Posters
Academic Level (Author 1)
Resident
Discipline/Specialty (Author 1)
Internal Medicine
Academic Level (Author 2)
Resident
Discipline/Specialty (Author 2)
Internal Medicine
Discipline Track
Clinical Science
Abstract
Introduction: Familial Adenomatous Polyposis (FAP) is a rare genetic condition affecting the APC gene characterized by the development of hundreds to thousands of colorectal polyps increasing the risk of cancer. Diagnosis usually occurs between ages 20 and 40. We present the unfortunate case of a patient with FAP that developed colon cancer and many years of complications. Had her family history been properly obtained at a younger age with early screening and testing, outcome and prognosis could have been different.
Case Report: A 34-year-old woman diagnosed with colon cancer in 2016 had total proctocolectomy with chemoradiation. From 2018 to 2024 she had several surgeries involving benign tumors removal, bowel perforation and peritonitis. The patient is currently admitted and undergoing pain management with high doses of fentanyl and PCA pump.
She was originally diagnosed with a colonoscopy in Mexico, at that moment she looked for medical attention in the US. Upon review of medical history, the patient noted that she had three older half-brothers all of whom had colon cancer. Genetic testing and confirmation of the half-brothers’ descendants, patient´s descendants and her two sisters confirmed genetic status of several family members.
The oldest half-brother had two healthy descendants, the second half-brother had two descendants that had prophylactic colectomy at ages 21 and 23, the third half-brother had two descendants that had prophylactic colectomy at age 17.
The patient has two daughters that underwent prophylactic colectomy at ages 18 and 19 plus two other healthy sons. The older sister died of colon cancer and had two healthy descendants, the youngest sister has colon cancer, all her three descendants are under the age of 10 and are about to undergo screening.
Discussion: Familial adenomatous polyposis is an autosomal dominant syndrome with hundreds of adenomatous polyps in the colon and occasional extracolonic gastrointestinal locations. Effective management depends on early detection, intervention and preventive strategies which include prophylactic colectomy to reduce the risk of cancer. Early screening defines the course and prognosis of patients.
The key genetic testing is suggested for all primary relatives of the patient if a deleterious mutation is confirmed. APC mutation screening is recommended in children between the ages of 10 and 12 years old. Management of carriers with confirmed disease is with annual colonoscopies until the recommended prophylactic colectomy.
Strategies aimed at preventing the appearance of high-risk features, such as advanced adenomas or severe GI bleeding are critical. In typical FAP, where there are less than 10 small adenomas, illness free surgery can be postponed until late adolescence or early adult life.
Our patient’s case highlights the critical importance of prevention with a multidisciplinary team including colorectal surgery, hospitalist, genetics, gastroenterology, oncology, nutrition and pain management. Early diagnosis in her half-brothers could have prevented our patient of severe complications, recurrent prolonged hospital stays, infections, and difficult to control chronic pain.
Presentation Type
Poster
Recommended Citation
Aboytes, Jorge A. and Calderon, Aura, "Polyp puzzle, get to know your family. An unfortunate late diagnosis of Familial Adenomatous Polyposis: A Case Report." (2024). Research Colloquium. 16.
https://scholarworks.utrgv.edu/colloquium/2024/posters/16
Included in
Polyp puzzle, get to know your family. An unfortunate late diagnosis of Familial Adenomatous Polyposis: A Case Report.
Introduction: Familial Adenomatous Polyposis (FAP) is a rare genetic condition affecting the APC gene characterized by the development of hundreds to thousands of colorectal polyps increasing the risk of cancer. Diagnosis usually occurs between ages 20 and 40. We present the unfortunate case of a patient with FAP that developed colon cancer and many years of complications. Had her family history been properly obtained at a younger age with early screening and testing, outcome and prognosis could have been different.
Case Report: A 34-year-old woman diagnosed with colon cancer in 2016 had total proctocolectomy with chemoradiation. From 2018 to 2024 she had several surgeries involving benign tumors removal, bowel perforation and peritonitis. The patient is currently admitted and undergoing pain management with high doses of fentanyl and PCA pump.
She was originally diagnosed with a colonoscopy in Mexico, at that moment she looked for medical attention in the US. Upon review of medical history, the patient noted that she had three older half-brothers all of whom had colon cancer. Genetic testing and confirmation of the half-brothers’ descendants, patient´s descendants and her two sisters confirmed genetic status of several family members.
The oldest half-brother had two healthy descendants, the second half-brother had two descendants that had prophylactic colectomy at ages 21 and 23, the third half-brother had two descendants that had prophylactic colectomy at age 17.
The patient has two daughters that underwent prophylactic colectomy at ages 18 and 19 plus two other healthy sons. The older sister died of colon cancer and had two healthy descendants, the youngest sister has colon cancer, all her three descendants are under the age of 10 and are about to undergo screening.
Discussion: Familial adenomatous polyposis is an autosomal dominant syndrome with hundreds of adenomatous polyps in the colon and occasional extracolonic gastrointestinal locations. Effective management depends on early detection, intervention and preventive strategies which include prophylactic colectomy to reduce the risk of cancer. Early screening defines the course and prognosis of patients.
The key genetic testing is suggested for all primary relatives of the patient if a deleterious mutation is confirmed. APC mutation screening is recommended in children between the ages of 10 and 12 years old. Management of carriers with confirmed disease is with annual colonoscopies until the recommended prophylactic colectomy.
Strategies aimed at preventing the appearance of high-risk features, such as advanced adenomas or severe GI bleeding are critical. In typical FAP, where there are less than 10 small adenomas, illness free surgery can be postponed until late adolescence or early adult life.
Our patient’s case highlights the critical importance of prevention with a multidisciplinary team including colorectal surgery, hospitalist, genetics, gastroenterology, oncology, nutrition and pain management. Early diagnosis in her half-brothers could have prevented our patient of severe complications, recurrent prolonged hospital stays, infections, and difficult to control chronic pain.