Psychosocial experiences of individuals living with familial adenomatous polyposis more than 10 years after diagnosis

Abstract Background Familial adenomatous polyposis (FAP) is an autosomal dominant hereditary disease caused by pathogenic variants in the adenomatous polyposis coli ( APC ) gene and requires lifelong surveillance and surgical intervention such as colectomy. Studies have shown that individuals living with FAP experience a range of challenges, including altered bowel function, anxiety about developing cancer, and concerns about genetic transmission, but most have focused on short-term experiences. Consequently, this study aimed to explore the long-term psychosocial experiences of individuals living with FAP more than 10 years after diagnosis. Methods Between January 2025 and January 2026, semi-structured interviews were conducted with individuals living with FAP more than 10 years after diagnosis. An interview guide was used, and participants were primarily asked about their experiences of living with FAP after diagnosis. The interviews were audio recorded with the participants’ permission and then transcribed verbatim. A qualitative inductive approach was used for analysis. Results All 10 participants resided in Japan. The mean age was 53.7 ± 16.3 years, and the mean time since diagnosis was 25.5 ± 8.9 years. All had undergone total colectomy. Four categories of psychosocial experiences of individuals living with FAP more than 10 years after diagnosis emerged: feeling abnormal and developing a negative self-perception due to the hereditary nature of FAP, feeling socially constrained by the limitations imposed by FAP, constructing an identity as a person living with FAP while sharing experiences with peers, and finding inner growth and greater depth in life through having a hereditary disease. Conclusion The psychosocial experiences of individuals living with FAP more than 10 years after diagnosis fell into four categories. Although they felt “abnormal” and experienced inner conflict and isolation due to the limitations that FAP imposed on their lives, they also discovered an identity through sharing experiences with others living with FAP, and found meaning in life and value in their existence. Consequently, support for individuals living with FAP must extend beyond medical management to include the promotion of societal understanding and accompanying individuals through the process of deriving meaning from their experiences.