Dermatological Allergology, Allergie-Centrum-Charité, Department of Dermatology and Allergy, Charité - Universitätsmedizin Berlin, Luisenstraße 2, 10117, Berlin, Germany.
IGES Institut GmbH, Friedrichstraße 180, 10117, Berlin, Germany.
Orphanet J Rare Dis. 2020 Aug 26;15(1):221. doi: 10.1186/s13023-020-01506-5.
Hereditary angioedema (HAE) is a rare genetic disease and characterized by clinical features such as paroxysmal, recurrent angioedema of the skin, the gastrointestinal tract, and the upper airways. Swelling of the skin occurs primarily in the face, extremities and genitals. Gastrointestinal attacks are accompanied by painful abdominal cramps, vomiting and diarrhea. Due to the low prevalence and the fact that HAE patients often present with rather unspecific symptoms such as abdominal cramps, the final diagnosis is often made after a long delay. The aim of this German-wide survey was to characterize the period between occurrence of first symptoms and final diagnosis regarding self-perceived health, symptom burden and false diagnoses for patients with HAE.
Overall, 81 patients with HAE were included and participated in the telephone-based survey. Of those, the majority reported their current health status as "good" (47.5%) or "very good" (13.8%), which was observed to be a clear improvement compared to the year before final diagnosis ("good" (16.3%), "very good" (11.3%)). Edema in the extremities (85.2%) and in the gastrointestinal tract (81.5%) were the most currently reported symptoms and occurred earlier than other reported symptoms (mean age at onset 18.1 and 17.8 years, respectively). Misdiagnoses were observed in 50.6% of participating HAE patients with appendicitis and allergy being the most frequently reported misdiagnoses (40.0 and 30.0% of those with misdiagnosis, respectively). Patients with misdiagnosis often received mistreatment (80.0%) with pharmaceuticals and surgical interventions as the most frequently carried out mistreatments (65.6 and 56.3% of those with mistreatment, respectively). The mean observed diagnostic delay was 18.1 years (median 15.0 years). The diagnostic delay was higher in older patients and index patients.
This study showed that self-perceived status of health for patients is much better once the final correct diagnosis has been made and specific treatment was available. Further challenge in the future will still be to increase awareness for HAE especially in settings which are normally approached by patients at occurrence of first symptoms to assure early referral to specialists and therefore increase the likelihood of receiving an early diagnosis.
遗传性血管性水肿（HAE）是一种罕见的遗传性疾病，其临床特征为突发性、复发性皮肤、胃肠道和上呼吸道血管性水肿。皮肤肿胀主要发生在面部、四肢和生殖器。胃肠道发作伴有腹痛、呕吐和腹泻。由于患病率低，以及 HAE 患者常出现腹痛等症状不典型，因此最终诊断往往需要很长时间。本项德国范围内的调查旨在描述 HAE 患者从首次出现症状到最终诊断期间的自我感知健康状况、症状负担和误诊情况。
共有 81 名 HAE 患者参与了基于电话的调查。其中，大多数患者报告当前健康状况为“良好”（47.5%）或“非常好”（13.8%），与最终诊断前一年相比（“良好”（16.3%）、“非常好”（11.3%））有明显改善。四肢水肿（85.2%）和胃肠道水肿（81.5%）是目前报告最多的症状，且早于其他报告的症状（发病年龄分别为 18.1 岁和 17.8 岁）。50.6%的 HAE 患者存在误诊，其中阑尾炎和过敏最常见（误诊患者中分别为 40.0%和 30.0%）。误诊患者常接受错误治疗（80.0%），最常见的错误治疗为药物治疗和手术干预（错误治疗患者中分别为 65.6%和 56.3%）。观察到的平均诊断延迟为 18.1 年（中位数 15.0 年）。年龄较大的患者和首发患者的诊断延迟更高。
本研究表明，一旦做出最终正确诊断并提供特定治疗，患者的自我感知健康状况会好得多。未来的进一步挑战仍将是提高对 HAE 的认识，特别是在患者首次出现症状时通常就诊的场所，以确保及早转介给专科医生，从而提高早期诊断的可能性。
