Stereotactic radiosurgery for brain arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia.

OBJECTIVE: Brain arteriovenous malformations (AVMs) in patients with hereditary hemorrhagic telangiectasia (HHT) present different characteristics from sporadic AVMs, and they have lower initial bleeding rates. Conservative management is usually preferred for the treatment of these lesions. In this case study, we present the largest series of HHT patients treated with stereotactic radiosurgery to date. METHODS: We identified eight patients with HHT and 14 AVMs. We retrospectively collected clinical, radiographic, and treatment characteristics of the patients and each AVM. RESULTS: Most patients in our sample presented with small AVMs. The median volume of these AVMs was 0.22 cm3 (IQR 0.08-0.59). Three out of eight patients presented with initial intracerebral hemorrhage (ICH). The majority of lesions had low (12/14) Spetzler-Martin grades (I-II). Median maximum and margin doses used for treatment were 36.2 (IQR 35.25-44.4) and 20 (IQR 18-22.5) Gy, respectively. The overall obliteration rate after SRS was 11/14, and the median time to obliteration across all 11 obliterated AVMs was 35.83 months (IQR, 17-39.99). Neurological status was favorable with all patients having a mRS of 0 or 1 at the last follow-up. Symptomatic radiation-induced changes (RIC) after SRS were low (7.1%), and there were no permanent RIC. CONCLUSIONS: Patients with HHT who present with multiple brain AVMs are generally well served by SRS. Obliteration can be achieved in the majority of HHT patients and with a low complication rate. In the current study, initial hemorrhage rates prior to SRS were noticeable which supports the decision to treat these AVMs. Future studies are needed to better address the role of SRS for HHT patients harboring ruptured and unruptured AVMs.

Recurrence of Hereditary Hemorrhagic Telangiectasia After Liver Transplantation: Clinical Implications and Physiopathological Insights.

Liver transplantation (LT) has been proposed as a curative treatment in hereditary hemorrhagic telangiectasia (HHT) with severe hepatic involvement. We provide a long-term evaluation of graft status after LT for HHT, with a focus on the risk of recurrence. The present study included all patients prospectively followed up after LT for HHT in the Lyon Liver Transplant Unit from 1993 to 2010, with a survival of more than 1 year. Protocol clinical, radiological, and histological examinations were performed at regular intervals. Fourteen patients were included (13 women and one man). Median age at LT was 52.5 years (range: 33.1-66.7). In eight patients (seven female), disease recurrence was diagnosed by abnormal radiological features, suggestive of microcirculatory disturbances. Typical vascular lesions, including telangiectasia, were demonstrated by liver biopsy in five of these patients. The median interval between LT and diagnosis of recurrence was 127 months (range: 74-184). The risk of recurrence increased over time; estimated cumulative risk was 47.9% at 15 years. Liver tissue analysis found the coexistence of an angiogenic process combined with endothelial microchimerism, as shown by the presence of vascular lining cells of recipient origin. Conclusion: The present data show that disease recurrence occurs, usually after a long delay, in a significant number of patients treated by LT for liver complications of HHT. This strongly supports the necessity of a lifelong follow-up and suggests that therapeutic strategy needs discussion and evaluation, especially of the role of potential adjuvant treatments to LT, such as antiangiogenic medications, when recurrent disease appears.

Patient-recorded benefit from nasal closure in a Danish cohort of patients with hereditary haemorrhagic telangiectasia.

BACKGROUND: Nasal closure, also known as the modified Young's procedure was introduced in Denmark in 2008, as a surgical solution to severe epistaxis in patients with hereditary haemorrhagic telangiectasia (HHT). The objective of this study was to report the overall satisfaction of the procedure from a patient's point of view as well as the occurrence of complications. METHODS: All the HHT patients who underwent nasal closure from 2008 to 2018 were included in the study. The patients were evaluated for postoperative complications and subjective outcome using Glasgow Benefit Inventory (GBI). RESULTS: Ten patients were included in the study and were observed for a mean of 64 months. None of the patients was completely free of complications, and reversal was requested in a single case. Haemoglobin levels rose with an average of 2.8 g/dl. The average GBI score after surgery was 38.05. Nine of ten patients would recommend nasal closure to fellow HHT patients. CONCLUSION: Nasal closure is highly recommended among patients, but due to the rate of postoperative complications, the procedure should be reserved for a carefully selected group of HHT patients.

Pulmonary arteriovenous malformation managed by VATS lobectomy.

