遗传性血管水肿
医学
内科学
焦虑
前瞻性队列研究
萧条(经济学)
血管性水肿
儿科
精神科
免疫学
宏观经济学
经济
作者
Jane C. Y. Wong,Valerie Chiang,Ki Lam,Edmund Tung,Elaine Au,Chak Sing Lau,Philip H. Li
标识
DOI:10.1016/j.jaip.2022.07.035
摘要
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.
科研通智能强力驱动
Strongly Powered by AbleSci AI