Surveillance Compliance and Quality of Life Assessment Among Surgical Patients with Familial Adenomatous Polyposis Syndrome.

BACKGROUND: Familial adenomatous polyposis (FAP) syndrome has a near-100% lifetime risk of colorectal cancer. Early surveillance and prophylactic surgery have been advocated to reduce this risk. However, the surveillance practices among FAP individuals in Saudi Arabia are unknown. We aimed to explore surveillance compliance in our population, as well as the disease impact on their quality of life (QoL). METHODS: All patients with FAP who underwent surgical resection at King Saud University Medical City between 2016 and 2022 were included. Demographic data, clinical features, family history, and compliance with surveillance were collected and analyzed. QoL questionnaires: Short-form health survey (SF-36) and European Organization for Research and Treatment (EORTC) were conducted by phone interview. RESULTS: A total of 14 patients were included with an average age of 25 years. Three patients (21.4%) were the first of their family members to develop FAP. Nine patients (64%) were untested for genetic mutation due to lack of referral to geneticists. The compliance rate toward both pre-operative colonoscopy and upper endoscopy were 78%. However, 38% and 27% compliance rates were observed toward initial and post-operative colonoscopy, respectively. The compliance rate was 14% toward thyroid ultrasound. QoL scores varied among patients, with a mean score above 60 across all SF-36 domains. CONCLUSION: An overall poor compliance was observed among our participants, particularly toward thyroid ultrasound. Increased health awareness and patient education are essential. In addition, the importance of surveillance and genetic counseling should be emphasized among physicians treating these patients.

Mapping psychosocial interventions in familial colorectal cancer: a rapid systematic review.

BACKGROUND: Approximately 5% of colorectal cancer (CRC) cases are part of a well-defined inherited genetic syndrome and up to approximately 30% of these cases have a clinically defined familial basis. Psychosocial interventions in familial colorectal cancer address aspects mainly focused on affective, cognitive and behavioural outcomes. The present review aims to systematically map out the available psychosocial interventions for individuals with a family history of CRC and describe the current state of the research. METHODS: An extensive electronic search was conducted to investigate the literature published until June 2020. Inclusion criteria consisted of quantitative studies published in English that explored the impact of psychosocial interventions for familial CRC, clearly defined the psychosocial intervention offered and included participants with a family history of CRC. RESULTS: The analysis included 52 articles. Genetic counselling, educational interventions, psychological interventions and multimodal interventions were identified across the studies. In terms of diagnoses, Lynch Syndrome, Familial Adenomatous Polyposis, Familial Colorectal Cancer were the main conditions included in the studies. Affective, cognitive, behavioural aspects and quality of life emerged as the most frequently explored outcomes. The studies included individuals with both personal and familial history of CRC or family history alone. CONCLUSIONS: Our rapid review provides an overview of the literature exploring the impact of psychosocial interventions for familial CRC. The psychosocial interventions identified had an overwhelmingly positive impact across all types of outcomes measured. Genetic counselling appeared to be most beneficial, and this is expected as it is purposively designed to address genetic conditions. Further quantitative analysis of primary empirical research is needed to determine the efficacy and effectiveness of psychosocial interventions as well as the mechanisms through which they exert their effect.

Mental Health Symptoms in Patients With Familial Adenomatous Polyposis: An Observational Study.

