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hereditary haemorrhagic telangiectasia

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https://read.qxmd.com/read/30772866/novel-use-of-tranexamic-acid-to-reduce-the-need-for-nasal-packing-in-epistaxis-nopac-randomised-controlled-trial-research-protocol
#1
Adam Reuben, Andrew Appelboam, Andy Barton, Patricia Jane Vickery, Richard Body, Malcolm Hilton, Jason Coppell, Paul Ewings
INTRODUCTION: Patients presenting to emergency departments (EDs) with epistaxis uncontrolled by subsequent simple first aid measures or application of topical vasoconstrictors will typically undergo anterior nasal packing. Packing is effective, but can be extremely painful and unpleasant and patients usually need hospital admission. Tranexamic acid (TXA) is a cheap, safe, readily available antifibrinolytic agent known to be beneficial in a variety of clinical settings where uncontrolled bleeding may be a problem...
February 15, 2019: BMJ Open
https://read.qxmd.com/read/30739085/pulmonary-arteriovenous-malformation-in-hereditary-haemorrhagic-telangiectasia
#2
João Abrantes, Clara Fernandes, Catarina Lima Vieira
No abstract text is available yet for this article.
February 9, 2019: BMJ Case Reports
https://read.qxmd.com/read/30636306/hereditary-haemorrhagic-telangiectasia
#3
Varitsara Mangkorntongsakul, Cecily J Forsyth
No abstract text is available yet for this article.
January 2019: Medical Journal of Australia
https://read.qxmd.com/read/30600115/-mortality-attributed-to-hereditary-haemorrhagic-telangiectasia-and-geographical-variability-in-spain-1981-2016
#4
Angelica Ortega-Torres, Germán Sánchez-Díaz, Ana Villaverde-Hueso, Manuel Posada de la Paz, Verónica Alonso-Ferreira
OBJECTIVE: To identify the mortality directly attributed to hereditary haemorrhagic telangiectasia (HHT) in Spain, and to analyze its time trends and geographic variability. METHOD: Population-based deaths due to HHT were selected from the Spanish National Statistics Institute: codes 448.0 (ICD-9, 1981-1998) and I78.0 (ICD-10, 1999-2016) as the basic cause of death. Specific and age-adjusted mortality rates were calculated by sex, as well as standardized mortality ratios (SMR) by province and district, and smoothed SMR...
December 29, 2018: Gaceta Sanitaria
https://read.qxmd.com/read/30596371/orthotopic-liver-transplantation-for-hereditary-hemorrhagic-telangiectasia-and-men-type-i-syndrome-case-report-and-review-of-literature
#5
Mihnea-Ioan Ionescu, Ian David Edwin, Colin Hugh Wilson, Samantha Erica Saikia, David Talbot
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...
November 2018: Chirurgia
https://read.qxmd.com/read/30560015/uptake-and-radiological-findings-of-screening-cerebral-magnetic-resonance-scans-in-patients-with-hereditary-haemorrhagic-telangiectasia
#6
Gavin Fatania, Clare Gilson, Alan Glover, Ali Alsafi, James E Jackson, Maneesh C Patel, Claire L Shovlin
Hereditary haemorrhagic telangiectasia (HHT) results in arteriovenous malformations (AVMs), most commonly in the lungs, liver and brain. Discussion of cerebral vascular malformations is an important element of patient management. The current study objectives were to examine uptake and results of screening cerebral magnetic resonance (MR) scans, excluding symptomatic patients requiring neurological investigations. The remaining non-symptomatic individuals received formal pretest counselling that differed according to family history...
November 2018: Intractable & Rare Diseases Research
https://read.qxmd.com/read/30547819/comorbidity-among-hht-patients-and-their-controls-in-a-20-years-follow-up-period
#7
Katrine Saldern Aagaard, Anette Drøhse Kjeldsen, Pernille Mathiesen Tørring, Anders Green
BACKGROUND: Hereditary Haemorrhagic Telangiectasia (HHT) is an autosomal dominant genetic disorder with a wide variety of clinical manifestations due to the presence of multiple arteriovenous malformations in various tissues and organs. OBJECTIVE: To study the need for hospital admittance in a group of HHT patients and matched controls during a 20 years follow-up period commencing in 1995. METHODS: All HHT patients in the County of Funen, Denmark, were included...
December 14, 2018: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/30502301/medical-management-of-haemorrhagic-hereditary-telangiectasia-in-adult-patients
#8
REVIEW
Antoni Riera-Mestre, Jesús Ribas, José Castellote
Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant inherited Rare Disease that causes a systemic anomalous vascular overgrowth. The approach and follow-up of these patients should be from multidisciplinary units. Its diagnosis is carried out according to Curaçao clinical Criteria. Telangiectasia in the nasal mucosa cause recurrent epistaxis, the main symptom of HHT and difficult to control. The three types of hepatic shunting, hepatic artery to hepatic vein, hepatic artery to portal vein or to portal vein to hepatic vein, can cause high-output heart failure, portal hypertension or porto-systemic encephalopathy, respectively...
