RESUMO
Introduction: Hereditary angioedema (HAE) is a rare hereditary disease with an estimated prevalence of approximately 1 in 50,000. Methods: An online survey was performed between January and June 2021 on a total of 99 HAE patients (with 92 of them aged 15 years and older and 7 of them being parents of patients under the age of 15 years). They were asked about their current situation, with a focus on the disease. Results: The survey results show that HAE has a strong influence on the patients' quality of life. In particular, the anxiety and uncertainty of not knowing when a swelling attack will occur is considered burdensome by the patients. In addition, there can be physical problems during an attack (depending on its severity) that severely burden and limit patients in their everyday lives. Only one-third of the patients surveyed stated that no or only very minor physical limitations occurred during their most recent swelling attack. Almost three-quarters of all patients receive regular treatment at an HAE center. The patients are mostly satisfied with the therapy and particularly with long-term prophylactics (LTPs). When an LTP was used, the frequency and severity of the swelling attacks, and their duration, were significantly lower and/or shorter than when no LTP was used. Discussion: Despite the high level of satisfaction with their current medication, 62% of patients expressed a strong/very strong interest in an oral LTP. In the group of patients already using an LTP, 74% reported a strong/very strong interest in an oral medication for long-term prophylaxis. The simplicity and minimal time involved in LTP use are considered beneficial to patients' quality of life.
RESUMO
BACKGROUND: Hereditary angioedema (HAE) is a rare genetic disorder that leads to recurrent development of mucosal and dermal swelling. It is mediated by bradykinin, and can affect virtually any part of the human body, including the gastrointestinal tract, the extremities, and the laryngeal and pharyngeal regions. Safe and potent drugs are available for acute and prophylactic treatment of HAE. Owing to its unspecific symptoms and unique manifestations, HAE is often misdiagnosed and treated incorrectly. Abdominal edema in particular can resemble appendicitis or cholecystitis, and is therefore often treated with unnecessary surgical procedures. We performed a questionnaire study to quantify this issue. PATIENTS AND METHODS: We designed questionnaires for HAE patients and probands without HAE. The patient-control ratio was chosen at 1 : 2. RESULTS: Compared with the general population, HAE patients are subject to a significantly greater number of invasive diagnostic and therapeutic interventions. Our study showed that the HAE patients were 2.5 times more likely to undergo abdominal surgery (including gynecological and urological procedures) than the individuals without HAE (p = 0.007). The number of operations per patient correlated with the period (number of years) between the onset of symptoms and diagnosis (correlation coefficient 0.511; Spearman). Furthermore, twice as many appendectomies were performed on HAE patients (18.9 % vs. 37.7 %). Our results also showed that the HAE patients were 2.3 times more likely to undergo a gastroscopy than the control group without HAE (p = 0.003). CONCLUSIONS: Patients with rare diseases such as HAE not only suffer from the effects of the disease itself. The conditions are often misdiagnosed for years owing to the general lack of knowledge about such diseases and unspecific manifestations. This leads not only to erroneous and ineffective treatment, but also to needless invasive diagnostic and therapeutic medical procedures. It is therefore important to increase the general knowledge and awareness of orphan diseases such as HAE with a view to improving diagnosis and treatment, minimizing the patients' suffering and enhancing their quality of life.