Division of Rheumatology and Clinical Immunology, Department of Medicine, University of Hong Kong, Hong Kong.
Division of Clinical Immunology, Department of Pathology, Queen Mary Hospital, Hong Kong.
J Allergy Clin Immunol Pract. 2022 Nov;10(11):2896-2903.e2. doi: 10.1016/j.jaip.2022.07.035. Epub 2022 Aug 12.
Recommendations regarding family screening for hereditary angioedema (HAE) remain variable and mostly based on expert opinion. Studies evaluating its implementation and efficacy are lacking.
A novel HAE screening program was established to evaluate the efficacy and impact of cascade family screening (CFS) for at-risk relatives.
Potential HAE relatives were screened through the CFS approach. Prospective data on clinical, psychological, and HAE-related outcomes were collected at baseline and 1-year follow-up. Longitudinal outcomes were analyzed and compared between index patients and those given a diagnosis through CFS.
Of 179 relatives, 53% were contactable, 67% of whom consented to screening. Twenty-nine patients (46%) were newly given the diagnosis of HAE; half were symptomatic at baseline (52%). There was a stronger trend toward higher diagnostic yield among first-degree families, although this did not meet statistical significance (57.6% vs 33.3%; P = .077). Among symptomatic patients, there was a higher proportion with complete annual HAE remission (15% vs 46%; P = .021) and a reduction in annual HAE-related hospital admissions (1 vs 0; P = .016) and length of stay (3 vs 2 days; P = .001) after 1 year. Among all patients, there were reduced Hospital Anxiety and Depression Scale-anxiety (14.35 ± 6.32 vs 6.47 ± 4.14; P = .001) and improved Angioedema Quality of Life scores (55% vs 35%; P < .001). By extrapolation, CFS led to a reduction of at least HK $1,200 (US $153) in HAE-related costs per patient per year. Screening using a greater than suggested C4 cutoff of 22.9 mg/dL yielded superior sensitivity (100%) and specificity (77%).
Cascade family screening is an effective approach to family screening in HAE, improving clinical and psychological outcomes, and reducing disease-related costs.
遗传性血管性水肿 (HAE) 的家族筛查建议仍然存在差异，并且主要基于专家意见。缺乏评估其实施和效果的研究。
建立了一种新的 HAE 筛查方案，以评估对高危亲属的级联家族筛查 (CFS) 的效果。
通过 CFS 方法对潜在的 HAE 亲属进行筛查。在基线和 1 年随访时收集临床、心理和 HAE 相关结局的前瞻性数据。对指数患者和通过 CFS 诊断的患者的纵向结局进行分析和比较。
在 179 名亲属中，有 53%可以联系，其中 67%同意筛查。29 名患者（46%）新诊断为 HAE；一半在基线时出现症状（52%）。一级亲属的诊断率较高，但未达到统计学意义（57.6%比 33.3%；P=0.077）。在有症状的患者中，完全缓解 HAE 的比例更高（15%比 46%；P=0.021），且 HAE 相关住院人数减少（1 比 0；P=0.016）和住院时间（3 比 2 天；P=0.001）。在所有患者中，医院焦虑和抑郁量表焦虑评分降低（14.35±6.32 比 6.47±4.14；P=0.001），血管性水肿生活质量评分提高（55%比 35%；P<0.001）。推断，每例患者每年因 HAE 相关费用减少至少 1200 港元（153 美元）。使用大于建议的 C4 截断值 22.9mg/dL 进行筛查可提高敏感性（100%）和特异性（77%）。
级联家族筛查是 HAE 家族筛查的有效方法，可改善临床和心理结局，并降低疾病相关成本。
