Joshi Pradnya M, Siddiqui Mohd Saeed, Deshmukh Ajinkya, Engade Madhuri B, Haseeb Mohammad, Reddy Rishitha, Kubde Supriya
Department of Pediatrics, Mahatma Gandhi Mission (MGM) Medical College and Hospital, Aurangabad, IND.
Department of Internal Medicine, Mahatma Gandhi Mission (MGM) Medical College and Hospital, Aurangabad, IND.
Cureus. 2024 Nov 26;16(11):e74481. doi: 10.7759/cureus.74481. eCollection 2024 Nov.
Background Hereditary angioedema (HAE) is a rare disorder in India, and while prevalence data is limited, it is believed that a significant number of individuals may be affected. Due to restricted access to first-line treatments, older therapies like danazol are commonly used despite associated risks in resource-constrained settings. This study aimed to assess the efficacy of danazol as an affordable long-term prophylaxis (LTP) for HAE in a three-generation family. Methods In this retrospective study, we analyzed demographic and clinical data from 22 HAE patients within a three-generation family, assessing serum C4 and C1 esterase inhibitor levels to confirm diagnosis. Patients were treated with danazol for LTP, and the effectiveness of treatment was evaluated using the angioedema control test (AECT), alongside monitoring for adverse effects. A paired-sample t-test was used to compare AECT scores before and after treatment. Results The participants had a mean age of 33.5 years and a male predominance (63.63%). The mean age of symptom onset was 20.4 years, and six died due to laryngeal edema episodes. Nearly all patients exhibited low serum C1-INH levels, confirming the diagnosis. Among the nine patients treated with danazol for LTP, AECT scores significantly improved from a mean of 7.9 to 9.8 (p = 0.003), with 90% experiencing reduced attack frequency. Mild adverse effects, such as weight gain and menstrual irregularities, were observed in 44.4% of treated patients. Conclusions This retrospective study demonstrated that danazol reduced attack frequency and severity in HAE patients in a resource-limited setting, with mild adverse effects observed in some individuals. While these findings support danazol as a cost-effective option for managing HAE, the results should be interpreted with caution due to the study's design limitations. The AECT proves to be a useful tool for evaluating the control of angioedema attacks. Because the risk of adverse effects is high, close monitoring of patients is mandatory. However, many patients accept the adverse effects of prophylactic treatment to avoid the distressing and sometimes life-threatening attacks of this condition. Regular monitoring remains essential to mitigate adverse effects, and prospective clinical trials are necessary to further validate the efficacy and safety of danazol for LTP.
遗传性血管性水肿（HAE）在印度是一种罕见疾病，尽管患病率数据有限，但据信有相当数量的个体可能受到影响。由于一线治疗药物获取受限，在资源有限的环境中，尽管达那唑等传统疗法存在相关风险，但仍普遍使用。本研究旨在评估达那唑作为一种经济实惠的长期预防（LTP）药物对一个三代家族中HAE患者的疗效。
在这项回顾性研究中，我们分析了一个三代家族中22例HAE患者的人口统计学和临床数据，评估血清C4和C1酯酶抑制剂水平以确诊。患者接受达那唑进行LTP治疗，并使用血管性水肿控制试验（AECT）评估治疗效果，同时监测不良反应。采用配对样本t检验比较治疗前后的AECT评分。
参与者的平均年龄为33.5岁，男性占主导（63.63%）。症状发作的平均年龄为20.4岁，6例因喉头水肿发作死亡。几乎所有患者血清C1-INH水平均较低，确诊。在接受达那唑进行LTP治疗的9例患者中，AECT评分从平均7.9显著提高到9.8（p = 0.003），90%的患者发作频率降低。44.4%接受治疗的患者出现了如体重增加和月经不调等轻度不良反应。
这项回顾性研究表明，在资源有限的环境中，达那唑可降低HAE患者的发作频率和严重程度，部分个体出现轻度不良反应。虽然这些发现支持达那唑作为管理HAE的一种具有成本效益的选择，但由于研究设计的局限性，结果应谨慎解读。AECT被证明是评估血管性水肿发作控制情况的有用工具。由于不良反应风险高，对患者进行密切监测是必要的。然而，许多患者接受预防性治疗的不良反应以避免这种疾病令人痛苦且有时危及生命的发作。定期监测对于减轻不良反应仍然至关重要，前瞻性临床试验对于进一步验证达那唑用于LTP的疗效和安全性是必要的。
