Aim

To report a case of familial adenomatous polyposis (FAP) in a 12 year-old boy in the Democratic Republic of Congo (DR Congo).



Background

FAP is an inherited disorder though to be caused by mutation of the adenomatous polyposis coli (APC) gene. Left untreated, the risk of developing colon cancer approaches 100%. There is a paucity of literature regarding FAP in Sub-Saharan Africa. This is likely due to limited access to health care, genetic testing, and endoscopic diagnostic procedures. As such it is difficult to determine the burden of disease in this region. Therefore, it is important to publish case reports, like this one, to promote further research to understand the epidemiology of FAP in this part of the world.



Subjects and methods



A 12-year-old male, resident of the town of Goma, from the Nande tribe in North Kivu, DR Congo presented with recurrent abdominal pain, diarrhea associated with blood-tinged stools and episodes of rectal bleeding with bright red blood. History, clinical exam, laboratory tests, and colonoscopy demonstrated findings consistent with FAP. A total colectomy was eventually performed followed by an ileo-rectal anastomosis.



Results

A good outcome was achieved with retained anal sensation and reasonable fecal continence. The patient did, however, experience loose stools with occasional nocturnal fecal incontinence.



Conclusion

This case report confirms the presence of FAP in Sub-Saharan Africa and in eastern DR Congo. More research is needed to better understand the incidence and prevalence of FAP and guide the development of screening and treatment programs.