Rendu osler syndrome

BACKGROUND: Both hereditary haemorrhagic telangiectasia (HHT) and juvenile polyposis syndrome (JPS) are known to be caused by SMAD4 pathogenic variants, with overlapping symptoms for both disorders in some patients. Additional connective tissue disorders have also been reported. Here, we describe carriers of SMAD4 variants followed in an HHT reference centre to further delineate the phenotype. METHODS: Observational study based on data collected from the Clinical Investigation for the Rendu-Osler Cohort database...

Hereditary Hemorrhagic Telangiectasia (HHT), commonly known as Osler-Weber-Rendu disease, is an autosomal dominant multisystemic vascular disease associated with approximately 70% of cases of pulmonary arteriovenous malformations (PAVMs). Prenatal cases of PAVMs typically present with pulmonary vein dilatation on ultrasonography. This study presents a prenatal diagnosis of PAVMs with enlarged right pulmonary vein, cardiomegaly, cystic-appearing areas in the right lung and subsequent confirmation of Osler-Weber-Rendu syndrome using autopsy and whole exom sequencing...

Hereditary hemorrhagic telangiectasia (HHT), also called Rendu-Osler syndrome, is a group of rare genetic diseases characterized by autosomal dominance, multisystemic vascular dysplasia, and age-related penetrance. This includes arteriovenous malformations (AVMs) in the skin, brain, lung, liver, and mucous membranes. The correlations between the phenotype and genotype for HHT are not clear. An HHT Chinese pedigree was recruited. Whole exome sequencing (WES) analysis, Sanger verification, and co-segregation were conducted...

Hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber syndrome, is a vascular disorder of autosomal dominant etiology. The hallmark clinical feature is the presence of recurrent episodes of epistaxis in patients with vascular malformations and a tendency to bleed. We present the case of a 71-year-old woman who presented to the emergency department with upper gastrointestinal bleeding caused by esophageal varices, in conjunction with gastric angiodysplasias. The presence of oronasopharyngeal telangiectasias and hepatomegaly raised suspicion of HHT...

Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Rendu-Weber syndrome, is a rare autosomal dominant disorder characterized by vascular malformations. This comprehensive review aimed to provide an overview and summarize various aspects of HHT, including the genetic abnormalities, complications associated with visceral arteriovenous malformations (AVMs), prognosis of HHT, quality of life (QOL), and treatment of epistaxis. In addition, this review highlights the challenges in diagnosing HHT and emphasizes the critical role of otolaryngologists in the early detection of HHT...

BACKGROUND: Hereditary haemorrhagic telangiectasia (HHT), or Rendu-Osler-Weber syndrome, is a rare genetic disorder characterized by the development of telangiectasias and arteriovenous malformations (AVMs) throughout the body. We present a case of percutaneous embolization of pulmonary AVMs in an adult patient. CASE SUMMARY: A 26-year-old male patient with polycythaemia of unknown origin and a family history of secundum atrial septal defect underwent cardiac evaluation which revealed clubbing as a sign of peripheral cyanosis...

Pulmonary hypertension (PH) is a complex disorder that should be managed with a multidisciplinary approach. Although most of the underlying causes of left heart disease can be easily diagnosed with cardiac imaging, some pathologies might necessitate careful investigation to go beyond the obvious. High-output heart failure (HF) due to arteriovenous malformation (AVMs) is an unnoticeable cause for HF and PH. Patients with hepatic AVMs should always be carefully evaluated with regard to hereditary hemorrhagic telangiectasia (HHT) since they can have multiple signs related to the other systems without any symptoms...

Obstetrical management of patients with genetic disorders bears its own challenges in the overall care and outcomes of the patient. Hereditary hemorrhagic telangiectasia (HHT), or Osler-Weber-Rendu Syndrome, is an inherited genetic disorder that, due to the nature of the pathophysiology of arteriovenous malformation and dysplasia, has been highly associated with an increased tendency of bleeding. This case presents a patient diagnosed with HHT prior to pregnancy who developed severe postpartum hemorrhage (PPH) after cesarean section delivery...

Osler-Weber-Rendu syndrome (OWR) is an autosomal dominant disorder characterized by recurrent epistaxis, mucocutaneous or visceral telangiectasias, and arteriovenous malformations in the lungs, liver, brain, and gastrointestinal tract. Hepatic artery aneurysms (HAAs) can also occur in OWR patients. HAAs are the second most common type of visceral artery aneurysm, and mortality rates are high owing to the lack of a tamponade effect. Anatomical variations of the celiacomesenteric vasculature are common, and the most common variation is that of the right hepatic artery originating from the superior mesenteric artery (SMA)...

Hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber syndrome, is a rare autosomal dominant multisystem disorder. It is a mucocutaneous and fibrovascular dysplasia, the diagnosis of which is based on the fulfillment of the four Curaçao criteria: 1) recurrent epistaxis; 2) dermatovascular mucosal telangiectasias at characteristic sites: skin of the face, ears, fingertips, lips, tongue, and oral and nasal cavity; 3) arteriovenous malformations (AVMs) of visceral organs and central nervous system; and 4) family history: diagnosis of HHT in a first-degree relative...

