Rendu osler syndrome

RATIONALE: Hepatic arteriovenous malformations (HAVMs) are a rare disorder reported in association with hereditary hemorrhagic telangiectasia (HHT), known as Rendu-Osler-Weber syndrome. HAVMs are usually detected in adulthood. PATIENT CONCERNS: A 29-year-old pregnant woman underwent a routine prenatal examination at 37 weeks of pregnancy. DIAGNOSIS AND INTERVENTIONS: There were fetal liver anomalies detected by prenatal ultrasonography and were managed...

Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu disease, is a rare disorder with a case prevalence as high as one in 5000, causing arteriovenous malformations in multiple organ systems. HHT is familial with autosomal dominant inheritance, with genetic testing allowing confirmation of the diagnosis in asymptomatic kindreds. Common clinical manifestations are epistaxis and intestinal lesions causing anemia and requiring transfusions. Pulmonary vascular malformations predispose to ischemic stroke and brain abscess and may cause dyspnea and cardiac failure...

Osler-Weber-Rendu syndrome is an uncommon vascular disorder inherited as an autosomal dominant trait with varying penetrance and expression. A multidisciplinary approach is used for a detailed diagnostic workup and management based on the patient's symptoms at presentation.

Hereditary Hemorrhagic Telangiectasia (HHT) or Rendu-Osler-Weber Syndrome (ROW) is an autosomal dominant vascular disease, with an estimated prevalence of 1:5000. Genes associated with HHT are ACVRL1 , ENG , SMAD4 , and GDF2 , all encoding for proteins involved in the TGFβ/BMPs signaling pathway. The clinical diagnosis of HHT is made according to the "Curaçao Criteria," based on the main features of the disease: recurrent and spontaneous epistaxis, muco-cutaneous telangiectases, arteriovenous malformations in the lungs, liver, and brain, and familiarity...

BACKGROUND: Osler-Weber-Rendu syndrome is characterized by mucocutaneous telangiectasia and arteriovenous malformations in organs. Anesthesia for patients with Osler-Weber-Rendu syndrome is challenging due to complications and physiological changes. CASE PRESENTATION: The case was a 49-year-old female with Osler-Weber-Rendu syndrome, multiple pulmonary arteriovenous malformations and pheochromocytoma who presented for femoral bone head fracture with metastatic adenocarcinoma...

The analysis of publications is carried out and current data concerning the etiology, pathogenesis, diagnosis, and principles of treatment of hereditary hemorrhagic telangiectasia are presented.

BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber syndrome is a bleeding disorder that can affect all parts of the body including the eyes. Different ocular abnormalities have been described in relation to HHT, but the pathogenesis of retinal involvement is still unknown. A few cases have described chorioretinal abnormalities primarily occurring in elderly patients. In this study, we present a unique case of a young female with known HHT and a series of retinal fundus images including optical coherence tomography (OCT) and optical coherence tomography angiography (OCTA) with macular telangiectasia-like lesions...

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Osler Weber Rendu Syndrome (OWS) is characterized by the development of abnormally dilated blood vessels, which manifest as arteriovenous shunts (pulmonary, gastrointestinal, hepatic, and cerebral) and mucocutaneous telangiectasias (lips, tongue, and fingertips). It is an autosomal dominant disease with a defect in transforming growth factor beta superfamily genes. This defect results in increased angiogenesis and disruption of vessel wall integrity. The disease remains underreported, with occasional history of recurrent epistaxis, iron deficiency anemia, and gastrointestinal bleeding in moderate to severe cases...

Hereditary hemorrhagic telangiectasia (HHT), also called Rendu-Osler-Weber syndrome, is a rare autosomal dominant multisystemic vascular disorder, characterized by widespread mucocutaneous teleangiectasias, frequent visceral arteriovenous malformations (AVM) and a tendency for bleeding. This diagnosis should be suspected in all dermatological patients with generalized mucocutaneous vascular lesions at sites of predilection, associated frequent epistaxis and a positive family history. The aim of this paper is to emphasize the importance of a multidisciplinary approach, the role and timely cooperation of dermatologists and otorhinolaryngologists in the early clinical recognition and diagnosis of the disease...

