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The patient with multiple intestinal polyps.

Karsten Schulmann1, Christian Pox, Andrea Tannapfel

  • 1Ruhr-University Bochum, Medical Department, Knappschaftskrankenhaus, Bochum, Germany.

Best Practice & Research. Clinical Gastroenterology
|June 5, 2007
PubMed
Summary
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Accurate classification of intestinal polyps is crucial for managing polyposis syndromes, which increase extracolonic cancer risk. This review outlines diagnostic approaches for various polyposis syndromes, including familial adenomatous polyposis (FAP).

Area of Science:

  • Gastroenterology and Genetics

Background:

  • Polyposis syndromes are rare but significantly increase extracolonic cancer risk.
  • Accurate classification of intestinal polyps is essential for effective patient management.
  • Severe gastric polyposis presents diagnostic and therapeutic challenges.

Purpose of the Study:

  • To review various polyposis syndromes and present a diagnostic algorithm for gastrointestinal polyposis.
  • To guide the classification and management of patients with multiple intestinal polyps.
  • To highlight the importance of histological typing, family history, and genetic testing.

Main Methods:

  • Review of polyposis syndromes including familial adenomatous polyposis (FAP), attenuated FAP (AFAP), MYH-associated polyposis (MAP), Peutz-Jeghers syndrome, and juvenile polyposis.
  • Diagnostic workup based on histological polyp typing and detailed family history.

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  • Genetic testing recommendations: APC gene germline testing, followed by MYH gene testing if APC is negative.
  • Panintestinal imaging including EGD, colonoscopy, and small bowel imaging (PE, CE, MR enteroclysis).

    • Main Results:

    • Histological typing and family history are key to initial diagnosis.
    • Younger age and higher polyp count suggest typical FAP, while older age and fewer polyps favor AFAP or MAP.
    • Extraintestinal features and reference histology are important for hamartomatous polyps.
    • Consultation with a familial colorectal cancer center is recommended for complex cases.

    Conclusions:

    • A systematic diagnostic algorithm integrating histology, family history, genetic testing, and imaging aids in correct classification of polyposis syndromes.
    • This approach facilitates adequate treatment and management for patients with gastrointestinal polyposis.
    • Early and accurate diagnosis is vital for mitigating cancer risks associated with polyposis syndromes.