Familial adenomatous polyposis differential diagnosis
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Differentiating Familial adenomatous polyposis from other Diseases |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Sadaf Sharfaei M.D.[2], Mohamad Alkateb, MBBCh [3]
Overview
Familial adenomatous polyposis must be differentiated from other diseases that cause multiple polyps, such as Peutz–Jeghers syndrome, juvenile polyposis syndrome, Cowden syndrome, Carney syndrome, and hereditary non–polyposis colon cancer (Lynch syndrome).
Differentiating familial adenomatous polyposis from other Diseases
Familial adenomatous polyposis must be differentiated from other diseases that cause multiple polyps including:[1][2][3][4][5]
- Peutz–Jeghers syndrome
- Juvenile polyposis syndrome
- Cowden syndrome
- Carney syndrome
- Hereditary Non–Polyposis Colon Cancer (Lynch syndrome)
| Diseases | History and Symptoms | Physical Examination | Laboratory Findings | Other Findings | ||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Abdominal Pain | Rectal Bleeding | Fatigue | Abdominal Tenderness | Hyperpigmentation | Anemia | Gene(s) | Gastrointestinal Tumors | Cancers | ||
| Familial Adenomatous Polyposis | + | + | + | +/– | – | + |
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| Peutz–Jeghers syndrome | + | + | + | + | + | + |
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| Juvenile Polyposis Syndrome | + | + | – | – | – |
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| Cowden Syndrome | – | – | – | – | – |
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| Carney Syndrome | – | – | – | – | – | |||||
| Hereditary Non–Polyposis Colon Cancer | – | + | + | +/– | – | + | ||||
References
- ↑ Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Jasperson KW, Patel SG, Ahnen DJ. "APC-Associated Polyposis Conditions". PMID 20301519. Vancouver style error: initials (help)
- ↑ Beech D, Pontius A, Muni N, Long WP (2001). "Familial adenomatous polyposis: a case report and review of the literature". J Natl Med Assoc. 93 (6): 208–13. PMC 2594024. PMID 11446392.
- ↑ Half, Elizabeth; Bercovich, Dani; Rozen, Paul (2009). "Familial adenomatous polyposis". Orphanet Journal of Rare Diseases. 4 (1): 22. doi:10.1186/1750-1172-4-22. ISSN 1750-1172.
- ↑ Nieuwenhuis, M.H.; Vasen, H.F.A. (2007). "Correlations between mutation site in APC and phenotype of familial adenomatous polyposis (FAP): A review of the literature". Critical Reviews in Oncology/Hematology. 61 (2): 153–161. doi:10.1016/j.critrevonc.2006.07.004. ISSN 1040-8428.
- ↑ King, John E.; Dozois, Roger R.; Lindor, Noralane M.; Ahlquist, David A. (2000). "Care of Patients and Their Families With Familial Adenomatous Polyposis". Mayo Clinic Proceedings. 75 (1): 57–67. doi:10.4065/75.1.57. ISSN 0025-6196.