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Familial Adenomatous Polyposis: An Uncommon Autosomal Genetic Condition
Correspondence Address :
Dr. Simran Khan,
Junior Resident, Department of Pathology, Jawaharlal Nehru Medical College, Sawangi (Meghe)-442004, Maharashtra, India.
E-mail: sabhatsimrankhan416@gmail.com
A 40-year-old man presented to the Department of Emergency Medicine with severe pain in abdomen which was present for the past two days. He experienced three episodes of vomiting and two episodes of diarrhoea which was greenish in colour without any blood or mucus. A mass from the anal region was also noticed while defecating which was insidious in onset and gradually progressing in size since one month. Physical examination upon deep palpation revealed generalised abdominal pain but no signs of peritoneal involvement. He claimed to have lost weight during the last four months. Notably, his family history included several relatives who had intestinal polyps and colon cancer. Laboratory findings indicated 8.5 g/dL haemoglobin levels and a mean corpuscular volume of 70 fL, along with a positive faecal occult blood test. Normal serum levels of electrolytes, creatinine, glucose, haemoglobin, and pH were observed. A differential diagnosis of haemorrhoids and rectal ulcers was made.
Anal mass, APC gene, Colon cancer, Histopathology
DOI: 10.7860/JCDR/2024/74031.20270
Date of Submission: Jul 05, 2024
Date of Peer Review: Jul 29, 2024
Date of Acceptance: Aug 10, 2024
Date of Publishing: Dec 01, 2024
AUTHOR DECLARATION:
• Financial or Other Competing Interests: None
• Was informed consent obtained from the subjects involved in the study? Yes
• For any images presented appropriate consent has been obtained from the subjects. Yes
PLAGIARISM CHECKING METHODS:
• Plagiarism X-checker: Jul 06, 2024
• Manual Googling: Aug 07, 2024
• iThenticate Software: Aug 08, 2024 (9%)
ETYMOLOGY: Author Origin
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