril results in less epistaxis: right or left?: A systematic review and meta-analysis.

BACKGROUND: Nasotracheal intubation is usually required in patients undergoing oromaxillofacial, otolaryngological or plastic surgery to prevent the airway encroaching into the operating field. Epistaxis is the most common complication, but which nostril is associated with a lower incidence and severity of epistaxis is still unclear. OBJECTIVE: When both nostrils are patent, to determine the preferred nostril for nasotracheal intubation under general anaesthesia. DESIGN: A systematic review and meta-analysis of randomised controlled trials (RCTs). The primary outcome was the incidence of epistaxis and the secondary outcomes included the incidence of severe epistaxis, the time required to pass the tube through the nasal passage and total intubation time. DATA SOURCES: PubMed, Embase and the Cochrane Register of Controlled Trials were searched from database inception to 1 March 2020. ELIGIBILITY CRITERIA: The only studies included were RCTs comparing epistaxis related to nasotracheal intubation via right or left nostril, in adult surgery patients undergoing general anaesthesia. RESULTS: Ten RCTs with 1658 patients were included. Compared with the left nostril, intubation via the right nostril was associated with a significantly lower incidence of epistaxis: risk ratio (RR) and 95% confidence intervals (CI) were 0.78 (0.62 to 0.99), P = 0.04: a lower incidence of severe epistaxis (five studies, n=923), RR 0.40 (0.22 to 0.75), P = 0.004: and a shorter intubation time (three studies, n=345), mean difference -7.28 (-14.40 to -0.16) seconds, P = 0.05. In two studies (n=310), no significant difference between the right and left nostril was observed in the time to pass the tube through the nasal passages, mean difference -0.59 (-1.95 to 0.77) s, P = 0.40. CONCLUSION: On the basis of the current available evidence, when both nostrils are patent, the right nostril is more appropriate for nasotracheal intubation, with a lower incidence and severity of epistaxis and faster intubation time. TRIAL REGISTRATION: The study protocol has been registered in PROSPERO (CRD42020169949).

The Infective Endocarditis with Recurrent Epistaxis in a Young Patient: A Case Report.

Epistaxis is a common emergency, and its main causes are hypertensive crisis and trauma. Nasal packing is the primary treatment. After active symptomatic treatment, the symptoms of epistaxis effectively can be controlled. In this case report, the patient was treated with epistaxis many times in the outpatient department. After nasal examination, there was a clear bleeding point, and it was treated with gauze packing or silver nitrate cauterization. The symptoms of epistaxis gradually got worse and was accompanied with fever and progressive anemia. After blood culture and color Doppler ultrasound examination, it was confirmed that it was endocarditis caused by defective hypoxic bacterial infection. After active antibacterial and surgical treatment, the symptoms of epistaxis, fever and anemia were relieved.

[Epistaxis-overview and current aspects]. / Epistaxis ­ Übersicht und aktuelle Aspekte.

Nosebleeds (epistaxis) are usually minor. Medical intervention is only necessary in about 6% of cases. The source of bleeding is frequently located in the anterior region of the nose (Kiesselbach's plexus). The estimated lifetime prevalence of epistaxis is 60%. Diffuse epistaxis is often a manifestation of systemic disease. Epistaxis is the leading symptom of Rendu-Osler-Weber disease (hereditary hemorrhagic telangiectasia, HHT). If intervention is required, the first-choice of treatment is bidigital compression for several minutes. Common therapeutic measures include local hemostasis using electrocoagulation or chemical agents, e.g., silver nitrate. Resorbable anterior nasal tampons or tampons with a smooth surface are also frequently employed. In case of failed surgical closure of the sphenopalatine artery, angiographic embolization is the method of choice.

[Epistaxis and arterial hypertension: a pathogenic link]. / Nosovoe krovotechenie i arterial'naya gipertenziya: patogeneticheskaya svyaz'.

THE AIM OF THIS RESEARCH: Was to study changes in the nasal mucosa vessels in hypertensive patients suffering from recurrent epistaxis. PATIENTS AND METHODS: 78 hypertensive patients aged between 50 and 70, admitted due to epistaxis were studied. Diabetic, coagulopathic patients and those taking anticoagulants were excluded from the research. All the patients were divided into 2 groups: group 1 (46 people) with a single epistaxis, group 2 (32 people) with a recurrent epistaxis. At the admission time all the patients showed elevated arterial pressure, yet the differences between the patients of group 1 and group 2 were not significant. 14 patients of group 2 did not reveal any source of hemorrhage due to a severely deviated septum. These patients underwent septoplasty followed by mucoperichondrium biopsy. Histological study of samples showed multiple erosions within the epithelial layer, as well as necrotic patches spreading to the deeper mucous coat layers. The microvasculature showed dystrophic changes in the endothelium, its focal desquamation with basal membrane exposure and thrombocytes and erythrocytes adhesion at such places, erythrocyte aggregation, plasma separation, erythrocyte and fibrinous thrombi formation. Ultrastructural investigation revealed dystrophic changes in the capillary endothelium of the nasal mucosa combined with rheological disorders expressed as erythrocytes sludge. Thus, the cause of epistaxis is not high arterial pressure, but those changes in the nasal mucosa vessels promoted by long arterial hypertension.

