Familial Adenomatous Polyposis: A Case Report

Familial adenomatous polyposis (FAP) is an autosomal dominant disorder with high penetrance, affecting both sexes equally. Approximately 20–30% of cases may arise from de novo mutations, although the majority of affected individuals have a familial history of FAP syndrome [8]. The patient's father experienced a similar ailment; however, there have been no signs of the condition in the other siblings thus far.  CT scans and colonoscopy are essential for diagnosing and assessing rectal bleeding, particularly in young patients with high-risk factors such anemia and a substantial family history [9]. The diagnosis in our case was conducted using abdominal CT and colonoscopy to assess rectal bleeding, anemia, and a familial history of relatives with many colorectal polyps. The development of many adenomatous polyps in the colon and rectum, beginning at birth and almost usually progressing to colorectal cancer by age 40, is a characteristic hallmark of FAP [6]. The diagnosis in our case was conclusively determined after examining the resected colon, which disclosed more than 1000 polyps devoid of any malignant changes in the adenomas. The molecular characterisation of APC is crucial for confirming the diagnosis of FAP [6]. Accurate diagnosis of FAP requires comprehensive sampling of polyps for pathological analysis and germline mutation assessment, alongside detailed evaluations of clinical manifestations, endoscopic images, and genetic tests, rather than relying solely on the presence or absence of adenomatous polyps [10]. Annual screening for classic familial adenomatous polyposis (FAP) with flexible sigmoidoscopy or colonoscopy often begins at ages 10 to 12. Consequently, among individuals with familial adenomatous polyposis (FAP), screening colonoscopy coupled with prompt intervention for detected lesions has resulted in a 55% decrease in the colorectal cancer incidence, marking the initial indicator of enhanced survival rates for patients [11]. The patient's family members are uninformed of the ailment and the possible cause of the father's death.

Surgery is essential in the care after a diagnosis of FAP, with typical surgical options comprising total colectomy (accompanied by a Brooke ileostomy or ileal pouch-anal anastomosis) and subtotal colectomy with ileo-rectal anastomosis [12]. Indications for colectomy encompass symptomatic polyps, advanced adenomas including colorectal cancer, severe or progressive polyps, a polyposis load unmanageable by endoscopy, or situations where surveillance is unfeasible [13]. In young patients with a prolonged life expectancy and no advancing dysplasia or malignancy, preventative surgery involving ileorectal anastomosis (IRA) facilitates rectal preservation and should be contemplated to improve quality of life without compromising prognosis [14]. Endoscopic complete proctocolectomy with ileorectal anastomosis is a safe and practical prophylactic procedure for young patients, characterized by a low risk of complications and favorable outcomes [15]. The patient underwent total rectal resection through laparoscopy with ileal pouch-anal anastomosis due to rectal polyps, accompanied by loop ileostomy.
The risk of upper gastrointestinal cancer and desmoid tumors in patients with familial adenomatous polyposis persists post-colectomy, resulting in postoperative morbidity or diminished lifespan [16]. Regular endoscopic or colonoscopy evaluations of the anastomosis site, pouch, and residual rectum are advised post-surgery every 6 to 12 months [17]. Annual monitoring is crucial in the context of residual rectum [18]. Our patients undergo constant monitoring and supervision. Furthermore, persons with first-degree relatives diagnosed with familial adenomatous polyposis (FAP), those exhibiting over 10 to 20 intestinal polyps, and/or patients with colonic adenomas linked to extraintestinal symptoms of FAP are at elevated risk for the condition and should consider genetic testing [13]. None of the family members in our case have yet taken genetic testing and are hesitant to pursue it due to the family's financial circumstances.