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Constipation Misperception: Could It Be Familial Adenomatosis Polyposis?
Priyanka Bhandari1, Amit Sapra1, Lauri Lopp1
1Family and Community Medicine, Southern Illinois University School of Medicine, Springfield, USA.
Cureus
|November 18, 2021
Summary
Familial adenomatosis polyposis (FAP) is a rare cause of colorectal cancer. A family history of colon cancer in a young patient prompted evaluation, revealing FAP.
Area of Science:
- Oncology
- Genetics
- Preventive Medicine
Background:
- Colorectal cancer (CRC) is a significant cause of cancer mortality in the US.
- Screening guidelines from the USPSTF focus on age (50-75) for average-risk individuals.
- Familial adenomatosis polyposis (FAP) is a rare, aggressive genetic condition predisposing to CRC.
Observation:
- A 21-year-old male presented with vague abdominal symptoms.
- A family history of early-onset colon cancer in a sibling was noted.
- This family history served as a critical indicator for further investigation.
Findings:
- The patient was diagnosed with Familial adenomatosis polyposis (FAP).
- FAP can lead to high morbidity and mortality if not diagnosed early.
- Vague symptoms and family history prompted the diagnosis in a young patient.
Implications:
- Primary care clinicians must consider family history, even with vague symptoms.
- Early identification of FAP through family history can prevent advanced disease.
- This case highlights the importance of thorough patient evaluation beyond standard screening criteria.
Keywords:
apc genecolon cancercolonoscopyconstipationearly-onset colorectal cancerfamilial adenomatosis polyposisfamily history of colon cancerfaphereditary cancertubular adenomaMore Related Videos
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