Pulmonary arteriovenous malformation (PAVM) is formed by abnormal connections between pulmonary arteries and veins that bypass the pulmonary capillaries and transport deoxygenated blood through pulmonary veins to the left heart. This causes insufficient oxygenation of blood in the lungs. This condition remains symptomless for a long period of time. The most common symptoms include shortness of breath on exertion, nosebleeds, increased fatigue and a gradual development of cyanosis. Paradoxical embolism in the brain is a serious complication; it can present with a stroke or a brain abscess. Treatment of the disease consists of embolization of the pathological vascular connections, surgical resection of the affected pulmonary parenchyma and management of concomitant manifestations of the disease. PAVM in most common cases arises as a result of an autosomal dominant hereditary disorder referred to as hereditary hemorrhagic telangiectasia.  Case report: In our communication, we document the diagnostic and therapeutic management in a young patient diagnosed with PAVM after falling off his bicycle. Based on comprehensive assessments, AV malformations with a 40% shunt of the pulmonary circulation were detected. An angiographic procedure was not an appropriate option considering the type and extent of the condition. Therefore, video-assisted thoracic resection of the affected pulmonary lobe was indicated. Conclusion: PAVM is a rare finding. PAVM should be ruled out in all patients with hereditary hemorrhagic telangiectasia (HHT) signs in the oral cavity. Contrast sonography of the heart and contract CT of the chest are the methods of choice for the diagnosis. Conservative or pharmacological treat-ment fails to improve the patients status.  The condition is usually managed by embolization. Cases where PAVM is rather extensive or diffuse, where endovascular management would be inappropriate, can be well managed using endoscopic resection adequate to the extent of the condition.

[A Case of Ruptured Cerebral Arteriovenous Malformation Associated with Hereditary Hemorrhagic Telangiectasia].

BACKGROUND: Patients with hereditary hemorrhagic telangiectasia(HHT)are known to have high rates of cerebral arteriovenous malformations(AVMs). Compared to patients with sporadic AVMs, patients with HHT are less likely to present with ruptured AVMs. CASE REPORT: A 14-year-old male patient presented with headache that had lasted for 2 days. CT revealed an intracerebral hemorrhage in the right parietal lobe, and enhanced CT revealed an AVM in the upper part of the hematoma. The size of the nidus was 20 mm, and its feeders were the right superior internal parietal artery and a branch of the anterior cerebral artery. In addition, the AVM had no deep drainer. We also found another AVM in the right temporal lobe and identified telangiectasia of the nose using digital subtraction angiography. We suspected HHT and performed whole body CT, which revealed an arteriovenous fistula in the right lung and a hematoma-like lesion in the spleen. Thus, we diagnosed the patient with HHT. His ruptured AVM was removed electively. CONCLUSION: We report a case of HHT that presented as an intracerebral hemorrhage in a patient. Based on our case study findings, it is necessary to perform long-term follow-up not only for brain AVMs but also for visceral vascular malformations in such patients, as well as perform HHT screening for families. Although such cases are rare, some features of HHT must be considered to accurately diagnose suspected HHT.

Orthotopic Liver Transplantation for Hereditary Hemorrhagic Telangiectasia and MEN Type I Syndrome - Case Report and Review of Literature.

Introduction: Hereditary haemorrhagic telangiectasia (HHT) is a rare autosomal dominant genetic disorder characterized by arteriovenous malformations (AVMs) mainly affecting the lungs and the liver. In this case AVM's resulted in liver cirrhosis and an indication for orthotopic liver transplantation (OLT). Case Report: A 59 year-old male patient with HHT who had been previously diagnosed with Multiple Endocrine Neoplasia type 1 Syndrome (MEN 1) was listed for OLT for end-stage liver disease due to hepatic AVMs. During the procedure, a novel type of arterial anastomosis (end-toside) was chosen because of the mismatch in diameter between the hepatic artery (HA) of the donor and the recipient, respectively. Graft function was normal and repeat Doppler ultrasound studies showed a normally functioning arterial anastomosis. However, the patient died on POD 34 due to an un-related cause (cardiac arrest resulting from myocardial infarction). Conclusion: To the best of our knowledge this is the first report of an association of HHT and MEN 1. Moreover, this is also the first reported end-to-side arterial anastomosis in an HHT patient during OLT. Our paper shows that the surgical technique we applied is both feasible and safe.

Sinonasal quality of life outcomes following laser treatment of epistaxis related to hereditary hemorrhagic telangiectasia.

