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Annals of Internal Medicine Dec 2020Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disease with an estimated prevalence of 1 in 5000 that is characterized by the presence of vascular...
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
The guidelines were developed using the AGREE II (Appraisal of Guidelines for Research and Evaluation II) framework and GRADE (Grading of Recommendations Assessment, Development and Evaluation) methodology. The guidelines expert panel included expert physicians (clinical and genetic) in HHT from 15 countries, guidelines methodologists, health care workers, health care administrators, patient advocacy representatives, and persons with HHT. During the preconference process, the expert panel generated clinically relevant questions in 6 priority topic areas. A systematic literature search was done in June 2019, and articles meeting a priori criteria were included to generate evidence tables, which were used as the basis for recommendation development. The expert panel subsequently convened during a guidelines conference to conduct a structured consensus process, during which recommendations reaching at least 80% consensus were discussed and approved.
RECOMMENDATIONS
The expert panel generated and approved 6 new recommendations for each of the following 6 priority topic areas: epistaxis, gastrointestinal bleeding, anemia and iron deficiency, liver VMs, pediatric care, and pregnancy and delivery (36 total). The recommendations highlight new evidence in existing topics from the first International HHT Guidelines and provide guidance in 3 new areas: anemia, pediatrics, and pregnancy and delivery. These recommendations should facilitate implementation of key components of HHT care into clinical practice.
Topics: Anemia; Arteriovenous Malformations; Child; Epistaxis; Gastrointestinal Hemorrhage; Genetic Diseases, Inborn; Humans; Liver; Telangiectasia, Hereditary Hemorrhagic
PubMed: 32894695
DOI: 10.7326/M20-1443 -
Indian Journal of Otolaryngology and... Dec 2020To study the age & sex distribution, etiology, formulate most suitable management protocol and evaluate the results of our study and compare our data with similarly...
To study the age & sex distribution, etiology, formulate most suitable management protocol and evaluate the results of our study and compare our data with similarly published studies to look for any changing trends. All the patients presenting with epistaxis who came to our institute, a tertiary care centre of central India were included in the study. The diagnostic confirmation was done with clinical along with radiological and endoscopic evaluation. Various parameters categorized accordingly. Total 304 patients were included in the study. Epistaxis was found prevalent in 1st to 3rd decade, more common in males, frequently seen in cold, anterior epistaxis more common. Trauma and infection being more common in children and young adults, whereas hypertension in the elderly. Although the treatment of epistaxis hasn't change much, we found cauterization to be a very efficient and effective method to control epistaxis and required less hospitalization.
PubMed: 33088778
DOI: 10.1007/s12070-020-01930-w -
Blood Feb 2021Hereditary hemorrhagic telangiectasia (HHT) management is evolving because of the emergence and development of antiangiogenic therapies to eliminate bleeding... (Review)
Review
Hereditary hemorrhagic telangiectasia (HHT) management is evolving because of the emergence and development of antiangiogenic therapies to eliminate bleeding telangiectasias and achieve hemostasis. This progress is reflected in recent clinical recommendations published in the Second International Guidelines for the Diagnosis and Treatment of HHT, in which systemic therapies including antiangiogenics and antifibrinolytics are now recommended as standard treatment options for bleeding. This review highlights the new recommendations especially relevant to hematologists in managing bleeding, anticoagulation, and anemia in patients with HHT.
Topics: Anemia; Angiogenesis Inhibitors; Anticoagulants; Antifibrinolytic Agents; Clinical Trials as Topic; Disease Management; Epistaxis; Erythrocyte Transfusion; Forecasting; Gastrointestinal Hemorrhage; Humans; Immunologic Factors; Iron Deficiencies; Platelet Aggregation Inhibitors; Practice Guidelines as Topic; Prevalence; Standard of Care; Telangiectasia, Hereditary Hemorrhagic; Thrombophilia; Tranexamic Acid
PubMed: 33171488
DOI: 10.1182/blood.2020008739 -
Hematology. American Society of... Dec 2021Hereditary hemorrhagic telangiectasia (HHT), the second most common inherited bleeding disorder, is associated with the development of malformed blood vessels. Abnormal...
Hereditary hemorrhagic telangiectasia (HHT), the second most common inherited bleeding disorder, is associated with the development of malformed blood vessels. Abnormal blood vessels may be small and cutaneous or mucosal (telangiectasia), with frequent complications of bleeding, or large and visceral (arteriovenous malformations [AVMs]), with additional risks that can lead to significant morbidity and even mortality. HHT can present in many different ways and can be difficult to recognize, particularly in younger patients in the absence of a known family history of disease or epistaxis, its most common manifestation. HHT is commonly diagnosed using the established CuraƧao clinical criteria, which include (1) family history, (2) recurrent epistaxis, (3) telangiectasia, and (4) visceral AVMs. Fulfillment of 3 or more criteria provides a definite diagnosis of HHT, whereas 2 criteria constitute a possible diagnosis of HHT. However, these criteria are insufficient in children to rule out disease due to the age-dependent development of some of these criteria. Genetic testing, when positive, can provide definitive diagnosis of HHT in all age groups. Clinical course is often complicated by significant epistaxis and/or gastrointestinal bleeding, leading to anemia in half of adult patients with HHT. The management paradigm has recently shifted from surgical approaches to medical treatments aimed at control of chronic bleeding, such as antifibrinolytic and antiangiogenic agents, combined with aggressive iron replacement with intravenous iron. Guidelines for management of HHT, including screening and treatment, were determined by expert consensus and originally published in 2009 with updates and new guidelines in 2020.
Topics: Adolescent; Anemia; Disease Management; Epistaxis; Female; Gastrointestinal Hemorrhage; Humans; Pregnancy; Pregnancy Complications, Hematologic; Telangiectasia, Hereditary Hemorrhagic
PubMed: 34889398
DOI: 10.1182/hematology.2021000281 -
Seminars in Interventional Radiology Jun 2020Epistaxis is not uncommon, with up to 60% of the population suffering from at least one episode in their lifetime and as many as 6% presenting for medical attention. An... (Review)
Review
Epistaxis is not uncommon, with up to 60% of the population suffering from at least one episode in their lifetime and as many as 6% presenting for medical attention. An analysis of emergency room (ER) visits in the United States between 2009 and 2011 identified 1.2 million encounters for epistaxis, accounting for 0.32% of ER visits. Approximately 6% of patients will require more aggressive, invasive management in the form of transnasal ligation of the sphenopalatine artery or endovascular embolization. This article reviews the epidemiology, rationale for endovascular treatment, strategy for treatment, endovascular technique, postprocedural follow-up, and complications and their management.
PubMed: 32419727
DOI: 10.1055/s-0040-1709156 -
CMAJ : Canadian Medical Association... Oct 2022
Topics: Epistaxis; Humans; Pharyngeal Diseases
PubMed: 36191936
DOI: 10.1503/cmaj.220391