PURPOSE: To describe the molecular diagnosis and atypical ocular presentation of a patient who suffered for a Rendu-Osler-Weber syndrome associated with juvenile polyposis (JP) syndrome. METHODS: This is a case report of a patient that underwent fundus examen, brain Magnetic Resonance Imaging (MRI) and arteriography. Genetic testing was performed by next-generation-sequencing (NGS). RESULTS: A 35-year-old woman presented with right hemiplegia with right homonymous lateral hemianopia and homolateral complete sensory deficit...

Direct communication between dysmorphic arteries and veins without an interceding capillary segment is known as arteriovenous malformation (AVM). Its etiology is still unknown; however, it is commonly acknowledged that it could be related to trauma or is congenital in origin. Often, AVMs are found in the central nervous system or other sites such as under the skin or in the deep solid organs. They can be encountered as a solitary abnormality or associated with another pathology. If they are large enough, they can deprive the neighboring tissue of oxygen, eventually leading to tissue damage and compressing the surrounding organs, causing potentially more serious consequences...

A 43-year-old female patient with a brain abscess and a complicated clinical course was diagnosed with hereditary haemorrhagic telangiectasia (HHT) at the Martin Zeitz Centre for Rare Diseases in Hamburg, Germany. The brain abscess was caused by pulmonary arteriovenous malformations (AVM), a typical finding in HHT. Patients with cryptogenic brain abscess should be screened for pulmonary AVM and HHT. This case report illustrates the importance of patient history and interdisciplinary exchange in patients with a broad clinical spectrum as well as interdisciplinary treatment in the case of complications of rare diseases...

Hereditary hemorrhagic teleangiectasia (HHT), also known as Rendu-Osler-Weber syndrome, is the most common cause of hepatic vascular malformations in adults. Different vascular shunts (arteriovenous, arterioportal or portovenous) lead to different clinical manifestations. Even though no hepatic-related symptoms are reported in the majority of cases, the severity of liver disease could lead to refractory medical conditions, in some cases requiring liver transplantation. The aim of this manuscript is to provide an updated overview of the current evidence regarding the diagnosis and treatment of HHT liver involvement and liver-related complications...

BACKGROUND: Excruciating generalized abdominal pain with features suggestive of shock, at the end of the first or early second week after laparoscopic cholecystectomy (LC), is a frightening and formidable diagnostic predicament. This is because the early known complications like biliary leak or vascular injuries are unlikely diagnoses. Hemoperitoneum, is not usually considered, but instead more common occurrences like acute pancreatitis, choledocholithiasis, and sepsis are suspected. A delay in diagnosis and subsequent management of hemoperitoneum could have disastrous consequences...

This review aimed to provide an overview of pulmonary arteriovenous malformations, including the major clinical and radiological presentations, investigation, and treatment algorithm of the condition. The primary etiology of pulmonary arteriovenous malformations is hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber syndrome, with mutations in the ENG gene on chromosome 9 (HHT type 1) or in the ACVRL1/ALK1 complex (HHT type 2). Epistaxis should always be evaluated when repeated, when associated with anemia, and in some cases of hypoxemia...

OBJECTIVE: Osteomalacia is an uncommon, overlooked and debilitating metabolic bone disease with numerous aetiologies. Herein, we report an atypical cause of osteomalacia - intravenous iron therapy. METHODS: Description of a case report of hypophophatemic osteomalacia induced by ferric carboxymaltose infusions. RESULTS: A 70-year-old male with Rendu-Osler-Weber syndrome requiring repeated infusions of ferric carboxymaltosewas admitted for disabling lower limb pain associated with persistent hypophosphatemia (1...

Hereditary hemorrhagic telangiectasia, also known as Rendu-Osler - Weber disease, is a rare, autosomal dominant vascular disease, with prevalence of 1/5,000. The condition is characterized by muco-cutaneous telangiectasias, which are responsible for a hemorrhagic syndrome of variable severity, as well as arteriovenous malformations (AVMs) appearing in the lungs, the liver, and the nervous system. They can be the source of shunts, which may be associated with high morbidity (neurological ischemic stroke, brain abscess, high-output heart failure, biliary ischemia…)...

An 18-year-old male, previously diagnosed with hereditary hemorrhagic telangiectasia (HHT), presented to the outpatient department with a complaint of generalized seizures and fever for the past five days. He had a history of recurrent epistaxis, progressive shortness of breath, and cyanosis. Magnetic resonance imaging (MRI) of the brain revealed an abscess in the temporoparietal region. A computed angiogram of the pulmonary vasculature showed the presence of arteriovenous malformation (AVM). A four-weekly antibiotic regimen was initiated, which resulted in a profound improvement in symptoms...

The SARS-CoV-2 pandemic has led researchers worldwide to study the patterns of association of SARS-CoV-2 with different diseases, which have been a prime focus of medical literature. Osler-Weber-Rendu syndrome, also known as hereditary hemorrhagic telangiectasia (HHT), is a rare genetic disorder in which patients present with recurrent epistaxis, nostril manipulations, and multiple arteriovenous malformations (AVMs) along with telangiectasias involving internal organs and mucocutaneous areas. In addition, these AVMs are prone to bleeding or act as a nidus for thrombus formation, apart from other serious complications, such as chronic hypoxemia, anemia, pulmonary artery hypertension, heart failure, and cerebrovascular accidents...