BACKGROUND: Almost all patients with familial adenomatous polyposis undergo abdominal surgery with a risk of disease and surgery-related complications. This, the familial nature of the syndrome, and its wide-ranging manifestations make patients prone to mental health symptoms. If this is true, patients need appropriate evaluation and treatment. OBJECTIVE: The purpose of this study was to record the experience of mental health symptoms in a group of unselected patients with FAP. DESIGN: We conducted an observational study using an anonymized mental health symptom survey for patients affected with familial adenomatous polyposis. SETTINGS: The study was conducted using the Hereditary Colorectal Cancer Registry in a tertiary referral center. PATIENTS: Patients affected with familial adenomatous polyposis were included. MAIN OUTCOME MEASURES: Results of the mental health survey were measured. RESULTS: Seventy nine of 100 patients completed the survey; 57 endorsed ≥1 psychosocial symptom (72.2%). with a mean of 4 per patient. Nine patients (11.4%) met all 4 of the American Psychiatric Association diagnostic criteria for posttraumatic stress disorder, and 8 (10.1%) endorsed partial posttraumatic stress disorder criteria (3/4 symptoms). Patients who met all of the criteria for posttraumatic stress disorder had an average of 9.3 psychosocial symptoms each compared with 8.3 for those who met 3 of 4 and 2.2 for those who met <3. Six patients endorsed suicidal thoughts, all of whom met 3 or 4 of the criteria for posttraumatic stress disorder. LIMITATIONS: The study was limited by its referral bias toward severe cases and relatively small number of patients. Because of the limitations of an anonymous self-administered screening, no mental health diagnoses have been given. CONCLUSIONS: Patients with familial adenomatous polyposis are at risk for mental health symptoms, which can be multiple and severe. Some patients need professional counseling. A correlation between familial adenomatous polyposis patients with posttraumatic stress disorder and suicidal ideation is important. See Video Abstract at http://links.lww.com/DCR/A995. SÍNTOMAS PSICOPATOLÓGICOS EN PACIENTES CON PÓLIPOSIS ADENOMATOSO FAMILIAR: UN ESTUDIO OBSERVACIONAL: Un mayoría de pacientes con póliposis adenomatoso familiar (PAF) se someten a cirugía abdominal con los riesgos de enfermedad propria y complicaciones relacionadas a cirugía. Estos factores, la relación familiar del síndrome y sus manifestaciones altamente variables hacen que los pacientes sean propensos a psicopatologías. Si estas consideraciones son validas, los pacientes requieren evaluación y tratamiento adecuado. OBJETIVO: Documentar la experiencia de los síntomas psicopatológicos en un grupo de pacientes no seleccionados con PAF. DISEÑO:: Estudio observacional utilizando una encuesta anónima de síntomas psicopatológicos en pacientes afectados con póliposis adenomatoso familiar. AMBIENTE CLINICO: Registro de cáncer colorrectal hereditario en un centro de referencia de tercer nivel. PACIENTES: Individuos afectados con póliposis adenomatoso familiar. OBJETIVOS PRINCIPALES A VALORACIÓN:: Resultados de la encuesta de salud mental. RESULTADOS: Setenta y nueve de 100 pacientes completaron la encuesta; 57 afirmaron uno o más síntomas psicosociales (72,2%) con un promedio de 4 por paciente. 9 (11,4%) pacientes cumplieron con los 4 criterios de diagnóstico de la Asociación Estadounidense de Psiquiatría para el trastorno por estrés postraumático, y 8 (10,1%) llenaron los criterios del trastorno de estrés postraumático parcial (3/4 síntomas). Los pacientes que cumplieron con todos los criterios para el trastorno por estrés postraumático tuvieron un promedio de 9.3 síntomas psicosociales cada uno, en comparación con 8.3 para los que cumplieron con 3/4 y 2.2 para los que cumplieron con <3. 6 pacientes afirmaron pensamientos de suicidio, todos los cuales cumplieron con 3 o 4 de los criterios para el trastorno por estrés postraumático. LIMITACIONES: Sesgo de referencia hacia casos graves, y un número relativamente pequeño de pacientes. Debido a las limitaciones de un examen anónimo auto administrado, no se confirmaron diagnósticos de psicopatología. CONCLUSIONES: Los pacientes con póliposis adenomatoso familiar tienen riesgo de síntomas de salud mental alterada que pueden ser múltiples y graves. Algunos pacientes necesitan asesoramiento profesional. La correlación entre los pacientes con póliposis adenomatoso familiar con trastorno por estrés postraumático y ideación suicida es importante. Vea el Resumen del Video en http://links.lww.com/DCR/A995.

