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

TL;DR

This review explores the mental and physical health and well-being of patients with polyposis syndromes, highlighting their unique challenges and the need for better support.

Contribution

The study provides a comprehensive synthesis of patient-reported outcomes in polyposis syndromes, emphasizing gaps in research and care.

Findings

Patients with polyposis syndromes show mental and physical health comparable to population norms but report feelings of vulnerability and anxiety.

Female patients appear more prone to mental health issues, and lifestyle changes, discrimination, and fertility concerns impact well-being.

There is a need for structured screening tools like PROM to address patient needs and for more research on rarer syndromes.

Abstract

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.

The online version contains supplementary material available at 10.1007/s10689-026-00537-4.

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