Evaluating feasibility of using national registries for identification, invitation, and ultrasound examination of persons with hereditary risk for aneurysm disease—detecting abdominal aortic aneurysms in first degree relatives (adult offspring) to AAA patients (DAAAD)

BACKGROUND: Sweden and the UK invite all 65-year-old men to a population-based ultrasound-based screening program to detect abdominal aortic aneurysms (AAA). First-degree relatives of patients with AAA are reported to have an increased risk to develop AAA, both women and men, but are not invited to screening. The “Detecting AAA in First Degree Relatives to AAA patients” (DAAAD) was designed to detect the true prevalence in adult offspring to AAA patients and to evaluate if national registries could be used for identification of index persons and their adult children with a high risk for the disease. The aim of this study is to summarize the design and methodology for this registry-based study. METHODS: The study is based on a registry-based extraction and identification of a risk group in the population with a subsequent identification of their adult offspring. The targeted risk group suffers a heredity for a potentially lethal disease, AAA (n = 750) and matched control group without heredity for AAA is also identified and invited (n = 750). The participation rate in the population-based AAA screening program for men is 75% regionally. This population is younger and have a lower prevalence. A participation rate of 65% is considered clinically adequate. For the DAAAD study, a stratified analysis of the primary outcome, prevalence, will be performed for women and men separately. Two other planned projects are based on the material: firstly, evaluation of the anxiety for disease and health-related quality of life (HRQoL) and, secondly, the cost-effectiveness of the study. DISCUSSION: In conclusion, this feasibility study will be instrumental in supporting the development of a possible new model to invite persons with high risk to develop hereditary rare diseases. To our knowledge, this is a unique, safe, and most likely to be a cost-efficient model to invite targeted risk groups for selected screening. If the study design and the results are shown to be cost-effective at the detected participation rate and prevalence, it should be further evaluated and adopted to a national screening program. The model also invites both women and men, which is unique for this specific patient group, considering that all population-based screening programs only include men. TRIAL REGISTRATION: This trial is registered at the website of Clinical Trials. ClinicalTrials.gov identifier, NCT4623268 SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s40814-022-01196-9.