BACKGROUND: Hemorrhagic Hereditary Telangiectasia (HHT), or  Rendu-Osler-Weber syndrome,  is a rare genetic disorder characterized by mucocutaneous telangiectasias and visceral arteriovenous malformations. AIM AND METHODS: We describe the case of a 64-year old woman  in which radiology was useful to interpret an apparently unexplained constellation of symptoms. RESULTS: Brain MRI showing ischemic stroke, pulmonary angiography demonstrating arteriovenous malformations, and capsule endoscopy detecting telangiectasias in the jejunum, along with a clinical history of recurrent epistaxis, allowed us to diagnose HHT...

Hereditary hemorrhagic telangiectasia (HHT) is a rare genetic disorder distinguished by multiple arteriovenous malformations that can affect the liver and lungs, and additionally cause high-output heart failure. Effective medical treatment for HHT-related heart failure is limited. While most types of heart failure are contraindications in liver transplants, HHT-related high-output heart failure is an indication for a liver transplant. However, this is rarely performed as it poses a higher-than-average intraoperative risk...

Hereditary hemorrhagic telangiectasia (HHT), or Rendu-Osler-Weber syndrome, is a dominantly inheritable rare disease with a prevalence of 1:5000-10,000 inhabitants [...].

Introduction Osler-Weber-Rendu syndrome, or hereditary hemorrhagic telangiectasia, is a rare genetic disease that causes recurrent epistaxis and anemia. Numerous bleeding vascular malformations can be found throughout the body. Case presentation A 75-year-old woman presented to her hematologist with recurrent epistaxis, iron deficiency anemia, menorrhagia, and hypothyroidism. Her mother had similar nosebleeds, and physical examination revealed small vascular malformations on the conjunctiva, oropharynx, tongue, lip, and palate...

No abstract text is available yet for this article.

(1) Background: Genetic hereditary hemorrhagic telangiectasia (HHT) is clinically diagnosed. The clinical manifestations and lack of curative therapeutic interventions may lead to mental illnesses, mainly from the depression-anxiety spectrum. (2) Methods: We report the case of a 69-year-old patient diagnosed with HHT and associated psychiatric disorders; a comprehensive literature review was performed based on relevant keywords. (3) Results: Curaçao diagnostic criteria based the HHT diagnosis in our patient case at 63 years old around the surgical interventions for a basal cell carcinoma, after multiple episodes of epistaxis beginning in childhood, but with a long symptom-free period between 20 and 45 years of age...

Hereditary hemorrhagic telangiectasia (HHT), or Rendu-Osler-Weber disease, is a dominant autosomal disease characterized by the presence of multiple telangiectasia in skin and mucus, associated with arteriovenous malformations (AVM) of various organs, including the lungs, gastrointestinal system and brain. HHT is presented most frequently as recurrent, spontaneous epistaxis. Patients may also present digestive, pulmonary and intracranial hemorrhage, as well as secondary anemia. This article reports the case of a female patient, 62 years old, with multiple episodes of epistaxis and vaginal bleeding, with diagnosis of complex HHT, which was managed with multiple embolizations, which improved symptoms and survival...

Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a very rare autosomal dominant genetic disorder that leads to abnormal blood vessel formation in the skin, mucus membranes (called telangiectasia), and organs such as the lung, liver, and brain. It occurs due to a mutation in one of the  ACVRL1 , ENG , and  SMAD4 genes, which code for the formation of blood vessels. The most common symptom is recurring nosebleed (epistaxis; due to rupture of nasal mucosal telangiectasia), which begins in childhood and affects about 90-95% of people with HHT...

BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder, affecting 1:5000 individuals worldwide. All the genes associated to the disease (ENG, ACVRL1, SMAD4, GDF2) belong to the TGF-β/BMPs signaling pathway. We found 19 HHT unrelated families, coming from a Northern Italy region and sharing the ACVRL1 in-frame deletion c.289_294del (p.H97_N98). METHODS: To test the hypothesis of a founder effect, we analyzed 88 subjects from 19 families (66 variant carriers, showing clinical signs of HHT, and 22 non-carriers, unaffected) using eight microsatellite markers within 3...

Pulmonary arteriovenous malformation, also known as an arteriovenous fistula, is typically a congenital disease caused by structural deficiencies, particularly the lack of capillary wall development, leading to the abnormal dilation of the pulmonary capillaries. The majority of pulmonary arteriovenous malformation cases are associated with Rendu-Osler-Weber syndrome, also known as hereditary hemorrhagic telangiectasia. Pulmonary arteriovenous malformation rarely occurs due to chest trauma. Pulmonary arteriovenous malformations are long-lasting and often first diagnosed in adults...