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Invited Critique |

Extracolonic Manifestations of Familial Adenomatous Polyposis After Proctocolectomy—Invited Critique

Thomas Attard, MD; Henry Lynch, MD
Arch Surg. 2005;140(2):164. doi:10.1001/archsurg.140.2.164.
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The genetics of FAP can be a nightmare.1

An enduring concern in the treatment of FAP is the course of the disease after colectomy; its rarity and its clinical heterogeneity limit our understanding of extracolonic neoplastic manifestations, especially if these develop at a relatively advanced age. Tulchinsky et al report their experience with several extraintestinal complications of FAP; they have also highlighted several factors that influence their choice of prophylactic surgery, including the risk of rectal tumor development and desmoid tumors. Further comment is merited about the correlation between the phenotype: the clinical behavior of FAP, and the mutation in the adematous polyposis coli (APC) gene on chromosome 5q21; such a mutation is detectable in about 80% of the patients with FAP. Although its testing is increasingly more accessible, there is a compelling need for genetic counseling.2

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