Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia

@article{Faughnan2020SecondIG,
  title={Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia},
  author={Marie E. Faughnan and Johannes Jurgen Mager and Steven W. Hetts and Valerie A. Palda and Kelly Lang-Robertson and Elisabetta Buscarini and Erik Deslandres and Raj S. Kasthuri and Andrea Y. Lausman and David M. Poetker and Felix A Ratjen and Mark S. Chesnutt and Marianne S. Clancy and Kevin J. Whitehead and Hanny Al‐Samkari and Murali M Chakinala and Miles B Conrad and Daniel Cortes and Claudia Crocione and Jama M. Darling and Els de Gussem and Carol Derksen and Sophie Dupuis-Girod and Patrick Foy and Urban Geisthoff and James R. Gossage and Adrienne M. Hammill and Ketil Heimdal and Katharine J. Henderson and Vivek N. Iyer and Anette Dr{\o}hse Kjeldsen and Masaki Komiyama and Kevin Korenblatt and Jamie McDonald and Jack McMahon and Justin P. McWilliams and Mary E. Meek and Meir Mei-Zahav and Scott E. Olitsky and Sara Palmer and Rose Pantalone and Jay F. Piccirillo and Beth Plahn and Mary E.M. Porteous and Marco C. Post and Ivan Radovanovic and Paul J. Rochon and Josanna M. Rodriguez-Lopez and Carlo Sabb{\`a} and Marcelo Mart{\'i}n Serra and Claire L. Shovlin and Dennis Sprecher and Andrew J. White and Ingrid M. Winship and Roberto Zarrabeitia},
  journal={Annals of Internal Medicine},
  year={2020},
  volume={173},
  pages={989 - 1001}
}
DESCRIPTION Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disease with an estimated prevalence of 1 in 5000 that is characterized by the presence of vascular malformations (VMs). These result in chronic bleeding, acute hemorrhage, and complications from shunting through VMs. The goal of the Second International HHT Guidelines process was to develop evidence-based consensus guidelines for the management and prevention of HHT-related symptoms and complications. METHODS… 
Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia
TLDR
The publication of the Second International Hereditary Hemorrhagic Telangiectasia Guidelines is an important development for patients with HHT and their clinical caretakers, but many preconditions for screening described in these publications are not fulfilled.
[Hereditary hemorrhagic telangiectasia: symptoms and diagnostic latency].
TLDR
Patients with hereditary hemorrhagic Telangiectasia suffer from a rare and systemic disease which is characterized by vascular malformations leading to a variety of different symptoms, and antiplatelet or anticoagulant agents can be used in patients with HHT with caution if indicated.
Hereditary hemorrhagic telangiectasia (HHT): a practical guide to management.
TLDR
Clinical course is often complicated by significant epistaxis and/or gastrointestinal bleeding, leading to anemia in half of adult patients with HHT, and the management paradigm has recently shifted from surgical approaches to medical treatments aimed at control of chronic bleeding.
A Rare Case of Hereditary Hemorrhagic Telangiectasia: A Case Report
TLDR
The case of a 22-year-old man from Swabi, Pakistan, with a history of recurrent epistaxis (nosebleed) from childhood, who presented with multiple episodes of melena, fatigue, palpitation, and iron deficiency anemia for five years is presented.
Hereditary Hemorrhagic Telangiectasia: Success of the Osler Calendar for Documentation of Treatment and Course of Disease
TLDR
The Osler Calendar records the individual intensity of the disease and facilitates the communication between attending physicians, and is a tool for specialists to review treatment strategies.
The clinical and genetic features of hereditary haemorrhagic telangiectasia (HHT) in central South Africa-three novel pathogenic variants.
TLDR
It is confirmed the diagnosis of HHT in sixteen patients and identified pathogenic variants in ENG or ACVRL1 in all six probands in central South Africa, where HHT has been underreported.
Pulmonary arteriovenous malformations may be the only clinical criterion present in genetically confirmed hereditary haemorrhagic telangiectasia
TLDR
Retrospectively reviewing 152 unrelated adults with genetically confirmed HHT due to ACVRL1, ENG or SMAD4, it is found that only 104/152 (68%) met a clinical diagnosis of HHT with three Curaçao criteria.
Imaging to intervention: a review of what the Interventionalist needs to Know about Hereditary Hemorrhagic Telangiectasia
TLDR
Clinical manifestations, screening guidelines, diagnostic criteria, and endovascular management of HHT are reviewed.
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References

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International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia
TLDR
The goal of this international HHT guidelines process was to develop evidence-informed consensus guidelines regarding the diagnosis of HHT and the prevention of H HT-related complications and treatment of symptomatic disease.
Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome).
TLDR
A diagnosis of HHT cannot be established in patients with only two criteria, but should be recorded as possible or suspected to maintain a high index of clinical suspicion and to be considered at risk in view of age-related penetration in this disorder.
The prevalence and manifestations of hereditary hemorrhagic telangiectasia in the Afro‐Caribbean population of the Netherlands Antilles: A family screening
TLDR
The point‐prevalence of HHT in the Afro‐Caribbean population of the Netherlands Antilles is the highest known in the world and Pulmonary involvement in this population is not rare and causes serious complications.
Hereditary hemorrhagic telangiectasia patients can tolerate anticoagulation
TLDR
Hereditary hemorrhagic telangiectasia patients can be treated with AT but should be monitored closely given their risk for worsening chronic bleeding and should be screened/treated for pulmonary or cerebral AVMs prior to AT treatment.
A long diagnostic delay in patients with Hereditary Haemorrhagic Telangiectasia: a questionnaire-based retrospective study
TLDR
A systematic inquiry of diagnostic delay in HHT is reported, showing that patients receive a definite diagnosis only after nearly three decades from disease onset, and significantly longer in index patients (first patients who attained definite HHT diagnosis in a given family) than in non-index patients (relative of index patients).
Neurovascular phenotypes in hereditary haemorrhagic telangiectasia patients according to age
TLDR
The purpose of this study was to compare the phenotypes of CNS-manifestations of HHT with the age of the patient, and found there seems to be no relationship between the type of mutation and the phenotype of the disease.
Hereditary hemorrhagic telangiectasia: arteriovenous malformations in children.
Does severe bleeding in HHT patients respond to intravenous bevacizumab? Review of the literature and case series.
TLDR
Based on the literature review and data from the own case series, systemic bevacizumab is very promising as treatment for HHT patients with severe epistaxis and/or GI-bleeding, however, care should be taken using bevazquezumab, a potent angiogenesis inhibitor; long-term side effects have not been studied in this population.
Screening for pulmonary and cerebral arteriovenous malformations in children with hereditary haemorrhagic telangiectasia
TLDR
The present data suggest that children with a definite HHT diagnosis have a high frequency of pulmonary AVMs even when clinically asymptomatic, and genetic testing appears to be useful in defining an at-risk group for pulmonary AVM in childhood.
Complications and mortality in hereditary hemorrhagic telangiectasia
TLDR
Patients with HHT are at substantially increased risk of serious neurologic and hemorrhagic complications of the disease and evaluation of new strategies to improve clinical management is required.
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