Authors
- KAHATWA SERGE KIRINGA 1
- Megan Charlotte Zalzal 2
- KAHATWA EDOURD BAHIZI 3
- MUMBERE STAN HANGI 4
- Susan Andrea Bartels 5
1 internal medicine, medicine, university of Goma, North Kivu, D R Congo
2 school of medicine, Queens University, Kingston, Canada
3 Department of Surgery, Catholic University la Sapiencia, Goma, DR Congo.
4 department of pediatrics University of Goma, HEAL Africa hospital, Goma, DR Congo.
5 Emergency Medicine, faculty of medicine, Queens University, Emergency Medicine, faculty of medicine, Queens University, Kingston, Canada
Abstract
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 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 due to limited access to health care, genetic testing, and endoscopic diagnostic procedures. It is difficult to determine the burden of disease in this region. Therefore, it is essential 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 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 ileorectal anastomosis.
Results
A good outcome was achieved with retained anal sensation and good fecal continence. However, the patient did 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. However, more research is needed to better understand the incidence and prevalence of FAP and guide the development of screening and treatment programs.
Background
FAP is an inherited disorder 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 due to limited access to health care, genetic testing, and endoscopic diagnostic procedures. It is difficult to determine the burden of disease in this region. Therefore, it is essential 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 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 ileorectal anastomosis.
Results
A good outcome was achieved with retained anal sensation and good fecal continence. However, the patient did 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. However, more research is needed to better understand the incidence and prevalence of FAP and guide the development of screening and treatment programs.
Keywords
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