FAP – Familial Adenomatous Polyposis

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FAP – Familial Adenomatous Polyposis
Clinical registry of patients with familial adenomatous polyposis (FAP).

start of the project: January 2008

Familial adenomatous polyposis (FAP) is an autosomal dominant inherited disorder characterised by the early onset of hundreds to thousands of adenomatous polyps throughout the colon. If left untreated, all patients with this syndrome will develop colon cancer by the age of 35-40 years. In addition, an increased risk exists for the development of other malignancies, mainly affecting the gastrointestinal tract. The genetic defect in FAP is a mutation in the adenomatous polyposis coli (APC) gene (autosomal dominant form) or the MUTYH gene (autosomal recessive form). The estimated prevalence of FAP in Europe is between 1/10,000 and 1/40,000. In most cases, the risk of colorectal cancer can be only eliminated by a timely planned prophylactic colectomy. Although FAP causes only about 1% of all cases of colorectal cancer, it is a very important topic for patients and their families, and a specialised care based on an effective multidisciplinary cooperation at the local, national and international levels is required.

The low incidence of FAP requires not only centralisation of care to facilities with enough experience of this issue, but also sharing data on FAP patients, preferably at both national and international levels. The history of national registries dates back to 1924 (St Mark’s Hospital in London); nowadays, most developed countries have their own registries of FAP patients.

Primary objective of the project:

  • Systematic collection of data on FAP patients in participating centres and analysis of these data.

Secondary objective of the project:

  • Improvements in care provided to FAP patients as a results of centralisation and standardisation of care in participating centres.

Other important information:

  • Expert guarantor: Jiří Cyrany, MD, PhD (2nd Department of Internal Medicine and Gastroenterology, University Hospital Hradec Králové)
  • Partners: 5 specialised centres in the Czech Republic