November 27, 2018: Medicina Clínica
https://read.qxmd.com/read/30337360/low-serum-haptoglobin-and-blood-films-suggest-intravascular-haemolysis-contributes-to-severe-anaemia-in-hereditary-haemorrhagic-telangiectasia
#9
Lieze Thielemans, D Mark Layton, Claire L Shovlin
No abstract text is available yet for this article.
October 18, 2018: Haematologica
https://read.qxmd.com/read/30336550/pulmonary-arterial-hypertension-and-hereditary-haemorrhagic-telangiectasia
#10
REVIEW
Veronique M M Vorselaars, Anna E Hosman, Cornelis J J Westermann, Repke J Snijder, Johannes J Mager, Marie-Jose Goumans, Marco C Post
Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant inherited disease characterised by multisystemic vascular dysplasia. Heritable pulmonary arterial hypertension (HPAH) is a rare but severe complication of HHT. Both diseases can be the result of genetic mutations in ACVLR1 and ENG encoding for proteins involved in the transforming growth factor-beta (TGF-β) superfamily, a signalling pathway that is essential for angiogenesis. Changes within this pathway can lead to both the proliferative vasculopathy of HPAH and arteriovenous malformations seen in HHT...
October 17, 2018: International Journal of Molecular Sciences
https://read.qxmd.com/read/30295705/hereditary-haemorrhagic-telangiectasia-with-multiple-complications-presenting-in-an-older-patient
#11
Rano Abdulla Kyzy, Victoria Durojaiye, Jason Leo Walsh
Hereditary haemorrhagic telangiectasia (HHT) is a rare autosomal dominant multi-organ vascular disorder associated with bleeding and a reduced life expectancy. We present a 91-year-old woman with complications of previously undiagnosed HHT. This case demonstrates three potential complications: pulmonary arteriovenous malformation (AVM) resulting in a right to left shunt, cerebral infarctions and pericardial effusion. Despite these potentially life-threatening complications and the reduced life-expectancy associated with HHT the patient has survived to an advanced age...
October 5, 2018: Age and Ageing
https://read.qxmd.com/read/30288899/absence-of-renal-phenotype-in-hereditary-haemorrhagic-telangiectasia
#12
Lachlan Healy, Kathleen Nicholls, Robert Gibson, Damien Stella, Michael Bogwitz, Jessica Taylor, Maie Walsh, Liz Donaldson, Ingrid Winship
Hereditary haemorrhagic telangiectasia is characterised by abnormal blood vessel formation, producing telangiectasia and arteriovenous malformations in multiple organs. Information regarding possible renal involvement in hereditary haemorrhagic telangiectasia is limited. This study assessed renal structure and function in 11 patients with genetically confirmed diagnosis and known arteriovenous malformations in lung, liver, gastrointestinal tract or brain. All had significant current or past epistaxis. Despite the vascularity of the kidneys, we found no evidence of renal involvement...
October 2018: Internal Medicine Journal
https://read.qxmd.com/read/30251589/mutations-in-the-eng-acvrl1-and-smad4-genes-and-clinical-manifestations-of-hereditary-haemorrhagic-telangiectasia-experience-from-the-center-for-osler-s-disease-uppsala-university-hospital
#13
Torbjörn Karlsson, Honar Cherif
AIM: The aim of this retrospective single-centre study was to evaluate whether mutations in the ENG, ACVRL1, and SMAD4 genes were associated with different phenotypes in hereditary haemorrhagic telangiectasia (HHT). METHODS: The case records of 21 HHT patients with verified mutations in ENG, ACVRL1, or SMAD4 genes were reviewed. The numbers of HHT diagnostic criteria fulfilled for the three genotypes were compared, as was the prevalence of complications such as iron deficiency anaemia, gastrointestinal haemorrhage, stroke, and cerebral abscess...
September 2018: Upsala Journal of Medical Sciences
https://read.qxmd.com/read/30244195/genome-sequencing-reveals-a-deep-intronic-splicing-acvrl1-mutation-hotspot-in-hereditary-haemorrhagic-telangiectasia
#14
Whitney L Wooderchak-Donahue, Jamie McDonald, Andrew Farrell, Gulsen Akay, Matt Velinder, Peter Johnson, Chad VanSant-Webb, Rebecca Margraf, Eric Briggs, Kevin J Whitehead, Jennifer Thomson, Angela E Lin, Reed E Pyeritz, Gabor Marth, Pinar Bayrak-Toydemir
INTRODUCTION: Hereditary haemorrhagic telangiectasia (HHT) is a genetically heterogeneous disorder caused by mutations in the genes ENG , ACVRL1 , and SMAD4. Yet the genetic cause remains unknown for some families even after exhaustive exome analysis. We hypothesised that non-coding regions of the known HHT genes may harbour variants that disrupt splicing in these cases. METHODS: DNA from 35 individuals with clinical findings of HHT and 2 healthy controls from 13 families underwent whole genome sequencing...
