背景:家族性腺瘤性息肉病(FAP)综合征患结直肠癌的终生风险接近100%。提倡早期监测和预防性手术以降低这种风险。然而,沙特阿拉伯FAP个体的监测方法未知.我们的目标是探索我们人群的监测依从性,以及疾病对他们生活质量(QoL)的影响。
方法:纳入2016年至2022年在沙特国王大学医学城接受手术切除的所有FAP患者。人口统计数据,临床特征,家族史,收集和分析监测的依从性。QoL问卷:通过电话采访进行了简短的健康调查(SF-36)和欧洲研究与治疗组织(EORTC)。
结果:共纳入14例患者,平均年龄25岁。三名患者(21.4%)是他们的家庭成员中第一个发展为FAP。9名患者(64%)由于缺乏向遗传学家转诊而未进行基因突变测试。术前结肠镜检查和上消化道内窥镜检查的符合率均为78%。然而,对初次和术后结肠镜检查观察到38%和27%的依从率,分别。甲状腺超声符合率为14%。QoL评分因患者而异,所有SF-36域的平均得分为60以上。
结论:我们的参与者总体依从性差,特别是甲状腺超声。提高健康意识和患者教育至关重要。此外,在治疗这些患者的医师中,应强调监测和遗传咨询的重要性.
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.
CONCLUSIONS: 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.