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hereditary haemorrhagic telangiectasia

Claire L Shovlin, Trishan Patel, James E Jackson
Pulmonary AVM embolisation appears to improve nosebleed severity for nearly one in six people with HHT
April 2016: ERJ Open Research
Wei Li, Richard M Salmon, He Jiang, Nicholas W Morrell
Bone morphogenetic protein (BMP)9 and BMP10 are high affinity ligands for activin receptor-like kinase 1 (ALK1), a type I BMP receptor mainly expressed on vascular endothelial cells (ECs). ALK1-mediated BMP9/BMP10 signalling pathways have emerged as essential in EC biology and in angiogenesis. Several genetic mutations in the genes encoding the ligands and receptors of this pathway have been reported in two cardiovascular diseases, pulmonary arterial hypertension (PAH) and hereditary haemorrhagic telangiectasia (HHT)...
August 15, 2016: Biochemical Society Transactions
Françoise Boehlen, Basile N Landis, Laurent Spahr, Anne-Lise Hachulla, Emmanuelle Ranza, Thierry Nouspikel, Frédéric Lador, Kaveh Samii, Stéphane Noble
The Rendu-Osler-Weber disease, also known as hereditary haemorrhagic telangiectasia, is an autosomal dominant inherited disease. Its main manifestations are nosebleeds and digestive tract bleeding due to angiodysplasia. The presence of arteriovenous malformations in organs such as lung, liver, brain, etc. can cause serious complications (haemorrhage, stroke, brain abscess, hypoxemia, increased cardiac output, pulmonary arterial hypertension). Diagnosis is based on clinical criteria and can be confirmed by genetic analysis...
May 25, 2016: Revue Médicale Suisse
S Jervis, D Skinner
OBJECTIVE: To determine whether patients with hereditary haemorrhagic telangiectasia were being screened according to international guidelines, and to review recent evidence in order to provide up-to-date guidelines for the initial systemic management of hereditary haemorrhagic telangiectasia. METHODS: A retrospective case note analysis was conducted, assessing patients in terms of screening for: genetics, cerebral arteriovenous malformations, pulmonary and hepatic arteriovenous malformations, and gastrointestinal telangiectasia...
August 2016: Journal of Laryngology and Otology
Ingrid Kane, Alexandra Pitt Ford, Kirsty Lawton, Marius Poitelea, Nicola Gainsborough
A 21-year-old man presented with an acute ischaemic stroke. He had a history of epistaxis and a family history of hereditary haemorrhagic telangiectasia. We gave thrombolysis after some deliberation, and he made a good neurological recovery. This case highlights the link between hereditary haemorrhagic telangiectasia and ischaemic stroke, the potential risks of thrombolysis in such patients and the need to consider pulmonary arteriovenous malformations in patients with stroke.
October 2016: Practical Neurology
S M Mourad, R Mies, T Frenzel, S Willems, E van der Heijden, L J Schultze Kool
BACKGROUND: The incidence of hereditary haemorrhagic telangiectasia (HHT - Osler-Weber-Rendu disease) in the Netherlands is 1:5000 but approximately 1:1300 in people from the Antilles. The disease is characterised by the development of telangiectasia and arteriovenous malformations (AVMs) that may result in serious morbidity and mortality. CASE DESCRIPTION: A 31-year-old primigravid patient consulted her general practitioner at 31 1/7 weeks gestational age with dyspnoea...
2016: Nederlands Tijdschrift Voor Geneeskunde
Thierry Chinet
No abstract text is available yet for this article.
June 2016: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
Basel Chamali, Helen Finnamore, Richard Manning, Michael A Laffan, Mary Hickson, Kevin Whelan, Claire L Shovlin
Understanding potential provocations of haemorrhage is important in a range of clinical settings, and particularly for people with abnormal vasculature. Patients with hereditary haemorrhagic telangiectasia (HHT) can report haemorrhage from nasal telangiectasia in real time, and suggested dietary factors may precipitate nosebleeds. To examine further, nosebleed severity, dietary supplement use, and blood indices were evaluated in an unselected group of 50 HHT patients recruited from a specialist UK service. Using the validated Epistaxis Severity Score, nosebleed severity ranged from 0 to 9...