Barriers to thyroid cancer screening with ultrasound in patients with familial adenomatous polyposis.

OBJECTIVES/HYPOTHESIS: To identify barriers to care in patients with familial adenomatous polyposis (FAP) that have not undergone ultrasound for thyroid cancer (TC) screening. STUDY DESIGN: Case series and survey. METHODS: A study was conducted examining referral patterns for thyroid ultrasound (TUS) in FAP patients for TC screening. Patients with FAP seen at our institution were identified using International Classification of Diseases, Ninth Revision and Tenth Revision codes. Chart review was performed for TUS and the results were recorded. Patients and healthcare providers were surveyed to determine barriers to TUS and opportunities for improvement. RESULTS: Thirteen out of 35 patients surveyed (37%) were told by a healthcare provider that TUS was recommended for TC screening. The incidence for TC in FAP patients ranges from 15 to 12%, whereas the general population risk is 0.02% to 1%. In our series, one patient of 12 (8%) had TC. Barriers to care included poor patient education about the risk of TC in FAP and miscommunication among specialties for referral for TUS. Also, patients enrolled in a FAP registry have improved care, as they are more likely to undergo TUS than those not enrolled. CONCLUSIONS: FAP patients are at a higher risk of developing TC. Therefore, it is important for these patients to be informed and follow the recommended guideline to get a baseline TUS for screening as well as receive better patient education about the risk of TC and improved communication among specialties. Additionally, patients enrolled in a FAP registry are more likely to undergo ultrasound for TC screening, so there needs to be more centralized coordination for the multidisciplinary care of this disease. LEVEL OF EVIDENCE: NA Laryngoscope, 129:2436-2441, 2019.

Life After Surgery: Surgeon Assessments of Quality of Life Among Patients With Familial Adenomatous Polyposis.

BACKGROUND: Without prophylactic surgery, patients with familial adenomatous polyposis are at high risk for colorectal cancer development. Various surgical options for prophylaxis are available. Patient decision-making for preventative treatments is often influenced by the preferences of healthcare providers. OBJECTIVE: We determined surgeon preferences for the surgical options available to patients with familial adenomatous polyposis. DESIGN: We obtained preference estimates for postoperative health states from colorectal surgeons who had treated ≥10 patients with familial adenomatous polyposis. SETTINGS: Assessments were made at an annual meeting of the American Society of Colon and Rectal Surgeons. MAIN OUTCOME MEASURES: Utilities were measured through the time trade-off method. We determined utilities for 3 procedures used for prophylaxis, including total proctocolectomy with permanent ileostomy, colectomy with ileorectal anastomosis, and total proctocolectomy with IPAA. We also assessed utilities for 2 short-term health states: 90 days with a temporary ileostomy and 2 years with a poorly functioning ileoanal pouch. RESULTS: Twenty-seven surgeons who had cared for >1700 patients with familial adenomatous polyposis participated in this study. The highest utility scores were provided for colectomy with ileorectal anastomosis (0.98). Lower utility scores were provided for total proctocolectomy with permanent ileostomy (0.87) and IPAA (0.89). The number of patients with familial adenomatous polyposis who were treated by participating surgeons did not influence these estimates; however, more-experienced surgeons gave lower utility scores for a poorly functioning ileoanal pouch than less-experienced surgeons (0.15, 0.50, and 0.25 for high-, medium-, and low-volume surgeons; p = 0.02). LIMITATIONS: This study was limited by the sample size. CONCLUSIONS: For patients with familial adenomatous polyposis and relative rectal sparing, surgeon preferences are greatest for colectomy with ileorectal anastomosis. Utility estimates provided by this study are important for understanding surgical decision-making and suggest a role for ileorectal anastomosis in appropriately selected patients. See Video Abstract at http://links.lww.com/DCR/A656.

