Cascade family screening improves clinical and psychological outcomes while reducing hereditary angioedema-related costs.

A prospective study aimed to assess the effectiveness and consequences of cascade family screening among at-risk relatives.

The cascade family screening method was employed to screen potential hereditary angioedema (HAE) relatives, followed by the collection of data on clinical, psychological, and HAE-related outcomes at the outset and after one year. Subsequently, longitudinal outcomes were examined and compared between index patients and individuals diagnosed via this approach.

Out of the 179 relatives identified, 53% were reachable, and among those, 67% agreed to undergo screening. Of these, 29 subjects (46%) received a new HAE diagnosis, with half of them experiencing symptoms at the outset (52%). There was a noticeable trend indicating a higher diagnostic yield in first-degree families, although it did not reach statistical significance (57.6% vs. 33.3%).

In symptomatic individuals, a greater percentage attained complete annual remission from HAE (15% vs. 46%), leading to a decrease in annual HAE-related hospital admissions (1 vs. 0) and shorter hospital stays (3 vs. 2 days) within one year. For all subjects, there was an overall enhancement in Angioedema Quality of Life scores (55% vs. 35%) and a reduction in Hospital Anxiety and Depression Scale-anxiety scores (14.35 ± 6.32 vs. 6.47 ± 4.14).

Extrapolating from the data, cascade family screening resulted in a minimum decline of HK $1,200 (US $153) in HAE-associated costs per patient per year. Screening with a C4 cutoff greater than the suggested 22.9 mg/dL demonstrated superior specificity (77%) and sensitivity (100%).

Cascade family screening proved to be a successful strategy for screening families affected by HAE, leading to enhancements in both clinical and psychological outcomes, while also resulting in reduced costs associated with the disease.