May 2016: Intractable & Rare Diseases Research
Diana Chieira, Luis Conceição, Edgar Semedo, Valentina Almeida
Osler-Weber-Rendu syndrome, or hereditary haemorrhagic telangiectasia (HHT), is an autosomal dominant vascular dysplasia characterised by mucocutaneous telangiectases and arteriovenous malformations (AVMs). Diagnosis is clinical and treatment is supportive. The authors demonstrate a safe anaesthetic approach for a patient with HHT. A 53-year-old woman with a left trochanteric fracture was scheduled for urgent orthopaedic surgery. She was diagnosed as having HHT and presented with recurrent epistaxis, telangiectases and gastrointestinal AVMs...
2016: BMJ Case Reports
E M de Gussem, C P Edwards, A E Hosman, C J J Westermann, R J Snijder, M E Faughnan, J J Mager
BACKGROUND: Hereditary Haemorrhagic Telangiectasia (HHT) is an autosomal dominant disease associated with epistaxis, arteriovenous malformations and telangiectasias. Disease complications may result in premature death. METHOD: We investigated life-expectancies of parents of HHT patients compared with their non-HHT partners using self- or telephone-administered questionnaires sent to their children. Patients were extracted from the databases of 2 participating HHT Centres: the Toronto HHT Database (Toronto, Canada) and the St...
2016: Orphanet Journal of Rare Diseases
Sandeep P Solanki, Christopher Taylor, Iain Robertson
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.
June 2016: British Journal of Neurosurgery
Veronique M M Vorselaars, Sebastiaan Velthuis, Repke J Snijder, Cornelis J J Westermann, Jan A Vos, Johannes J Mager, Martijn C Post
Pulmonary arteriovenous malformations (PAVMs) are associated with severe neurological complications in hereditary haemorrhagic telangiectasia (HHT). Transthoracic contrast echocardiography (TTCE) is recommended for screening of pulmonary right-to-left shunts (RLS). Although growth of PAVMs is shown in two small studies, no studies on follow-up with TTCE exist.All HHT patients underwent a second TTCE 5 years after initial screening. Patients with a history of PAVM embolisation were excluded. Pulmonary RLS grade on TTCE after 5 years was compared to the grade at screening...
June 2016: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
Sei-Ichiro Motegi, Masahito Yasuda, Masayoshi Yamanaka, Hiroo Amano, Osamu Ishikawa
Cutaneous collagenous vasculopathy (CCV) is a rare acquired idiopathic microangiopathy characterised by the progressive development of diffuse asymptomatic telangiectasias over the skin. Histologically, the presence of a thick hyaline collagenous wall around the affected capillaries, comprising the accumulation of collagen type IV, is noted. We herein report the case of a 17-year-old Japanese boy with symmetrical patches of diffuse telangiectasias on the bilateral extremities that persisted for 10 months. A histological examination revealed dilated capillaries in the papillary dermis surrounded by thick perivascular deposition of hyaline-like materials, which stained positive for periodic acid-Schiff and collagen type IV...
January 28, 2016: Australasian Journal of Dermatology
Roberto Zarrabeitia, Luisa Ojeda-Fernandez, Lucia Recio, Carmelo Bernabéu, Jose A Parra, Virginia Albiñana, Luisa M Botella
Hereditary haemorrhagic telangiectasia (HHT), or Rendu-Osler-Weber syndrome, is a dominant genetic vascular disorder. In HHT, blood vessels are weak and prone to bleeding, leading to epistaxis and anaemia, severely affecting patients' quality of life. Development of vascular malformations in HHT patients is originated mainly by mutations in ACVRL1/ALK1 (activin receptor-like kinase type I) or Endoglin (ENG) genes. These genes encode proteins of the TGF-β signalling pathway in endothelial cells, controlling angiogenesis...
