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Published in: Annals of Surgical Oncology 9/2008

Open Access 01-09-2008 | Gastrointestinal Oncology

Extra-Intestinal Manifestations of Familial Adenomatous Polyposis

Authors: Emma J. Groen, Annemieke Roos, Friso L. Muntinghe, Roelien H. Enting, Jakob de Vries, Jan H. Kleibeuker, Max J. H. Witjes, Thera P. Links, André P. van Beek, MD, PhD

Published in: Annals of Surgical Oncology | Issue 9/2008

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Abstract

Familial adenomatous polyposis (FAP) is an autosomal dominantly inherited disorder, which results from a germ line mutation in the APC (adenomatous polyposis coli) gene. FAP is characterized by the formation of hundreds to thousands of colorectal adenomatous polyps. Although the development of colorectal cancer stands out as the most prevalent complication, FAP is a multisystem disorder of growth. This means, it is comparable to other diseases such as the MEN syndromes, Von Hippel-Lindau disease and neurofibromatosis. However, the incidence of many of its clinical features is much lower. Therefore, a specialized multidisciplinary approach to optimize health care—common for other disorders—is not usually taken for FAP patients. Thus, clinicians that care for and counsel members of high-risk families should have familiarity with all the extra-intestinal manifestations of this syndrome. FAP-related complications, for which medical attention is essential, are not rare and their estimated lifetime risk presumably exceeds 30%. Affected individuals can develop thyroid and pancreatic cancer, hepatoblastomas, CNS tumors (especially medulloblastomas), and various benign tumors such as adrenal adenomas, osteomas, desmoid tumors and dental abnormalities. Due to improved longevity, as a result of better prevention of colorectal cancer, the risk of these clinical problems will further increase.
We present a clinical overview of extra-intestinal manifestations, including management and treatment options for the FAP syndrome. Furthermore, we provide recommendations for surveillance of FAP complications based on available literature.
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Metadata
Title
Extra-Intestinal Manifestations of Familial Adenomatous Polyposis
Authors
Emma J. Groen
Annemieke Roos
Friso L. Muntinghe
Roelien H. Enting
Jakob de Vries
Jan H. Kleibeuker
Max J. H. Witjes
Thera P. Links
André P. van Beek, MD, PhD
Publication date
01-09-2008
Publisher
Springer-Verlag
Published in
Annals of Surgical Oncology / Issue 9/2008
Print ISSN: 1068-9265
Electronic ISSN: 1534-4681
DOI
https://doi.org/10.1245/s10434-008-9981-3

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