Hereditary hemorrhagic telangiectasia (HHT) is an inherited vascular disorder which manifests as recurrent, episodic, and potentially debilitating epistaxis. In this study, we aim to (1) characterize baseline sinonasal symptoms for HHT patients and to (2) analyze changes in sinonasal symptoms before and after laser surgical treatment for HHT. We performed a retrospective chart review of sinonasal outcome test-22 (SNOT-22) scores before and after one or more laser surgical treatments for HHT-related epistaxis between January 1, 2010 and December 1, 2015 at a tertiary academic medical center with an HHT Foundation-approved Center of Excellence. Preoperative and all subsequent postoperative SNOT-22 scores (short-term, <45 days and long-term, ≥45 days) were compared. Twenty consecutive HHT patients underwent 51 laser surgeries for recurrent epistaxis. Mean preoperative, short-term postoperative, and long-term postoperative SNOT-22 scores were 34.6 ± 5.4, 33.9 ± 5.5, and 18.8 ± 4.6, respectively. When analyzing subcategory scores, there was a significant improvement in the rhinologic domain from short-term to long-term postoperatively (13.5 vs. 7.3; p = 0.004), in the non-rhinologic otolaryngic domain from short-term to long-term postoperatively (2.8 vs. 1.7; p = 0.014), and in the psychological domain from preoperative and short-term postoperative to long-term postoperatively (12.2 and 10.0 vs. 6.0; p = 0.015 and 0.01, respectively). Following laser surgery for HHT-related epistaxis, patients' rhinologic symptoms worsened on the short run postoperatively but improved over time. The main benefit of laser treatment appears to be long-term improvement in psychological factors. This study once again underscores the important role of the otolaryngologist in managing sinonasal manifestations of HHT.

Nasal closure for severe hereditary haemorrhagic telangiectasia in 100 patients. The Lund modification of the Young's procedure: a 22-year experience.

INTRODUCTION: Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disease characterized by recurrent epistaxis, mucocutaneous telangiectasia and visceral arteriovenous malformations. The nosebleeds can be life-threatening and in these circumstances, radical treatment is required. METHODS: Since 1994, closure of the nose has been undertaken to prevent severe nasal bleeding in patients meeting specific selection criteria. Outcome data collected on this cohort pre- and post-operatively is available for analysis. RESULTS: From a cohort of 515 HHT patients, 100 have undergone nasal closure, bilateral ab initio in 81%. Fifty patients completed pre- and post-operative epistaxis severity questionnaires and provided information on post-operative problems and 28 completed a Glasgow Benefit Inventory (GBI). Overall most patients derived significant benefit from the procedure with complete cessation of nasal bleeding in 94%, a highly significant improvement in the epistaxis score and a mean GBI score of 53.4. Loss of smell and taste was the most frequent post-operative complaint. CONCLUSION: HHT can be associated with life-threatening epistaxis significantly affecting patients quality of life. Permanent prevention of airflow is associated with complete or near-total cessation of epistaxis in the majority of patients.

Liver transplantation for hereditary hemorrhagic telangiectasia: a systematic review.

AIM: To evaluate the indications, timing and results of liver transplantation in patients affected by hereditary hemorrhagic telangiectasia (HHT), by undertaking a systematic review of the current literature. METHODS: Electronic bibliographical databases were searched on MEDLINE and Pubmed according to the PRISMA criteria. A total of 58 articles were initially found, 11 have been excluded because of single center series later included in the European Liver transplant Registry (ELTR), already reported in this study. Thirty-eight articles have been excluded because they did not report specifically new cases of liver transplantation for hereditary hemorrhagic telangiectasia. Finally 9 articles were included in the analysis. RESULTS: A total of 56 patients who underwent liver transplantation for HHT are present in the English literature. One additional patient is presented in this article, for a total of 57 patients worldwide. To date, the most consistent published series is the one of the ELTR, including patients from 15 liver transplantation centers in the period 1985-2003 with a mean follow-up of 69 months. Ten-year patient and graft survival is 82.5% CONCLUSION: Liver transplantation should be considered as a radical but definitive treatment option in patients affected by HHT with liver or cardiac involvement not responsive to medical treatment.

JP-HHT phenotype in Danish patients with SMAD4 mutations.

