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Extra-Intestinal Manifestations of Familial Adenomatous Polyposis

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 color...

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Autores principales: Groen, Emma J., Roos, Annemieke, Muntinghe, Friso L., Enting, Roelien H., de Vries, Jakob, Kleibeuker, Jan H., Witjes, Max J. H., Links, Thera P., van Beek, André P.
Formato: Texto
Lenguaje:English
Publicado: Springer-Verlag 2008
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2518080/
https://www.ncbi.nlm.nih.gov/pubmed/18612695
http://dx.doi.org/10.1245/s10434-008-9981-3
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author Groen, Emma J.
Roos, Annemieke
Muntinghe, Friso L.
Enting, Roelien H.
de Vries, Jakob
Kleibeuker, Jan H.
Witjes, Max J. H.
Links, Thera P.
van Beek, André P.
author_facet Groen, Emma J.
Roos, Annemieke
Muntinghe, Friso L.
Enting, Roelien H.
de Vries, Jakob
Kleibeuker, Jan H.
Witjes, Max J. H.
Links, Thera P.
van Beek, André P.
author_sort Groen, Emma J.
collection PubMed
description 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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spelling pubmed-25180802008-08-20 Extra-Intestinal Manifestations of Familial Adenomatous Polyposis Groen, Emma J. Roos, Annemieke Muntinghe, Friso L. Enting, Roelien H. de Vries, Jakob Kleibeuker, Jan H. Witjes, Max J. H. Links, Thera P. van Beek, André P. Ann Surg Oncol Gastrointestinal Oncology 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. Springer-Verlag 2008-07-09 2008 /pmc/articles/PMC2518080/ /pubmed/18612695 http://dx.doi.org/10.1245/s10434-008-9981-3 Text en © The Author(s) 2008 https://creativecommons.org/licenses/by-nc/4.0/ This article is distributed under the terms of the Creative Commons Attribution Noncommercial License which permits any noncommercial use, distribution, and reproduction in any medium, provided the original author(s) and source are credited.
spellingShingle Gastrointestinal Oncology
Groen, Emma J.
Roos, Annemieke
Muntinghe, Friso L.
Enting, Roelien H.
de Vries, Jakob
Kleibeuker, Jan H.
Witjes, Max J. H.
Links, Thera P.
van Beek, André P.
Extra-Intestinal Manifestations of Familial Adenomatous Polyposis
title Extra-Intestinal Manifestations of Familial Adenomatous Polyposis
title_full Extra-Intestinal Manifestations of Familial Adenomatous Polyposis
title_fullStr Extra-Intestinal Manifestations of Familial Adenomatous Polyposis
title_full_unstemmed Extra-Intestinal Manifestations of Familial Adenomatous Polyposis
title_short Extra-Intestinal Manifestations of Familial Adenomatous Polyposis
title_sort extra-intestinal manifestations of familial adenomatous polyposis
topic Gastrointestinal Oncology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2518080/
https://www.ncbi.nlm.nih.gov/pubmed/18612695
http://dx.doi.org/10.1245/s10434-008-9981-3
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