Troelnikov Alexander, Milburn Karen, Hissaria Pravin, Thao Adriana Le Thanh, Smith William
Royal Adelaide Hospital, South Australia, Australia.
SA Pathology, South Australia, Australia.
World Allergy Organ J. 2024 Jun 18;17(7):100918. doi: 10.1016/j.waojou.2024.100918. eCollection 2024 Jul.
Hereditary angioedema (HAE) due to deficiency of C1 Inhibitor (C1INH-HAE) is a rare, unpredictable and potentially fatal genetic disorder. There are relatively few systematic population prevalence studies, with reports from various countries of between 1 in 20,000 and 1 in 150,000. and no Australian data. The therapeutic landscape for HAE has changed dramatically in recent years with a focus on highly effective prophylaxis, with the aim of total suppression of angioedema and achievement of a normal life.
Epidemiological survey of HAE in South Australia, with description of patient characteristics, quality of life and treatment, with a focus on prophylaxis.
Case ascertainment was conducted over 18 months from January 2021 to July 2022, using a range of approaches with the aim of identifying all people with C1INH-HAE in South Australia. Questionnaires were administered to consenting patients utilising established HAE-specific and general survey instruments.
We identified 35 people with HAE in South Australia, yielding a population prevalence of 1 in 52,400, in line with average established international prevalence. HAE was identified in 4 patients of Indigenous Australian heritage. Seventeen of 31 adult patients completed an additional multi-questionnaire survey, revealing overall satisfactory disease control. Most common prophylactic therapies were danazol, lanadelumab, and subcutaneous C1 inhibitor. Many patients (mostly male) with milder disease had responded well to low-dose danazol with good tolerance and have continued to use it, whereas patients with higher disease burden are now using newer therapies, and overall satisfaction with current prophylaxis is high.
Prevalence of HAE in South Australia aligns with international reports. Our population survey indicates that current long-term prophylaxis therapies including danazol, lanadelumab and C1-inhibitor, applied to appropriate patients taking into account disease activity and drug risks and tolerance, are effective for HAE attack prevention and produce high levels of satisfaction.
由于C1抑制剂缺乏导致的遗传性血管性水肿（HAE，即C1INH-HAE）是一种罕见、不可预测且可能致命的遗传性疾病。系统性的人群患病率研究相对较少，各国报告的患病率在万分之二至十五万分之一之间，且尚无澳大利亚的数据。近年来，HAE的治疗格局发生了巨大变化，重点转向高效预防，目标是完全抑制血管性水肿并实现正常生活。
对南澳大利亚州的HAE进行流行病学调查，描述患者特征、生活质量和治疗情况，重点是预防。
从2021年1月至2022年7月的18个月期间进行病例确诊，采用一系列方法以识别南澳大利亚州所有患有C1INH-HAE的人。使用既定的HAE特异性和一般调查工具向同意参与的患者发放问卷。
我们在南澳大利亚州识别出35例HAE患者，人群患病率为五万二千四百分之一，与已确定的国际平均患病率一致。在4名澳大利亚原住民后裔患者中发现了HAE。31名成年患者中的17名完成了一项额外的多问卷调查，结果显示疾病总体控制情况令人满意。最常见的预防疗法是达那唑、拉那度单抗和皮下注射C1抑制剂。许多病情较轻的患者（大多数为男性）对低剂量达那唑反应良好，耐受性良好并继续使用，而病情较重的患者现在使用更新的疗法，总体上对当前预防措施的满意度较高。
南澳大利亚州的HAE患病率与国际报告一致。我们的人群调查表明，目前包括达那唑、拉那度单抗和C1抑制剂在内的长期预防疗法，在考虑疾病活动、药物风险和耐受性的情况下应用于合适的患者，对预防HAE发作有效且满意度高。