The role of illness perceptions in adherence to surveillance in patients with familial adenomatous polyposis (FAP).

OBJECTIVE: The aim of the study was to examine patients' beliefs about having familial adenomatous polyposis (FAP), a hereditary colorectal cancer syndrome, and how these beliefs are associated with adherence to endoscopic surveillance. METHODS: Adult patients diagnosed with FAP on the national Swedish polyposis register who had undergone prophylactic colorectal surgery (n 209, response rate 76%) completed the Illness Perception Questionnaire (IPQ). Logistic regression analysis was used to investigate the relationships between illness perceptions and adherence, when controlling for demographic and clinical factors. RESULTS: FAP was less distressing in men and those with fewer symptoms, reporting less serious consequences and more coherent understanding of FAP. Non-adherence (14%) to surveillance was associated with being older, having undergone surgery less recently and no history of malignancy. Patients' beliefs about their FAP were able to explain unique variance in non-adherence, in particular those who believed FAP was less distressing. CONCLUSIONS: Patients who were non-adherent to endoscopic surveillance had more positive perceptions about their FAP and, in particular, were less emotionally affected compared to those who adhered. As non-adherence implies a greater risk of future malignancies, special efforts are required to effectively prevent cancer in all patients with FAP. Those who have lived with the condition for a long time, and are not troubled by gastrointestinal symptoms or worried about their FAP, may be in need of specific information and support. Further prospective research is required to examine emotional predictors and consequences of non-adherence. Copyright © 2015 John Wiley & Sons, Ltd.

Quality of life, social impact and functional outcome following ileal pouch-anal anastomosis for ulcerative colitis and familial adenomatous polyposis.

This study aims to assess quality of life (QoL), functional outcome, and social impact following ileal pouch anal anastomosis (IPAA) for ulcerative colitis (UC) and familial adenomatous polyposis (FAP) since Indian data is limited. Data was collected prospectively from patients who underwent IPAA for UC or FAP from 2004 to 2013. QoL and functional outcome at 1, 3, and 5 years after surgery, return to work, and change of job (social impact) were documented. QoL was assessed using the validated Cleveland Global Quality of Life (CGQL) score, the normal score being 1.0. Twenty-five patients were analyzed. Mean CGQL scores before surgery and at 1, 3, and 5 years were 0.5, 0.63, 0.73, and 0.8, respectively. FAP patients had better scores at 3 and 5 years. Only 40 % returned to same job. Sixty-four percent returned to work within a year. The median number of bowel movements per 24 h was less for FAP patients at 3 and 5 years. UC patients on long-term steroids had poorer function at 3 years. Long-term QoL and functional outcomes following IPAA are acceptable. Initial deterioration in QoL, mainly in FAP and long-term adverse social impact in both groups should not be underestimated. UC patients on long-term steroids showed delayed improvement in pouch function.

Comparison of attitudes regarding preimplantation genetic diagnosis among patients with hereditary cancer syndromes.

Preimplantation genetic diagnosis (PGD) allows couples to avoid having a child with an inherited condition, potentially reducing cancer burden in families with a hereditary cancer predisposition. This study investigated and compared awareness and acceptance of PGD among patients with different hereditary cancer syndromes. Questionnaires were mailed to 984 adults with hereditary breast and ovarian cancer, Lynch syndrome, familial adenomatous polyposis, or multiple endocrine neoplasia type 1 or 2. Associations between clinical, demographic, and psychosocial factors and awareness and acceptance of PGD were examined. Of 370 respondents (38 % return rate), 28 % felt their syndrome impacted family planning, 24 % were aware of PGD, 72 % felt that PGD should be offered, 43 % would consider using PGD, and 29 % were uncertain. Family experience and syndrome-specific characteristics, such as disease severity, quality of life and availability of medical interventions as well as gender, family planning stage, and religiosity impact perceptions of the acceptability of PGD, though a high level of uncertainty exists. Hereditary cancer patients lack awareness of PGD despite feeling that PGD should be offered, highlighting the need for education on this topic. While we found attitudes about the acceptability of PGD to be generally similar to those reported in the literature and of genetics and ethics experts, we observed similarities and differences between syndromes that provide insight into why some hereditary cancer patients may find PGD more acceptable than others.

