Expert consensus on the prophylactic treatment of hereditary angioedema

Hereditary angioedema, or HAE, is a chronic, genetic, and severely debilitating disease with intermittent recurrent vascular edema in mucosal and submucosal tissues or in the dermis and subcutis. These swellings severely affect patients' well-being both physically and emotionally. Depending on the localization, patients present to physicians of different specialties, and it is not uncommon for misdiagnoses such as appendicitis or allergy to occur, with subsequent mistreatment. An HAE attack can also be acutely life-threatening. However, drugs to treat the more common mast cell-mediated angioedema are ineffective in HAE. Correct diagnosis of the disease, which often first appears in childhood or adolescence, is therefore essential for effective treatment. De novo mutations, where family history is negative, are particularly challenging. However, several new treatment options may help HAE patients by preventing attacks and mitigating disease burden. We summarize in this review the burden that patients with HAE face as a result of their disease itself, but also as a result of misdiagnosis and mismanagement, and the role of preventive treatment (long-term prophylaxis) on the quality of life of affected individuals and their families. In addition, we provide specific guidance on how HAE can be detected early in order to refer patients to experts at the earliest possible stage. Referring to the recommendations of the updated WAO/EAACI guideline (2022), we advocate for a stronger role of long-term prophylaxis and the promotion of modern, patient-centered management of HAE using "patient reported outcome measures" (PROMs) to control disease burden and quality of life.