Quality of life and consequences for daily life of familial adenomatous polyposis (FAP) family members.

AIM: The study aimed to document the impact of familial adenomatous polyposis (FAP) on health-related quality of life (HRQOL) and several practical aspects of daily life, and to identify factors significantly associated with HRQOL. This study is the first to compare HRQOL between patients with FAP, at-risk individuals and noncarriers. METHOD: A total of 525 individuals (response rate 64%) from 145 families at high risk for FAP completed a battery of self-report questionnaires assessing generic- and condition-specific HRQOL and the consequences of FAP for daily life. RESULTS: HRQOL was comparable to that of the general Dutch population. Surgically treated patients with FAP had significantly lower scores on several HRQOL domains compared with at-risk individuals, noncarriers and nonsurgically treated patients with FAP. Type of surgery was not significantly associated with HRQOL. Within the surgically treated group, postsurgical complications and comorbidity significantly affected HRQOL. Forty-one percent of patients reported that FAP had affected their working life. CONCLUSION: Surgically treated patients with FAP have significantly poorer HRQOL than other groups. The type of surgery and age at time of first surgery were not associated with HRQOL but surgical complications and comorbidity were. Patients should be informed of the consequences of FAP for work and other life domains.

Long-term compliance with endoscopic surveillance for familial adenomatous polyposis.

AIM: The study assessed compliance of patients with familial adenomatous polyposis (FAP) with endoscopic surveillance. METHOD: In this nationwide, cross-sectional study, individuals from FAP families registered with the Netherlands Foundation for the Detection of Hereditary Tumours were invited to complete a questionnaire on endoscopic screening experiences. RESULTS: A total of 328 individuals were eligible for the study of whom 85 were at risk for FAP, 108 had an intact rectum after a colectomy with ileorectal anastomosis (IRA), and 135 had had a pouch following a proctocolectomy with ileoanal anastomosis (IPAA). Based on medical record data, 20% of the at-risk group and 26% of the IRA-group were found to be undercompliant with surveillance advice which was associated significantly with perceived self-efficacy, use of sedatives during surveillance, pain after surveillance and low perceived benefits of surveillance (P < 0.05). CONCLUSION: One in five individuals at risk for FAP and one in four with a retained rectum are undercompliant with screening advice. We recommend that sedatives should be patient-tailored for FAP individuals undergoing surveillance and that adequate pain medication be provided after endoscopy.

Psychosocial issues in genetic testing for familial adenomatous polyposis: a review of the literature.

OBJECTIVES: Familial adenomatous polyposis (FAP) is characterized by the development of multiple adenomas in the colon that can lead to colorectal cancer. Being a carrier for FAP is hypothesized to have a negative impact on psychosocial well-being. This paper reviews the current literature on the psychosocial aspects of FAP. METHODS: Four literature databases were used to identify all papers published between 1986 and 2007 about psychosocial and behavioral issues in FAP related to genetic testing. The following topics were reviewed: uptake and psychosocial impact of genetic testing, endoscopic screening behavior and psychosocial well-being in general. RESULTS: Seventeen papers were identified. Across studies, genetic test uptake varied between 62 and 97%. Two out of three studies showed clinical levels of anxiety and/or depression after genetic testing. A minority of individuals were not reassured by a negative test result, and intended to continue endoscopic surveillance. Well-being (e.g. quality of life, family functioning) was found to be lower in some studies, while comparable to the general population in other studies. The studies had several shortcomings, such as mixed patient population (e.g. colorectal and breast cancer) and small sample sizes, and provided no information on other potentially important issues, such as psychosexual development. CONCLUSIONS: Future studies should employ larger sample sizes and standardized measurements. Additionally, future studies should address the long-term consequences of genetic testing for FAP, psychosexual development and consequences of FAP for the family as a whole.