hereditary haemorrhagic telangiectasia

We report a case of hypoplastic left heart syndrome and with subsequent aortopathy and then found to have hereditary haemorrhagic telangiectasia/juvenile polyposis syndrome due to a germline SMAD4 pathologic variant. The patient's staged palliation was complicated by the development of neoaortic aneurysms, arteriovenous malformations, and gastrointestinal bleeding thought to be secondary to Fontan circulation, but workup revealed a SMAD4 variant consistent with hereditary haemorrhagic telangiectasia/juvenile polyposis syndrome...

A primigravida patient, with a history of hereditary haemorrhagic telangiectasia (HHT) manifesting as nasal angiodysplasia and hepatic arteriovenous malformations (AVM), presented for delivery planning and anaesthetic evaluation at 29 weeks of gestation. She was hospitalised several times during the second and third trimester for serious recurrent epistaxis, leading to severe anaemia. In total, she required the transfusion of 20 units of packed red blood cells during her pregnancy as well as surgical nasal haemostasis under general anaesthesia (GA)...

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OBJECTIVE: To report our experience in the use of silicone septal splint for recurrent severe epistaxis in hereditary haemorrhagic telangiectasia patients (HHT). METHODS: This is a descriptive analysis carried out at the Otorhinolaryngology Department of Fondazione IRCCS Policlinico San Matteo in Pavia, a reference centre for the treatment and diagnosis of HHT. We retrospectively evaluated HHT patients who underwent silicone septal splint positioning after the endoscopic surgical treatment of epistaxis from 2000 to 2022...

Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant vascular disorder characterized by small, dilated clustered vessels (telangiectasias) and by larger visceral arteriovenous malformations (AVMs), which directly connect the feeding arteries with the draining veins. These lesions are fragile, prone to rupture, and lead to recurrent epistaxis and/or internal hemorrhage among other complications. Germline heterozygous loss-of-function (LOF) mutations in Bone Morphogenic Protein 9 (BMP9) and BMP10 signaling pathway genes (endoglin-ENG, activin like kinase 1 ACVRL1 aka ALK1, and SMAD4) cause different subtypes of HHT (HHT1, HHT2 and HHT-juvenile polyposis (JP)) and have a worldwide combined incidence of about 1:5000...

Disturbances in bone morphogenetic protein (BMP) signalling contribute to onset and development of a number of rare genetic diseases, including Fibrodysplasia ossificans progressiva (FOP), Pulmonary arterial hypertension (PAH), and Hereditary haemorrhagic telangiectasia (HHT). After decades of animal research to build a solid foundation in understanding the underlying molecular mechanisms, the progressive implementation of iPSC-based patient-derived models will improve drug development by addressing drug efficacy, specificity, and toxicity in a complex humanized environment...

Hereditary haemorrhagic telangiectasia (HHT) can result in challenging anaemia and thrombosis phenotypes. Clinical presentations of HHT vary for relatives with identical casual mutations, suggesting other factors may modify severity. To examine objectively, we developed unsupervised machine learning algorithms to test whether haematological data at presentation could be categorised into sub-groupings and fitted to known biological factors. With ethical approval, we examined 10 complete blood count (CBC) variables, four iron index variables, four coagulation variables and eight iron/coagulation indices combined from 336 genotyped HHT patients (40% male, 60% female, 86...

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This large, multinational, sex-based analysis among individuals with HHT showed that pulmonary AVM frequency, physical characteristics, presentation, complications and management do not generally significantly differ between males and females https://bit.ly/3TNLA6v.

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 haemorrhagic telangiectasia, also known as Rendu-Osler-Weber disease, is an autosomal dominant disorder of the fibrovascular tissue common in Western countries. It is characterized by the classical triad of mucocutaneous telangiectasia, arteriovenous malformations with recurrent epistaxis. Here we report a rare case of Hereditary haemorrhagic telangiectasia in a 66-year-old Indian male who presented with a history of recurrent epistaxis of forty years duration. The nasal telangiectasias were ablated under narrow band imaging guidance...

No abstract text is available yet for this article.

No abstract text is available yet for this article.

Hereditary haemorrhagic telangiectasia is a genetic disease, causing abnormal formations of blood vessels in skin, mucus membranes, lungs, liver, and brain. In the liver, the disease results in shunting of blood, bypassing the capillary bed. Recent studies have shown that the prevalence of liver shunts are more frequent than previously suggested. The patients present with symptoms related to high-output cardiac failure causing dyspnoea and oedema. Liver shunts can be shown using CT-scans and ultrasonography...

Percutaneous left atrial appendage closure (LAAC) has proven to be an effective alternative to oral anticoagulation (OAC) for stroke prevention in patients with non-valvular atrial fibrillation (NVAF). International guidelines traditionally recommend LAAC for NVAF patients at high thromboembolic risk and contraindication to or at high risk for OAC. However, there are many other clinical situations in which this procedure may also be beneficial. This paper discusses the potential role of LAAC in specific haemorrhagic diseases (cerebral amyloid angiopathy, age-related macular degeneration, hereditary haemorrhagic telangiectasia, and Moyamoya disease), after left atrial appendage (LAA) electrical isolation, in cases of persistent thrombus inside the LAA, in end-stage renal disease and in special groups of patients for whom low compliance and persistence to OAC may be anticipated...

Hereditary Haemorrhagic Telangiectasia (HHT) causes arteriovenous malformations (AVMs) in multiple organs to cause bleeding, neurological and other complications. HHT is caused by mutations in the BMP co-receptor endoglin. We characterised a range of vascular phenotypes in embryonic and adult endoglin mutant zebrafish and the effect of inhibiting different pathways downstream of VEGF signalling. Adult endoglin mutant zebrafish developed skin AVMs, retinal vascular abnormalities, and cardiac enlargement. Embryonic endoglin mutants develop an enlarged basilar artery (similar to the previously described enlarged aorta and cardinal vein) and larger numbers of endothelial membrane cysts (kugeln) on cerebral vessels...

BACKGROUND: EPHB4 loss of function is associated with type 2 capillary malformation-arteriovenous malformation syndrome, an autosomal dominant vascular disorder. The phenotype partially overlaps with hereditary haemorrhagic telangiectasia (HHT) due to epistaxis, telangiectases and cerebral arteriovenous malformations, but a similar liver involvement has never been described. METHODS: Members of the French HHT network reported their cases of EPHB4 mutation identified after an initial suspicion of HHT...

A 27-year-old female presented at 13 weeks' gestation with epigastric pain and anemia requiring blood and iron transfusions but no family history of gastrointestinal malignancy. Upper endoscopy revealed a giant circumferential polyp and associated hyperplastic-appearing polyps in the proximal stomach. Biopsies revealed hyperplasia with lamina propria eosinophils. She was supported with intermittent transfusions until labor was induced at 34 weeks' gestation. Total gastrectomy was performed at seven weeks post-partum...

A four-year-old boy was newly diagnosed with Hereditary Haemorrhagic Telangiectasia (HHT) based on cascade genetic testing This article is protected by copyright. All rights reserved.

BACKGROUND: Risk factors and outcomes associated with severe epistaxis are not well understood. This study explores the associations between epistaxis severity, comorbidities, use of antiplatelets or anticoagulants and management outcomes. METHODS: This is a retrospective cross-sectional study of all epistaxis cases presenting to the emergency department at a tertiary academic hospital from January 2016 to December 2019. Epistaxis severity was defined as mild (no intervention), moderate (required cautery and/or packing) and severe (clinical instability with reversal products, surgical or radiological intervention)...