Familial adenomatous polyposis: a case report

Area of Science:

• Genetics and Oncology
• Gastroenterology

Background:

• Familial adenomatous polyposis (FAP) is an inherited condition characterized by numerous colorectal adenomatous polyps, caused by mutations in the adenomatous polyposis coli (APC) gene.
• It affects approximately 1 in 10,000 to 30,000 live births and accounts for less than 1% of colorectal cancers in the USA.
• Rising colon cancer incidence in low- and middle-income countries necessitates improved diagnostic services and cost-effective treatment strategies.

Observation:

• A 22-year-old Ethiopian female presented with rectal bleeding, diagnosed with familial adenomatous polyposis and adenocarcinoma.
• Imaging revealed a rectal tumor, confirmed by colonoscopy and biopsy.
• The patient underwent total proctocolectomy and salpingo-oophorectomy, followed by chemotherapy.

Findings:

• The case highlights familial adenomatous polyposis presenting as adenocarcinoma with multiple colorectal adenomatous polyps.
• Diagnosis was based on clinical presentation, numerous polyps, and family history of colonic adenocarcinoma.
• The rarity of FAP underscores the importance of case reporting for awareness and learning.

Implications:

• Familial adenomatous polyposis should be considered in the differential diagnosis for patients with rectal bleeding and a family history of colonic adenocarcinoma.
• Early diagnostic workup, genetic counseling, and testing are essential for affected individuals and their families.
• Resource-sensitive approaches are vital for managing FAP and improving outcomes in diverse healthcare settings.