SHM Converge Scientific Abstract ePoster Gallery-Emergency Total Proctocolectomy in Uninsured Hispanic Man With Colorectal Cancer

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This case report describes a 25-year-old uninsured Hispanic man with a strong family history of Familial Adenomatous Polyposis (FAP) and colorectal cancer who presented with abdominal pain, recurrent bloody stools, severe weight loss, and anemia (Hb 7.2 g/dL). His family history was striking: his father died of colorectal cancer at 34, a half-sister had colon resection for cancer at 17, and multiple paternal relatives were affected in their teens. Despite this, none of his family members had access to genetic counseling, and his own childhood rectal bleeding had been incorrectly attributed to constipation.<br /><br />Colonoscopy showed numerous large polyps throughout the colon, extending to the dentate line. Pathology revealed tubulovillous adenoma, and surgical pathology confirmed moderately differentiated adenocarcinoma without lymphovascular or perineural invasion. Mismatch repair protein staining was intact (MLH1, PMS2, MSH2, MSH6 positive). He underwent laparoscopic-assisted total proctocolectomy with Brooke ileostomy and recovered without complications.<br /><br />The report highlights that FAP is a rare autosomal dominant disorder caused by germline APC mutations, but there is limited data on its genetic and clinical features in Hispanic populations. The authors emphasize that Hispanic communities may have underrecognized mutation patterns and face barriers such as poverty, lack of insurance, low health literacy, and limited access to genetic services. They stress the importance of early genetic counseling, timely screening, preventive surgery, and lifelong follow-up for at-risk patients. The case also underscores the need for better research, family cancer registries, and improved outreach to reduce the burden of FAP and colorectal cancer in minority populations.

Asset Subtitle

Barbara Malaga-Espinoza

Meta Tag

Author List Aramide Tijani, Barbara Malaga-Espinoza, Diana Othon-Martinez, Fatimah Bello, Vamsikalyan Borra, Yilen K. Ng-Wong

Category Clinical Vignettes

Concept Familial Adenomatous Polyposis

Concept Advanced Practice Clinician

Concept Autosomal Dominant Inheritance

Concept Colorectal Adenocarcinoma

Concept Genetic Counseling

Distinguished Non-Finalist

Presenter Organization University of Texas Rio Grande Valley

Presenting Author Barbara Malaga-Espinoza

Track Adult

Keywords

Familial Adenomatous Polyposis

FAP

colorectal cancer

APC mutation

Hispanic population

genetic counseling

colon polyps

proctocolectomy

adenocarcinoma

family history

Familial Adenomatous Polyposis

Advanced Practice Clinician

Autosomal Dominant Inheritance

Colorectal Adenocarcinoma

Genetic Counseling