You are here

Article Text

Article menu
Download PDFPDF
Leading article
Screening for familial adenomatous polyposis
  1. WARREN HYER, Consultant Paediatrician
  1. JOHN M E FELL, Consultant Paediatric Gastroenterologist
  1. Northwick Park Hospital, and
  2. Honorary Consultant Paediatrician to St Mark's Polyposis Registry
  3. St Mark's Hospital, Watford Road
  4. Harrow, Middx HA1 3UJ, UK
  5. warrenhyer@aol.com
  6. Chelsea and Westminster Hospital, and
  7. Honorary Senior Lecturer
  8. Imperial College School of Medicine, London, UK

https://doi.org/10.1136/adc.84.5.377

Statistics from Altmetric.com

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

    When a serious genetic disorder is diagnosed in the family, an immediate question arises: are other family members at risk? Ethical issues arise when DNA technology allows testing of children for a condition which is unlikely to have significant morbidity until later life. Familial adenomatous polyposis (FAP) exemplifies this dilemma. A rational approach to screening requires both an understanding of the natural history of the condition and an acknowledgement of the ethical issues involved.

    Natural history and presentation

    FAP is the most common of the hereditary polyposis syndromes. Patients typically develop multiple adenomas throughout the large bowel, usually more than 100 and sometimes more than 1000. By the fifth decade colorectal cancer is almost inevitable if colectomy is not performed. Adult patients with FAP are also at increased risk of malignancies of the duodenum, ampulla of Vater, thyroid, and pancreas. Children under 5 years of age may develop hepatoblastoma. Patients with Turcot's syndrome have FAP associated CNS tumours.

    There are three ways in which a patient with FAP may present to the paediatrician.

    (1) Some will present with colorectal symptoms such as bleeding or diarrhoea.

    (2) A minority present with extracolonic manifestations (table 1). General paediatricians treating a child with an unusual lesion such as maxillary osteoma or epidermoid skin cysts (Gardner's syndrome) or a rare tumour such as hepatoblastoma or desmoid tumour should consider the possibility of FAP,1 particularly if there are multiple tumours or another sibling is affected.

    View this table:
    • In this window
    • In a new window
    Table 1

    Extracolonic manifestations of FAP in children and young adults

    (3) Most will be called for screening because of a positive family history.

    Colectomy is the only effective therapy that eliminates the inevitable risk of colorectal cancer. In the absence of severe dysplasia, colectomy is usually performed in mid to late teens or early 20s to accommodate work and school schedules. Some clinicians advocate …

    View Full Text