TY - JOUR
T1 - Expert consensus on prophylactic treatment of hereditary angioedema
AU - Greve, Jens
AU - Kinaciyan, Tamar
AU - Maurer, Marcus
AU - Dillenburger, Barbara
AU - Recke, Andreas
AU - Schöffl, Clemens
N1 - Publisher Copyright:
© 2022, The Author(s).
PY - 2022/10
Y1 - 2022/10
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85137472252&partnerID=8YFLogxK
U2 - 10.1007/s40629-022-00223-8
DO - 10.1007/s40629-022-00223-8
M3 - Scientific review articles
AN - SCOPUS:85137472252
SN - 2197-0378
VL - 31
SP - 233
EP - 242
JO - Allergo Journal International
JF - Allergo Journal International
IS - 7
ER -