Polyposis syndromes, hereditary

Authors: Prof. Dr. med. Peter Altmeyer, Prof. Dr. med. Guido Gerken

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Last updated on: 29.10.2020

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Synonym(s)

Hereditary polyposis syndromes

Definition
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Genetically determined polyposis syndromes with disseminated polyps of the colon and possibly the entire gastrointestinal tract. These syndromes exhibit extracolonial symptoms at different frequencies (e.g. Peutz-Jeghers syndrome: lentiginosis of the skin and the mucous membranes close to the skin or in Gardner syndrome (epidermoid cysts, osteomas, desmoids). They require special diagnostic and possibly therapeutic attention.

Classification
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Depending on the syndrome, there is an obligatory precancerosis. In this respect, different diagnostic and therapeutic strategies must be followed.

Relevant polyposis syndromes are:

Diagnosis
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In case of a suspected clinical diagnosis, a genetic clarification and, if necessary, family consultation must be carried out. FAP patients are to be monitored endoscopically from the age of 10. Examination for extracolonic manifestations (see below for the individual entities). In the case of hamartose polyposis, preventive examinations from the 10th year of life.

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Cronkhite-canada syndrome;

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Last updated on: 29.10.2020