[Epidemiology of spontaneous nasal, ear and throat bleedings]. / Epidemiologiya spontannykh krovotechenii iz ukha, gorla, nosa.

Bleeding is a life-threatening condition, requiring an urgent care. The first line of treatment this kind of patients is ambulance doctors (emergency medical team). Spontaneous bleeding (SB), in this case, don't have a traumatic agent (including surgical trauma). STUDY OBJECTIVE: The purpose of this study was to evaluate spontaneous bleeding epidemiological profile of Moscow city emergency service. METHODS: Study included statistical reports of Moscow city emergency services medical teams (EMT) were servicing adults. We analyzed total number of calls and number of EMT calls to pa-tients with SB during the period between 2015 and 2019. The excluding criteria was EMT re-calls to patents with SB. RESULTS: In a study, it was found that over five-year period of observation, EMT made 15 709 862 calls, included 215 840 calls (1.37%) to patients with SB. It was found that the most frequency sources of SB were: the gastrointestinal tract (33.18%), the nasal cavity (28.14%) and the vagina with the uterus (23.91%). There is the proportion of patients suffering of SB from ENT organs is 28.52% in structure of Moscow city Emergency Medical Service. There are the proportion of epistaxis 98.65%, ear bleeding - 0.89%, throat bleeding - 0.46% in structure of SB from ENT organs. We analyzed, that spontaneous epistaxis most frequent between October and April. This period characterized with 70.6% EMT calls from the total EMT calls to patients with SE.

[Approximation analysis in the study of the epidemiology of the epistaxis]. / Approksimatsionnyi analiz v izuchenii epidemiologii nosovykh krovotechenii.

Epistaxis or nosebleeds (NB) are the most common emergency pathology that otorhinolaryngologists have to deal with. Purpose of the work: to study the prevalence of patients with NB in the otorhinolaryngological departments of hospitals in Moscow from 2003 to 2019. The reports of the heads of the ENT departments of the city clinical hospitals in Moscow were studied. Inclusion criteria were hospitals working with an adult contingent of patients. An approximation analysis was carried out and trend indicators of the prevalence of NB were studied. RESULTS: 2003 to 2019 the total number of patients treated in ENT hospitals was 563 189 people, 20 623 (3.7%) patients were treated with NB, of which 52 (0.25%) died. The average age of the deceased was 64.7 years, men are 73.7% more prevalent than women. In 96.2% of patients, epistaxis was a complication of the underlying disease, and in 3.8%, it was regarded as a concomitant condition. In 30.8% of the deceased, NB recurred with the background of malignant lesions of the nose and nasopharynx, in 69.2% - posthemorrhagic anemia aggravated diseases of other organs and systems. Over the past 17 years, there has been a tendency for the growth of treated patients with diseases of ENT organs and patients with nosebleeds by 58.5% and 51.1%, respectively. The studied approximation of the relative prevalence and mortality rates in patients with NB showed that for the period from 2003 to 2019. trend values are practically at the same level with the minimum multidirectional linear dynamics - -0.24% and +0.04%, respectively.

Plasma VEGF - a candidate biomarker for response to treatment with bevacizumab in HHT patients.

BACKGROUND: Recurrent epistaxis is the principal symptom of hereditary hemorrhagic telangiectasia (HHT). Currently, there is no standard therapy for this condition. Bevacizumab (anti-VEGF) treatment has been under intense investigation but treatment effects vary greatly between individuals. There are currently no markers to predict anti-VEGF therapeutic response in HHT patients. METHODS: We evaluated plasma VEGF levels in 13 HHT patients and correlated values with i) degree of epistaxis, measured by visual analog scale (VAS), epistaxis severity score (ESS), and patient bleeding diaries ii) the prevalence of extranasal manifestations, iii) the HHT subtype and iv) the treatment response to intranasal submucosal bevacizumab. RESULTS: Plasma VEGF was elevated in all 13 HHT patients compared to reference levels and showed a moderate correlation with VAS and duration of moderate bleeding events. In patients treated with intranasal submucosal bevacizumab plasma VEGF levels showed a strong correlation with the degree of reduction of mild bleeding events and VAS. CONCLUSIONS: The role of plasma VEGF as a potential predictive biomarker for therapeutic response to bevacizumab treatment warrants further investigation in larger prospective studies.

[Diagnostic Criteria and Treatment of Hereditary Hemorrhagic Telangiectasia]. / Diagnostik und Behandlung der hereditären hämorrhagischen Teleangiektasie.

Hereditary hemorrhagic telangiectasia (HHT; Osler-Weber-Rendu syndrome; Morbus Osler) represents a syndrome affecting capillary vessels, leading to arteriovenous shunting. With an average worldwide prevalence of 1:5.000-8.000 HHT is considered an orphan disease. Arteriovenous shunts involve predominantly the nasal mucosa, the intestine, lung, liver and central nervous system. Epistaxis is the primary and most bothersome complaint of patients with HHT. A multistage therapeutic concept includes nasal ointment, laser therapy under local anesthesia and surgery under general anesthesia, as well as drug therapies. In addition, screening to determine affection of internal organs is carried out. Lesions that require therapy should be treated in an interdisciplinary setting. Treatment of lesions of the skin, oral and gastrointestinal mucosa and liver is carried out in regard to patients' symptoms, whereas vascular malformations of the lung and brain might need treatment without being symptomatic, due to possible life-threatening complications.