Psychological implications of living with familial adenomatous polyposis.

BACKGROUND AND STUDY AIMS: Psychosocial implications of living with FAP remain largely unexplored. This article reviews available literature on three topics: 1) Implications of living with FAP 2) genetic testing and reproductive decision-making and 3) family communication. PATIENTS AND METHODS: Papers published until 2009 about psychosocial and behavioral issues in FAP were identified. RESULTS: Psychometric data indicate that FAP patients and at-risk relatives as a group do not exhibit clinical symptoms of mental health problems after clinical or genetic diagnosis. However, some subgroups revealed to be more vulnerable to distress. Also, concerns related to the disease and its consequences were reported. While interest in prenatal diagnosis or preimplantation genetic diagnosis seems to be high it is important to study actual uptake because this may reveal to be much lower. Family members are an important source of information and the few available data suggest that family communication is problematic. The findings described have several shortcomings. They were obtained from only a few studies often conducted using specific or mixed study groups, originating from the 90ties and mostly cross-sectional in nature. CONCLUSIONS: For clinical practice, it is important to have more research data on how FAP patients at different ages cope with the disease, on the impact of genetic testing on reproductive decision-making and on family communication. Results reported here need to be confirmed by additional research and new themes need to be explored.

Quality of life after restorative proctocolectomy and ileal pouch-anal anastomosis in patients with familial adenomatous polyposis: a matter of adjustment.

AIM: Favourable outcomes for health-related quality of life (HRQL) have been reported in patients with familial adenomatous polyposis (FAP) after restorative proctocolectomy and ileal pouch-anal anastomosis (RPC). However, less is known about patients' subjective experience and adjustment to postoperative impairment. Using a multidimensional psychometric assessment, we investigated patient-reported HRQL to determine the impact of the patient's subjective experience together with medical, functional and psychosocial factors on HRQL. METHOD: In this cross-sectional study, 116 FAP patients who had undergone RPC on average 8 years earlier completed standardized and study-specific questionnaires and participated in a personal interview. The impact of medical, functional and psychosocial factors on patients' HRQL was determined by regression analyses. RESULTS: When using a generic psychometric measure, FAP patients' overall HRQL was comparable with that of the general population. Impaired HRQL, however, was found in patients reporting poor pouch function in contrast to those reporting good or moderate functional outcome. Findings from a personalized interview also suggested that a good functional result does not necessarily translate into good HRQL. Personal resources predicted patients' physical and psychological well-being, whereas little variance of HRQL was explained by medical factors and function. CONCLUSION: Patients' HRQL is, to a substantial degree, the result of adjustment to the adverse impact of RPC. By using personal resources the majority of patients may achieve satisfactory HRQL levels even when bowel function is impaired. A multidimensional assessment that comprises medical, functional and psychosocial aspects is required to ascertain an adequate evaluation of FAP patients after RPC.

Familial adenomatous polyposis: mental health, psychosocial functioning and reactions to genetic risk in adolescents.

Familial adenomatous polyposis (FAP) in a parent requires diagnostic follow-up and treatment from adolescence in possible gene carriers in order to prevent cancer development. A nationwide sample (n = 22) of adolescent FAP offspring including 85% of eligible individuals aged 11-20 years and their parents were interviewed with regard to adolescent mental health, psychosocial functioning, knowledge about FAP and genetic risk, and experiences with testing and surgery. Thirty-six percent of the FAP offspring fulfilled criteria for a psychiatric diagnosis. For adolescents older than 15 years, this was increased relative to a comparison group with Hirschprung's disease and a general population sample. Neither genetic testing nor FAP diagnosis in adolescent FAP-offspring differentiated significantly between those who fulfilled the criteria and those who did not for psychiatric diagnosis, while a global score of chronic family difficulties did. This may imply that experiencing parental illness more than inheriting FAP is a perceived stressor for adolescent FAP offspring.

