Colonic Polyps Clinical Presentation
- Author: Gregory H Enders, MD, PhD; Chief Editor: Julian Katz, MD more...
History
- History of present illness
- Most patients with colonic polyps are asymptomatic.
- In symptomatic patients, the most common presenting symptom is rectal bleeding. Other symptoms include diarrhea or constipation, often with decreased stool caliber.
- Villous adenomas of the rectum and distal colon can occasionally manifest as a syndrome of severe diarrhea with massive fluid and electrolyte loss.
- Chronic bleeding from colonic polyps may cause iron deficiency anemia.
- Family history: Although colonic polyps are a disease of older individuals, a positive family history of polyposis should prompt referral for screening in younger individuals and, in some cases, at more frequent intervals. A common practice is to begin screening in a patient 5 years earlier than the age at which colonic polyps were diagnosed in a first-degree relative.
Physical
- Distal rectal polyps can be detected by digital rectal examination. Otherwise, physical examination findings are typically normal.
- Occult blood in stools (detected by guaiac and antibody-based tests) may be found in a minority of patients with colonic polyps.
- Although nonspecific, this finding should prompt a colon evaluation in most patients.
- Such evaluations have had similar yields of clinically significant findings whether the stool sample was obtained by digital rectal examination or was retrieved from spontaneously passed stools.
Causes
- Epidemiologic studies suggest that environmental causes contribute to differences in colonic polyp incidence in geographically distinct populations, but the responsible factors have remained elusive.
- Differences in consumption of dietary fiber and antioxidants have been hypothesized to play a role in the development of colonic polyps, but these proposals have not been substantiated in recent studies. There is limited, circumstantial evidence that consumption of meat, fat, and alcohol may be risk factors. Conversely, consumption of calcium and folate may confer a modest protective effect, particularly in patients with a history of colonic polyps and low basal consumption levels.
- Genetics
- A number of polyposis syndromes have been described. These can be associated with specific extraintestinal manifestations as well as extraintestinal tumors.
- Identification and characterization of the genetic factors leading to the various syndromes is progressing. Most of the mutant genes in these syndromes have been identified.
- At the genetic level, FAP is understood best. This is an autosomal dominant disorder caused by truncating mutations in the adenomatous polyposis coli (APC) gene.
- Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant disorder caused by mutations in DNA mismatch repair proteins.
- Cowden disease is associated with mutations in the phosphatase and tensin homology on chromosome 10 (PTEN) protein phophatase.
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