Transversal Allergology and Clinical immunology department, Tours University Hospital, 2 boulevard Tonnellé, Tours, 37000, France.
CREAK Competence center of Tours, Tours University Hospital, Tours, 37000, France.
Orphanet J Rare Dis. 2024 Jul 9;19(1):257. doi: 10.1186/s13023-024-03251-5.
Hereditary angioedema (HAE) is a rare and potentially life-threatening disease that manifests clinically as recurrent episodes of swelling affecting multiple anatomical locations. Long-term prophylaxis (LTP) aims to control the disease by preventing HAE attacks. Previously, treatments such as attenuated androgens have been used for LTP, but they have an unfavorable adverse effect profile. Today, these limitations may be overcome by patients transitioning to newer, targeted therapies including oral berotralstat and subcutaneous lanadelumab. This case series reports the transition process between different prophylactic therapies in a family with HAE in a real-world setting.
Four adult patient cases from the same family who underwent transitions in HAE prophylaxis are presented. Three were female and one male. Two patients who transitioned to berotralstat were initially prescribed attenuated androgens. Two patients were not taking LTP at the time of initiating targeted treatment but had previously been prescribed tranexamic acid. The length of transition varied between the patients, with the longest time taken to stabilize on new therapy being 26 months. All patients received regular follow-up in person or by telephone and all four required an adjustment from their initial treatment plan.
Transitioning between LTP in HAE may help improve control of attacks, avoid unwanted adverse effects, or better cater to individual patient preferences. Newer targeted therapies have been shown to be effective and should be discussed with patients. Shared decision-making is a tool that can aid these discussions. The transition journey between LTP therapies in HAE may not be straightforward and is specific to each patient. Physicians should consider complicating factors such as patient anxieties around changing treatment, adverse effects, preferred routes of administration, and speed of transition. Following patients closely during the transition period helps identify any issues, including difficulties with treatment adherence, and may allow the transition plan to be adapted when necessary.
遗传性血管性水肿（HAE）是一种罕见且潜在危及生命的疾病，其临床表现为反复发作的肿胀，影响多个解剖部位。长期预防（LTP）旨在通过预防 HAE 发作来控制疾病。以前，如经减弱的雄激素等治疗方法曾用于 LTP，但它们具有不良的不良反应谱。如今，患者可通过转向新型靶向治疗药物（包括口服贝曲西班和皮下拉那芦单抗）来克服这些局限性。本病例系列报告了在现实环境中同一 HAE 家族患者之间不同预防治疗方法的转换过程。
本报告介绍了来自同一家庭的 4 例接受 HAE 预防治疗转换的成年患者。其中 3 例为女性，1 例为男性。2 例转为贝曲西班的患者最初被处方了经减弱的雄激素。2 例在开始靶向治疗时并未接受 LTP，但之前曾被处方氨甲环酸。患者之间的转换时间长短不一，最长时间为 26 个月才能稳定在新的治疗方案上。所有患者均定期接受面对面或电话随访，所有 4 例患者都需要调整初始治疗方案。
HAE 中 LTP 的转换可能有助于改善对发作的控制，避免不必要的不良反应，或更好地满足个体患者的偏好。新型靶向治疗方法已被证明有效，应与患者讨论。共同决策是一种可以辅助这些讨论的工具。HAE 中 LTP 治疗之间的转换过程可能并不简单，并且因患者个体而异。医生应考虑患者对治疗改变的焦虑、不良反应、首选给药途径和转换速度等复杂因素。在转换期间密切关注患者有助于发现任何问题，包括治疗依从性困难，并在必要时调整转换计划。