Patients with germline mutations in SMAD4 can present symptoms of both juvenile polyposis syndrome (JPS) and hereditary hemorrhagic telangiectasia (HHT): the JP-HHT syndrome. The complete phenotypic picture of this syndrome is only just emerging. We describe the clinical characteristics of 14 patients with SMAD4-mutations. The study was a retrospective, register-based study. SMAD4 mutations carriers were identified through the Danish HHT-registry, the genetic laboratories - and the genetic departments in Denmark. The medical files from relevant departments were reviewed and symptoms of HHT, JPS, aortopathy and family history were noted. We detected 14 patients with SMAD4 mutations. All patients had polyps removed and 11 of 14 fulfilled the diagnostic criteria for JPS. Eight patients were screened for HHT-symptoms and seven of these fulfilled the Curaçao criteria. One patient had aortic root dilation. Our findings support that SMAD4 mutations carriers have symptoms of both HHT and JPS and that the frequency of PAVM and gastric involvement with polyps is higher than in patients with HHT or JPS not caused by a SMAD4 mutation. Out of eight patients screened for aortopathy, one had aortic root dilatation, highlighting the need for additional screening for aortopathy.

Clinical Outcomes of Patients with Severe Hepatic Hereditary Hemorrhagic Telangiectasia After Banding of the Hepatic Artery and Banding/Ligation of Branches of the Hepatic Artery.

OBJECTIVE/BACKGROUND: To evaluate the effectiveness of double banding/ligation of hepatic arteries in treating patients with hepatic hereditary hemorrhagic telangiectasia (HHHT). METHODS: From January 2004 to December 2013, 35 patients were diagnosed with HHHT, among whom 11 woman and two men with a mean ± SD age of 44 ± 9 years were treated by double hepatic artery banding/ligation for cardiac insufficiency and/or portal hypertension. The outcomes were evaluated prospectively by measuring clinical manifestations, imaging features, liver and cardiac function, pulmonary arterial systolic pressure, and post-operative complications. Quality of life was evaluated with the Short Form Health Survey questionnaire. RESULTS: For each patient, the common hepatic artery and one branch of the left and/or right hepatic artery were banded, and other significantly dilated hepatic artery branches were ligated. No patient died after surgery. Clinical symptoms were improved in all patients, although ischemic cholangitis was observed in two patients and treated conservatively. Cardiac function, classified per the New York Heart Association (NYHA) cardiac functional grading, improved (NYHA III-IV vs. NYHA I-II); pulmonary arterial systolic pressure significantly decreased in all patients (48 ± 8 mmHg vs. 24 ± 4 mmHg; P < .001) and remained in the normal range (26 ± 3 mmHg) at the end of follow up. The levels of γ-glutamyl transpeptidase and alkaline phosphatase decreased in 11 patients (144 ± 94 U/L vs. 71 ± 34 U/L; P = .003) and 10 patients (207 ± 71 U/L vs. 105 ± 32 U/L; P = .001), respectively. Patients were followed up for 50 ± 28 months (range 6-113 months); one death resulted from causes unrelated to surgery and all dimensions of quality of life improved in all surviving patients. CONCLUSIONS: This study helps to establish double hepatic artery banding/ligation as an effective therapy for selected patients with HHHT.

Nd:YAG Laser Treatment for Extranasal Telangiectasias: A Retrospective Analysis of 38 Patients with Hereditary Hemorrhagic Telangiectasia and Review of the Literature.

BACKGROUND/AIMS: Extranasal telangiectasias are common amongst hereditary hemorrhagic telangiectasia (HHT) patients. Telangiectasias can be found at sites like the external nose, lips, oral cavity and fingers. Although not life threatening, they can be annoying for patients and lead to bleeding in some cases, necessitating treatment. METHODS: The data of 38 HHT patients treated for extranasal telangiectasias during a period of 10 years by means of Nd:YAG laser were retrospectively analyzed. RESULTS: The telangiectasias treated affected predominantly the tongue, facial skin and lips. During a minimum follow-up of 3 years, only 7 patients required a revision of surgery. CONCLUSION: This study shows that Nd:YAG laser constitutes a fast, safe and efficient therapeutic modality for the treatment of extranasal telangiectasias.

Hereditary haemorrhagic telangiectasia manifesting as subdural empyema.

Hereditary haemorrhagic telangiectasia (HHT) also known as Osler-Weber-Rendu disease is a rare autosomal dominant condition causing vascular dysplasia. Cerebral abscess formation, secondary to paradoxical septic emboli via HHT-derived pulmonary arteriovenous malformations (pAVMs) in this context is well documented. Herein, we present the first case of subdural empyema with this aetiology.

