Jens Greve, Tamar Kinaciyan, Marcus Maurer, Barbara Dillenburger, Andreas Recke, Clemens Schöffl
{"title":"遗传性血管性水肿预防性治疗专家共识","authors":"Jens Greve, Tamar Kinaciyan, Marcus Maurer, Barbara Dillenburger, Andreas Recke, Clemens Schöffl","doi":"10.1007/s40629-022-00223-8","DOIUrl":null,"url":null,"abstract":"<div><h2>Summary</h2><div><p>Hereditary angioedema (HAE) is a chronic, genetic condition which severely impacts those afflicted with intermittent recurrent vascular edema in mucosal and submucosal tissue or in the dermis and subcutis. These swellings adversely impact the wellbeing of patients, both physically and emotionally. Depending on the location, patients present to doctors in a range of disciplines, and not infrequently misdiagnoses occur, such as appendicitis or an allergy, with subsequent incorrect treatment. An HAE attack can also be life-threatening if larynx is affected. However, medications for treating the more common mast cell-induced angioedema are not effective in HAE. Correct diagnosis of the condition, which often first appears in childhood or adolescence, is therefore essential for effective treatment. De novo mutations where the family history is negative are particularly challenging here. However, a range of new treatment options can help HAE patients by preventing attacks and alleviating the burden of the disease. In this review, we summarize the symptoms experienced by patients with HAE as a result of their condition, but also as a result of misdiagnoses and incorrect treatments, as well as the role of preventive treatment (long-term prophylaxis) in improving the quality of life of those affected and their families. In addition, we provide specific information about how HAE can be detected at an early stage in order to be able to refer patients to experts as soon as possible. With reference to the recommendations of the updated WAO/EAACI guidelines (2022), we argue for a stronger role for long-term prophylaxis and the promotion of modern, patient-centered management of HAE using patient-reported outcome measures (PROMs) to manage quality of life and the burden of the disease.</p></div></div>","PeriodicalId":37457,"journal":{"name":"Allergo Journal International","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2022-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://link.springer.com/content/pdf/10.1007/s40629-022-00223-8.pdf","citationCount":"1","resultStr":"{\"title\":\"Expert consensus on prophylactic treatment of hereditary angioedema\",\"authors\":\"Jens Greve, Tamar Kinaciyan, Marcus Maurer, Barbara Dillenburger, Andreas Recke, Clemens Schöffl\",\"doi\":\"10.1007/s40629-022-00223-8\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><h2>Summary</h2><div><p>Hereditary angioedema (HAE) is a chronic, genetic condition which severely impacts those afflicted with intermittent recurrent vascular edema in mucosal and submucosal tissue or in the dermis and subcutis. These swellings adversely impact the wellbeing of patients, both physically and emotionally. Depending on the location, patients present to doctors in a range of disciplines, and not infrequently misdiagnoses occur, such as appendicitis or an allergy, with subsequent incorrect treatment. An HAE attack can also be life-threatening if larynx is affected. However, medications for treating the more common mast cell-induced angioedema are not effective in HAE. Correct diagnosis of the condition, which often first appears in childhood or adolescence, is therefore essential for effective treatment. De novo mutations where the family history is negative are particularly challenging here. However, a range of new treatment options can help HAE patients by preventing attacks and alleviating the burden of the disease. In this review, we summarize the symptoms experienced by patients with HAE as a result of their condition, but also as a result of misdiagnoses and incorrect treatments, as well as the role of preventive treatment (long-term prophylaxis) in improving the quality of life of those affected and their families. In addition, we provide specific information about how HAE can be detected at an early stage in order to be able to refer patients to experts as soon as possible. With reference to the recommendations of the updated WAO/EAACI guidelines (2022), we argue for a stronger role for long-term prophylaxis and the promotion of modern, patient-centered management of HAE using patient-reported outcome measures (PROMs) to manage quality of life and the burden of the disease.</p></div></div>\",\"PeriodicalId\":37457,\"journal\":{\"name\":\"Allergo Journal International\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2022-09-02\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://link.springer.com/content/pdf/10.1007/s40629-022-00223-8.pdf\",\"citationCount\":\"1\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Allergo Journal International\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://link.springer.com/article/10.1007/s40629-022-00223-8\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Allergo Journal International","FirstCategoryId":"1085","ListUrlMain":"https://link.springer.com/article/10.1007/s40629-022-00223-8","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"Medicine","Score":null,"Total":0}
Expert consensus on prophylactic treatment of hereditary angioedema
Summary
Hereditary angioedema (HAE) is a chronic, genetic condition which severely impacts those afflicted with intermittent recurrent vascular edema in mucosal and submucosal tissue or in the dermis and subcutis. These swellings adversely impact the wellbeing of patients, both physically and emotionally. Depending on the location, patients present to doctors in a range of disciplines, and not infrequently misdiagnoses occur, such as appendicitis or an allergy, with subsequent incorrect treatment. An HAE attack can also be life-threatening if larynx is affected. However, medications for treating the more common mast cell-induced angioedema are not effective in HAE. Correct diagnosis of the condition, which often first appears in childhood or adolescence, is therefore essential for effective treatment. De novo mutations where the family history is negative are particularly challenging here. However, a range of new treatment options can help HAE patients by preventing attacks and alleviating the burden of the disease. In this review, we summarize the symptoms experienced by patients with HAE as a result of their condition, but also as a result of misdiagnoses and incorrect treatments, as well as the role of preventive treatment (long-term prophylaxis) in improving the quality of life of those affected and their families. In addition, we provide specific information about how HAE can be detected at an early stage in order to be able to refer patients to experts as soon as possible. With reference to the recommendations of the updated WAO/EAACI guidelines (2022), we argue for a stronger role for long-term prophylaxis and the promotion of modern, patient-centered management of HAE using patient-reported outcome measures (PROMs) to manage quality of life and the burden of the disease.
期刊介绍:
Allergo Journal International is the official Journal of the German Society for Applied Allergology (AeDA) and the Austrian Society for Allergology and Immunology (ÖGAI). The journal is a forum for the communication and exchange of ideas concerning the various aspects of allergy (including related fields such as clinical immunology and environmental medicine) and promotes German allergy research in an international context. The aim of Allergo Journal International is to provide state of the art information for all medical and scientific disciplines that deal with allergic, immunological and environmental diseases. Allergo Journal International publishes original articles, reviews, short communications, case reports, and letters to the editor. The articles cover topics such as allergic, immunological and environmental diseases, the latest developments in diagnosis and therapy as well as current research work concerning antigens and allergens and aspects related to occupational and environmental medicine. In addition, it publishes clinical guidelines and position papers approved by expert panels of the German, Austrian and Swiss Allergy Societies.
All submissions are reviewed in single-blind fashion by at least two reviewers.
Originally, the journal started as a German journal called Allergo Journal back in 1992. Throughout the years, English articles amounted to a considerable portion in Allergo Journal. This was one of the reasons to extract the scientific content and publish it in a separate journal. Hence, Allergo Journal International was born and now is the international continuation of the original German journal. Nowadays, all original content is published in Allergo Journal International first. Later, selected manuscripts will be translated and published in German and included in Allergo Journal.