June 2, 2016: Thrombosis and Haemostasis
A Hosman, C J J Westermann, R Snijder, F Disch, C L Mummery, J J Mager
BACKGROUND: Patients with a hereditary vascular disorder called Rendu-Osler-Weber syndrome (Hereditary Haemorrhagic Telangiectasia, HHT) haemorrhage easily due to weak-walled vessels. Haemorrhage in lungs or brain can be fatal but patients suffer most from chronic and prolonged nosebleeds (epistaxis), the frequency and intensity of which increases with age. Several years ago, it was discovered serendipitously that the drug Thalidomide had beneficial effects on the disease symptoms in several of a small group of HHT patients: epistaxis and the incidence of anaemia were reduced and patients required fewer blood transfusions...
December 2015: Rhinology
Rosangela Invernizzi, Federica Quaglia, Catherine Klersy, Fabio Pagella, Federica Ornati, Francesco Chu, Elina Matti, Giuseppe Spinozzi, Sara Plumitallo, Pierangela Grignani, Carla Olivieri, Raffaella Bastia, Francesca Bellistri, Cesare Danesino, Marco Benazzo, Carlo L Balduini
BACKGROUND: Hereditary haemorrhagic telangiectasia is a genetic disease that leads to multiregional angiodysplasia. Severe recurrent epistaxis is the most common presentation, frequently leading to severe anaemia. Several therapeutic approaches have been investigated, but they are mostly palliative and have had variable results. We aimed to assess the efficacy of thalidomide for the reduction of epistaxis in patients with hereditary haemorrhagic telangiectasia that is refractory to standard therapy...
November 2015: Lancet Haematology
Massimo Franchini, Giuseppe Lippi
No abstract text is available yet for this article.
November 2015: Lancet Haematology
Hanna M Peacock, Vincenza Caolo, Elizabeth A V Jones
Hereditary haemorrhagic telangiectasia (HHT) is characterized by the development of arteriovenous malformations--enlarged shunts allowing arterial flow to bypass capillaries and enter directly into veins. HHT is caused by mutations in ALK1 or Endoglin; however, the majority of arteriovenous malformations are idiopathic and arise spontaneously. Idiopathic arteriovenous malformations differ from those due to loss of ALK1 in terms of both location and disease progression. Furthermore, while arteriovenous malformations in HHT and Alk1 knockout models have decreased NOTCH signalling, some idiopathic arteriovenous malformations have increased NOTCH signalling...
February 1, 2016: Cardiovascular Research
Delphine Gamondès, Salim Si-Mohamed, Vincent Cottin, Sophie Gonidec, Loïc Boussel, Philippe Douek, Didier Revel
OBJECTIVE: To evaluate the value of the diameter of the draining vein of pulmonary arteriovenous malformation (PAVM) on unenhanced chest MDCT in diagnosing reperfusion after percutaneous vaso-occlusion therapy. METHODS: We retrospectively reviewed our long-term experience of patients with hereditary haemorrhagic telangiectasia and selected cases on the following criteria: an initial pulmonary angiogram with embolotherapy of at least one PAVM, a follow-up MDCT examination in the following year followed by a second pulmonary angiogram with embolotherapy if needed...
August 2016: European Radiology
Joanne Rimmer, Valerie J Lund
BACKGROUND: Hereditary haemorrhagic telangiectasia is an autosomal dominant vascular disease characterized by recurrent epistaxis, mucocutaneous telangiectasia and visceral arteriovenous malformations. METHODOLOGY: The genetic basis and pathophysiology of the disease are discussed. Diagnostic criteria and the clinical course of the condition are considered. The current management options, both medical and surgical, are reviewed. CONCLUSIONS: Hereditary haemorrhagic telangiectasia requires specialist treatment for the problems it causes, and is best managed in specialist centres...
September 2015: Rhinology
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