Long-term functional outcome and quality of life after restorative proctocolectomy with ileo-anal anastomosis for colitis.

AIM: The study aimed to evaluate long-term health-related quality of life (HRQOL) and functional outcome in patients who had undergone restorative proctocolectomy with ileo-anal anastomosis (IPAA) for ulcerative colitis and familial adenomatous polyposis. METHOD: A total of 156 patients who underwent IPAA during the period 1984-2003 and who still had an intact pouch were included. The HRQOL score was compared with 4152 individuals from the general Norwegian population using the SF-36 questionnaire, and function was evaluated using the Wexner Continence Grading Scale. RESULTS: One hundred and ten (71%) patients answered the questionnaires, 60 (55%) of whom were men. All except five patients had ulcerative colitis. Median (range) age at interview was 47 (19-66) years, and time after surgery was 12 (2-22) years. The IPAA patients scored slightly, but significantly, lower in four of six SF-36 health domains than the control subjects, adjusted for age and gender. Multiple regression analysis showed frequency of nocturnal defaecation, faecal incontinence and urgency to be independent negative prognostic factors of quality of life. Frequency of defaecation was a median of 7 (3-12) bowel movements during the day and 2 (0-6) at night. The majority had some degree of faecal incontinence, median (range) Wexner score of 8 (0-17), and 40% reported urgency of defaecation necessitating alterations in lifestyle. CONCLUSION: Patients with IPAA reported slightly lower HRQOL rates than the general population and had an inferior functional outcome.

Psychological distress and quality of life of partners of individuals with familial adenomatous polyposis.

OBJECTIVE: Familial adenomatous polyposis (FAP) is a genetic condition characterized by the development of multiple adenomas in the colorectum that could lead to colorectal cancer. Our aim was to assess levels and predictors of psychological distress and quality of life (QOL) among partners of FAP-patients. METHODS: A nationwide, cross-sectional survey using validated self-report questionnaires assessing psychological distress and QOL. RESULTS: One hundred and twenty-nine partners completed the questionnaire (84% response rate), 30% of whom reported moderate-to-severe levels of distress. The partners' distress was associated significantly with the patients' distress, having children, and feelings of guilt. Fifty-seven percent of the partners with moderate-to-severe distress levels had received professional psychosocial support. Partners did not differ significantly from the general population in QOL. However, 9-21% reported that FAP had affected their work, leisure time activities, and relationships. CONCLUSIONS: Clinicians should be particularly alert for heightened distress levels in partners of patients who are themselves distressed, and among those with children.

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.

Prospective study of health-related quality of life and restorative proctocolectomy in children.

PURPOSE: Although restorative proctocolectomy has become the standard surgical treatment for ulcerative colitis and familial adenomatous polyposis, there are no prospective studies in children of the impact of this intervention on health-related quality of life. METHODS: A prospective study of health-related quality of life in children with ulcerative colitis or familial adenomatous polyposis undergoing restorative proctocolectomy was performed. Patients and their parents who agreed to participate completed standardized health-related quality-of-life surveys (Medical Outcomes Study Short Form-36 and Child Health Questionnaire Parent Form) within one month before colectomy and approximately one year after completion of their surgery. RESULTS: Of the 60 patients who agreed to participate, 44 completed surveys at the appropriate time periods allowing comparison. The parents of 28 of these subjects also completed paired surveys. Before colectomy, patients with ulcerative colitis had substantially lower health-related quality-of-life scores, which were also mirrored in parental surveys. Following surgery patients with ulcerative colitis had significant improvement in 7 of 8 Medical Outcomes Study Short Form-36 patient subscales and all 6 corresponding Child Health Questionnaire Parent Form parental subscales of health-related quality of life. Patients with familial adenomatous polyposis showed improvement in the bodily pain subscale alone, whereas their corresponding parental surveys only showed improvement in the mental health subscale. CONCLUSION: There are clearly significant adverse affects on health-related quality of life in children with ulcerative colitis that dramatically improved following restorative proctocolectomy.