September 22, 2018: Journal of Medical Genetics
https://read.qxmd.com/read/30232072/severe-pulmonary-hypertension-associated-with-hepatic-arteriovenous-malformation-in-a-patient-with-hereditary-haemorrhagic-telangiectasia
#15
Sakolwat Montrivade, Patinya Maneesow, Thamonwan Osotthanakorn, Pairoj Chattranukulchai
We report a case of 46-year-old Asian woman with a history of recurrent epistaxis who presented with dyspnoea on exertion. Physical examination revealed mucocutaneous telangiectasias and signs of heart failure. Further evaluation showed huge hepatic arteriovenous malformation and severe pulmonary hypertension. This case demonstrates an uncommon manifestation of hereditary haemorrhagic telangiectasia presented with severe pulmonary hypertension.
September 18, 2018: BMJ Case Reports
https://read.qxmd.com/read/30191780/the-use-of-thalidomide-therapy-for-refractory-epistaxis-in-hereditary-haemorrhagic-telangiectasia-systematic-review
#16
L Harrison, A Kundra, P Jervis
BACKGROUND: Hereditary haemorrhagic telangiectasia is an autosomal dominant condition, characterised by mucocutaneous telangiectasia, aneurysm and arteriovenous malformations. Thalidomide has been used as a therapeutic strategy for refractory epistaxis in hereditary haemorrhagic telangiectasia patients. This review set out to examine the evidence for using thalidomide in the management of refractory epistaxis in hereditary haemorrhagic telangiectasia patients. METHODS: A systematic search of the available literature was performed using Medline, Embase, Cochrane Library and NHS Evidence databases, from inception to December 2017...
October 2018: Journal of Laryngology and Otology
https://read.qxmd.com/read/30111344/european-reference-network-for-rare-vascular-diseases-vascern-outcome-measures-for-hereditary-haemorrhagic-telangiectasia-hht
#17
Claire L Shovlin, Elisabetta Buscarini, Anette D Kjeldsen, Hans Jurgen Mager, Carlo Sabba, Freya Droege, Urban Geisthoff, Sara Ugolini, Sophie Dupuis-Girod
Hereditary haemorrhagic telangiectasia (HHT) is a multisystemic vascular dysplasia that leads to nosebleeds, anaemia due to blood loss, and arteriovenous malformations (AVMs) in organs such as the lungs, liver and brain. HHT is estimated to affect 85,000 European citizens, but most health care providers have limited prior HHT exposure or training.Outcome Measures were developed and implemented by the HHT Working Group of the European Reference Network for Rare Vascular Diseases (VASCERN), in order to maximise the number of patients receiving good care...
August 15, 2018: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/30086858/pulmonary-arteriovenous-malformations-a-radiological-and-clinical-investigation-of-136-patients-with-long-term-follow-up
#18
P E Andersen, P M Tørring, S Duvnjak, O Gerke, H Nissen, A D Kjeldsen
AIM: To assess the clinical outcome of patients with and without hereditary haemorrhagic telangiectasia (HHT) after embolisation of pulmonary arteriovenous malformations (PAVM) from a single national centre. MATERIALS AND METHODS: The present register-based observational study including all patients with PAVM treated with embolisation at a reference centre for HHT and PAVM was undertaken over a 20-year period. Demographic data, HHT genotyping, clinical presentation, and outcome were registered...
November 2018: Clinical Radiology
https://read.qxmd.com/read/30040069/the-impact-of-small-bowel-endoscopy-in-patients-with-hereditary-hemorrhagic-telangiectasia
#19
Stefania Chetcuti Zammit, David S. Sanders, Mark E. McAlindon, Reena Sidhu
No abstract text is available yet for this article.
November 13, 2018: Turkish Journal of Haematology: Official Journal of Turkish Society of Haematology
https://read.qxmd.com/read/29720405/-smad4-dpc4
#20
REVIEW
Aoife J McCarthy, Runjan Chetty
Smad4 or DPC4 belongs to a family of signal transduction proteins that are phosphorylated and activated by transmembrane serine-threonine receptor kinases in response to transforming growth factor beta (TGF-β) signaling via several pathways. The gene acts as a tumour suppressor gene and inactivation of smad4/DPC4 is best recognised in pancreatic cancer. However, smad4/DPC4 is also mutated in other conditions and cancers such as juvenile polyposis syndrome with and without hereditary haemorrhagic telangiectasia, colorectal and prostate cancers...
August 2018: Journal of Clinical Pathology
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