Polyposis syndromes, hereditary

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

All authors of this article

Last updated on: 08.11.2024

Dieser Artikel auf Deutsch

Synonym(s)

Hereditary polyposis syndromes

Definition
This section has been translated automatically.

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
This section has been translated automatically.

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

Relevant polyposis syndromes are:

Clinical features
This section has been translated automatically.

Mostly asymptomatic incidental finding as part of a colon diagnosis. The polyps become clinically conspicuous due to bleeding, obstruction or carcinomatous degeneration.

Diagnostics
This section has been translated automatically.

Digital rectal examination, recto/colonoscopy. In the case of larger rectal adenomas, rectal endosonography to clarify endoscopic removability

Possibly MRI sellink of the small bowel and video capsule endoscopy to detect small bowel polyps in polyposis syndromes.

Important: the entire colon should always be searched for further adenomas: complete colonoscopy required (detection of > 1 adenoma in 1/3 of cases).

Diagnosis
This section has been translated automatically.

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.

Therapy
This section has been translated automatically.

The aim must always be to completely remove the adenoma in healthy tissue. The method used depends on the size and risk of carcinoma:

- Adenomas: ≤ 5 mm: ablation with biopsy forceps + histology

> 5 mm: Loop ablation in toto with base + histology

Larger adenomas that cannot be safely removed completely by snare can be removed by various surgical procedures:

  • Transanal endoscopic microsurgery (TEM)
  • Endoscopic submucosal dissection (ESD)
  • laparoscopic or conventional resection procedures.

Note(s)
This section has been translated automatically.

A polyp is any macroscopically recognizable tissue proliferation of the mucosa that rises above the level of the mucosa and thus protrudes into the lumen. Depending on the nosology and prognosis, a distinction is made between:

  • Non-neoplastic polyps
  • Neoplastic polyps. These are referred to as epithelial tumors, also known as adenomas.

Disclaimer

Please ask your physician for a reliable diagnosis. This website is only meant as a reference.

Authors

Last updated on: 08.11.2024