Laser applications for benign oral lesions.

BACKGROUND AND OBJECTIVE: Different subspecialists treat benign intraoral lesions using various approaches including surgical excision, medical therapy, sclerotherapy, and laser photocoagulation. The goal of this study was to establish whether lasers could effectively target and destroy oral lesions containing endogenous chromophores, while minimizing injury to unaffected adjacent tissues and critical structures. MATERIALS AND METHODS: This retrospective study involved 26 cases of benign oral lesions, both vascular and pigmented, which were addressed by means of selective laser treatment. Pathologies were port-wine stains, hereditary hemorragic teleangectasia, hemangiomas, venous and arteriovenous malformations, pyogenic granuloma, and hairy reconstructive flaps. Electronic medical records and photographic documentation were reviewed. Three blinded staff personnel not involved with patient care in this study evaluated photographs taken prior to the first and after the final laser treatments. Observers rated the percentage clearance of the lesions or the ablation of bleeding, and the assessed values were averaged for each patient. RESULTS: An average of 30-95% lightening was observed in the intraoral port-wine stains, 90% in the hemangiomas, 70% in arteriovenous malformations, 81% for venous malformations, 86% for venous lakes, and 100% for the pyogenic granuloma. Bleeding was ablated in all hereditary hemorrhagic telangiectasia lesions treated using the pulsed dye laser with or without the Alexandrite laser. Intraoral hair growing on the skin paddle of microvascular flaps was completely removed in one of the three cases treated using the Alexandrite laser. In the two remaining cases, some hair removal was achieved, but because the residual hairs were grey or white (absence of melanocytic chromophore), photocoagulation was less effective. CONCLUSION: Lasers are a safe and effective means to selectively destroy specific chromphores. Such specific targeting ensures complete destruction of pathological tissue, decreasing the possibility of relapse and/or recurrence. Selective laser treatment of benign intraoral lesions represents a niche application that fills a gap in the multidisciplinary management of several conditions such as oral vascular anomalies and hairy reconstructive flaps.

Redo cardiac surgery for active prosthetic valve endocarditis associated with hereditary hemorrhagic telangiectasia: report of a case.

Hereditary hemorrhagic telangiectasia (HHT) is caused by an autosomal dominant gene and characterized by multiple arteriovenous malformations in several organs, leading to bleeding or shunting. These patients often suffer severe infections and heart failure, which should be managed in the perioperative period, when open heart surgery is indicated. We report a case of successful aortic root replacement for active prosthetic valve endocarditis and ventricular septal perforation in a patient with HHT, who had severe heart failure.

Treatment of the skin manifestations of hereditary hemorrhagic telangiectasia with pulsed dye laser.

Hereditary hemorrhagic telangiectasia (HHT) is a familial disorder, in which variably sized arteriovenous malformations develop in the skin, respiratory tract, central nervous system, and gastrointestinal and urogenital tracts. Bleeding is a major problem in the abnormal vessels, primarily in the nose and internal lesions. Skin lesions, in contrast, do not generally bleed spontaneously but pose a significant cosmetic concern. The lesions are characteristically small caliber vessels located in the dermis. As such, they are ideal targets for vascular lesions. Eight patients with cutaneous facial lesions of HHT were treated by pulsed dye laser. All patients exhibited excellent (75-100%) clearance after a mean of 2.6 treatments (range 1-8). In comparison, a control group of patients with non-HHT facial telangiectasia required a mean of 1.9 (range 1-5; p < 0.05) treatments. No adverse events were reported in either group. The study confirms the safety and efficacy of PDL in the management of the cutaneous lesions of HHT.

Postoperative Pain Following Coblation of Sinonasal Hereditary Hemorrhagic Telangiectasias.

BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is a rare, autosomal dominant disease and epistaxis is the most common symptom. This can be treated conservatively but severe cases may require operative interventions. Endoscopic endonasal coblation of HHT lesions has been used successfully but postoperative pain management has not been well described. OBJECTIVES: This study aimed to assess levels of postoperative pain and opioid use among patients with HHT who underwent coblation of sinonasal lesions. METHODS: This is a longitudinal, prospective cohort study of adult patients undergoing endoscopic endonasal coblation for treatment of HHT lesions with or without bevacizumab injection between November 2019 and March 2020 at a single academic university hospital. Patients were given preoperative questionnaires and contacted via telephone 48 hours after surgery. If they reported using opioids for pain control, they were called every 2 days until they no longer used these medications. RESULTS: Fourteen cases, including 13 unique patients, were included in this study. Opioids were ordered on discharge in 4 cases and the average morphine milligram equivalent prescribed on discharge was 41. The median pain score on postoperative day (POD) 2 was 4 of 10. Twelve patients reported using acetaminophen and 4 were using opioid pain medications. Of those using opioid pain medications, only 1 patient was using opioid pain medication by POD 4 and denied any use after POD 10. CONCLUSION: This study is the first to analyze postoperative pain management and opioid prescribing patterns in HHT patients undergoing endonasal coblation of telangiectasias. Postoperative pain was mild to moderate and most patients stopped using opioid medications by POD 4, although the majority of patients solely used acetaminophen. Future studies with increased sample size will be useful to further identify predictors of need for analgesics postoperatively and other non-opioid adjuncts for pain control.

Usefulness of endoscopic endonasal underwater surgery using a combination of coblation and a lens-cleaning system for hemostasis in hereditary hemorrhagic telangiectasia.

Hemostatic procedures for controlling nasal bleeding in refractory diseases such as hereditary hemorrhagic telangiectasia (HHT) can be challenging. In this report, we present a novel technique for underwater endoscopic endonasal hemostatic surgery, which was performed on a 69-year-old man with HHT. The patient had been experiencing frequent episodes of nasal bleeding and had many telangiectasias in the nasal cavity, which were the cause of the bleeding. These telangiectasias were effectively treated using a coblation device in combination with an endoscope lens-cleaning system that supplied saline to create stable underwater conditions. There are several advantages to this technique, including provision of a stable and clear endoscopic field of view, allowing for better visualization of the surgical site. This makes it easier to identify bleeding points and ensure accurate hemostasis. Additionally, the hydrostatic pressure created by the underwater environment helps to reduce bleeding during the procedure. However, it is important to take careful precautions to prevent water from entering the lower airway. With this precautionary measure, this technique is particularly useful in managing bleeding in patients with HHT.

Liver resection in patients with hepatic hereditary hemorrhagic telangiectasia.

BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Rendu-Weber disease, is a rare genetic disorder characterized by widespread telangiectasia and vascular malformations involving the liver in most of the cases. The consequences of this pathologically underlying parenchyma on liver resection have been poorly described. METHODS: More than 2,000 liver resections were performed at our institution over a 14-year period, whereby 2 major hepatectomies for malignancy were performed on patients with HHT with liver involvement. In addition, a systematic search was performed in the PubMed database to identify all original articles on hepatectomy in patients with HHT. RESULTS: The first patient underwent a left hepatectomy for cholangiocarcinoma with an uneventful postoperative course. The second patient underwent right hepatectomy and segment 3 resection for colorectal liver metastases. The postoperative course was marked by ascites without liver failure. For both patients, 90-day mortality was nil. CONCLUSION: In selected HHT patients with liver involvement, liver resections, including major hepatectomies, can be safely performed. Specific attention should be paid to postoperative liver function and ascites.

Iron deficiency anaemia over the last decades - Osler's disease diagnosed by Doppler and contrast-enhanced ultrasound.

CASE REPORT: A 72-year-old woman with a 30-year history of iron deficiency anaemia was admitted for fatigue and increasing weakness. On physical examination, the patient appeared dyspneic and pallor. The tongue showed angiodysplasias. Laboratory analysis showed a microcytary anaemia with an iron deficiency. Firstly a routine ultrasound examination (iU22, Philips Medical Systems) was performed. A left accessory artery, a dilated common hepatic artery and ectatic tortuous intrahepatic liver arteries were found. A contrast-enhanced ultrasound (CEUS) detected two intrahepatic arteriosystemic shunts in the left liver lobe. Endoscopy revealed multiple angiodysplasias of the stomach and the duodenum, 4 isolated angiodysplasias in the colon and telangiectasias in the oropharyngeal region. The angiodysplasias were treated with argon plasma coagulation. Osler's disease was diagnosed based on the Curacao criteria. CONCLUSION: Transabdominal B-mode sonography in combination with colour Doppler, pulsed wave Doppler and contrast-enhanced ultrasound is a very important tool to detect hepatic vascular malformations. It is an excellent procedure for the screening of patients with an iron deficiency anaemia. For the first time, we have demonstrated CEUS as an additional approach in the diagnosis of liver involvement in patients with Osler's disease.