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Familial polyposis coli is characterized by the presence of 100 to more than
1000 tubular adenomas which carpet the colon. Less frequently, lesions occur in
the stomach and the small bowel, particularly the duodenum.
has a prevalence of 1 in 7000 to 1 in 24000, and is most commonly inherited in
an autosomal dominant fashion, although one-third of cases are sporadic. The adenomatous
polyposis gene (APC gene) is located on the long arm of chromosome 5
with a family history (several close relatives affected) of early-onset colon
cancer with multiple polyps may have familial polyposis coli (familial adenomatous
polyposis) and can be offered testing for the APC gene (this can be identified
in the majority of cases of classical familial polyposis coli) (1)
involves endoscopic surveillance of at-risk individuals from their early teens
- colectomy once polyposis has been established (1)
The polyps usually
appear in the second and third decade and have 100% malignant potential. Bleeding
usually heralds malignant change and a poor prognosis.
lesions may occur in variants.
- Pulse (2005); 65(14):55-60.
J (1995). Colon-cancer genes and brain tumours. NEJM; 332: 884-5.
SV. et al. (1994). Genetic heterogeneity of congenital hypertrophy of the retinal
pigment epithelium (CHRPE) in families with familial adenomatous polyposis. J.
Med. Genet.;31(1): 55-8.
Last edited 08/2019