Mental- and physical health, and general well-being in patients with polyposis syndromes: a scoping review

Polyposis syndromes are associated with an increased lifelong cancer risk in several organs as well as a commitment to regular examinations and risk-reducing surgery of healthy organs, which can be compared to living with a constant health threat. More recently conducted research on the topic is scarce, and, therefore, this scoping review synthesized data of existing research on mental and physical health and general well-being from the patients’ perspectives. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses Extension for Scoping Reviews (PRISMA-ScR) was used. The search was conducted between January 2000 and October 2024, leading to the identification of 4138 studies. Of those, 39 studies met the inclusion criteria (1%), and of the 2214 included participants, 2108 had familial adenomatous polyposis. In order to analyze and synthesize relevant data, aspects of directed content analysis were applied. The findings show that patients exhibited mental and physical health in parity to population norms. However, feelings of vulnerability, anxiety, worry and fear, especially in younger participants were reported. In addition, decreased bowel and sexual function, food restrictions, body dissatisfaction, and physical attractiveness were evident. Regarding well-being, an altered lifestyle, work and social discrimination, insurance matters, concerns for family members and fertility were reported. Being female seemed to be related to mental health issues or vulnerability thereof. Appropriate screening tools, such as patient reported outcome measures (PROM), should be developed and implemented in a structured way to capture patients needs in clinical settings. Future research is needed for the rarer syndromes, represented to a limited extent in this review.