Familial Adenomatous Polyposis Coli in East Africa: A Case Report and Review of the Literature
Richard Wismayer *
Department of Surgery, Masaka Regional Referral Hospital, Masaka, Uganda. and Department of Pathology, School of Biomedical Sciences, College of Health Sciences, Makerere University, Kampala, Uganda.
*Author to whom correspondence should be addressed.
Abstract
Introduction: Familial adenomatous polyposis (FAP) is a rare diagnosis in East Africa. The author reports a case of a 21 year old gentleman presenting with occasional passage of blood stained stool, and found to have familial adenomatous polyposis coli. This is followed by a literature review on the pathogenesis, clinical features and treatment options of FAP in East Africa.
Presentation of Case: This patient presented with a strong family history of familial adenomatous polyposis, blood stained stool and a rectal mass. A total proctocolectomy and ileoanal anastomosis was carried out. The postoperative course of this patient was uneventful.
Discussion: The typical gross pathological and histological features of familial adenomatous polyposis and rectal adenocarcinoma were seen on the resected colorectal specimen. In addition this study reviews the literature regarding the clinical presentation, pathological characteristics and treatment options of familial adenomatous polyposis coli.
Conclusion: FAP should always be considered in a young patient presenting with a strong family history of CRC. Colonoscopy should be performed on these patients with early symptoms and those patients with a strong family history of FAP. In East Africa, the creation of a permanent stoma is unacceptable and therefore a proctocolectomy and Brooke ileostomy will not be a desirable option in a young patient in this part of the world.
Keywords: CRC: Colorectal carcinomaCRC: Colorectal carcinoma, FAP, Familial adenomatous polyposis, MUTYH: mut Y homolog gene, APC: adenomatous polyposis gene.