On October 23, Nina Fattahi will defend her thesis, "Abdominal Aortic Aneurysm - Prevalence, familial risk and patient perspectives," in which she has studied heritability among first-degree relatives of patients with AAA.
"This thesis focuses on heredity as a risk factor for abdominal aortic aneurym (AAA). Although a family history of AAA has long been recognized as one of the strongest risk factors for AAA, much of the existing knowledge is based on heterogenous studies with limited evidence. Consequently, the magnitude of the risk among family members and their awareness of this risk remain insufficiently understood", says Nina Fattahi , doctoral student at the research team Aortic Aneurysms and Dissections , Department of Molecular Medicine and Surgery , Karolinska Institutet.
"The overall aim of this thesis was to improve our understanding of family history as a risk factor for AAA. We investigated the prevalence of AAA among male and female first-degree relatives of patients with AAA and have explored their knowledge and awareness of the inherited risk. In addition, we aimed to provide a stronger evidence base for future screening strategies. Finally, we evaluated a systematic approach for identifying individuals at increased risk by a register-based screening model".
Which are the most important results?
"The most important finding of the thesis is that first-degree relatives of patients with abdominal aortic aneurysm have a threefold increased risk of developing the disease compared with individuals with no known family history of abdominal aortic aneurysm. This finding was consistent and was confirmed both in a systematic review and meta-analysis and in a large nationwide register-based study. We also found that the increased risk applies to both men and women, which is particularly important since current screening programmes are mainly aimed at men. At the same time, our studies showed that people with a family history largely lack knowledge of their increased risk. Although most are aware that the disease occurs in their family, awareness of their own risk and of the possibility of preventive examinations is limited. In one of the studies, we also found that an identification process based on national registers is feasible for individuals at increased risk of hereditary diseases such as abdominal aortic aneurysm".
How can this new knowledge contribute to the improvement of people's health?
"The results can help identify individuals at elevated risk at an earlier stage and offer them targeted screening. International guidelines already recommend screening of first-degree relatives of patients with abdominal aortic aneurysm, but our studies show that there are still challenges in reaching this risk group with information. With greater knowledge of the hereditary risk, healthcare providers can improve the information given to patients and their families and develop more effective strategies for identifying people who should be offered screening".
What are your future ambitions?
"I would like to continue combining clinical practice with research in aortic disease and vascular surgery. Working on this thesis has provided me with a foundation to build upon and has raised many new research questions. Going forward, I hope to continue research in this field with the aim of improving patient care and advancing our understanding of the genetic and hereditary aspects of aortic disease", says Nina Fattahi.
Dissertation
Friday October 23 at 09:00 , Birger & Margareta Blombäck, J3:11. The doctoral thesis has been supervised by Rebecka Hultgren .
Thesis
Fattahi, Nina (2026). Abdominal aortic aneurysm : prevalence, familial risk and patient perspectives. Karolinska Institutet. Thesis. https://doi.org/10.69622/32657868