Psychological distress and use of psychosocial support in familial adenomatous polyposis.

OBJECTIVE: Familial adenomatous polyposis (FAP) is characterized by multiple adenomas in the colorectum with a high risk to develop colorectal cancer. It is unclear whether individuals at risk of FAP experience distress due to this potentially life-threatening disease. This nationwide study assessed: (1) the prevalence of psychological distress; and (2) the need for and use of specialized professional psychosocial support. METHODS: In this cross-sectional study, all individuals from families at high risk for FAP registered at the Netherlands Foundation for the Detection of Hereditary Tumours were invited to complete a questionnaire assessing, among other issues, generalized, cancer-specific and FAP-specific distress. RESULTS: In total, 525 individuals completed the questionnaire. Approximately 20% of the respondents had moderate to severe levels of FAP-specific distress. Levels of generalized distress were comparable to the general Dutch population. Significantly more individuals with a FAP diagnosis had frequent cancer worries than those at risk of FAP or non-carriers (p=0.02). Distress levels were more strongly associated with psychosocial variables (e.g. perceived cancer risk), than with sociodemographic or clinical variables. Up to 43% of the variance in distress could be explained by all variables combined. Of those moderately to severely distressed, 26% had received specialized professional psychosocial support, while 30% of those did not receive the support they wanted. CONCLUSIONS: A substantial minority of individuals reported moderate to severe distress levels associated with FAP. However, only one-third of those received specialized professional psychosocial support. We recommend the use of a screening questionnaire to identify individuals in need of such support.

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 impact of familial adenomatous polyposis on young adults: a qualitative study.

The aim of this study was to explore in detail the psychosocial impact of either having familial adenomatous polyposis (FAP) or being at risk for FAP amongst young adults. In-depth interviews were conducted with eleven individuals aged 18-35 with a clinical or genetic diagnosis of, or at risk of developing FAP. While being at risk did not seem to have a major psychosocial impact upon clinically unaffected participants, clinically affected individuals discussed a number of major stressors including issues in relation to changes in body image and physical functioning as a result of surgery, concerns about discussing FAP with new partners, difficulties in relation to childbearing decision-making, and impact on employment. Genetic counseling was described as being highly effective in providing support, but most participants were not aware of any other support services. Providing longer-term support through ongoing genetic counseling appears necessary to adequately address the ongoing challenges faced by young adults who are dealing with FAP.

Revolutionary advances in the diagnosis and treatment of Familial Adenomatous Polyposis.

During the last 25 years, there have been revolutionary advances in the treatment of Familial Adenomatous Polyposis (FAP). The purpose of this article is to describe the pathophysiology, genetic testing, surveillance, surgical interventions, and psychosocial issues. The genetic defect in FAP is germline mutation in the adenomatous polyposis coli (APC) gene. Syndromes once thought to be distinct from FAP are now recognized to be part of the phenotypic spectrum of FAP. Syndromes with a germline mutation in the APC gene include FAP, Gardner syndrome, Turcot syndrome, and Attenuated Adenomatous Polyposis Coli (AAPC). FAP is a germline mutation in the APC gene with onset of florid polyposis in childhood and development of colorectal cancer by age 30. Colectomy is advised because of the high risk of developing colorectal cancer. AAPC is a variant of this condition with later age of onset and milder clinical phenotype. However, colectomy is advised once polyposis develops and polyps cannot be managed endoscopically. Despite the unique advances in genetic testing, psychosocial management of these syndromes remains to be a challenging problem.