Hereditary Gastrointestinal Polyposis Syndromes RDCN

Hereditary gastrointestinal polyposis syndromes (HGPS) are a group of rare diseases that cause the development of numerous polyps or abnormal growths in the gastrointestinal tract. These polyps may be precancerous and therefore, the risk of developing cancer (specifically colorectal cancer) increases. With some of these conditions, polyp formation may begin as early as childhood or adolescence.

Each syndrome is associated with different genetic changes:

  • Familial Adenomatous Polyposis (FAP) – Caused by genetic changes in the APC gene. Out of all the syndromes, FAP holds the greatest risk for developing colorectal cancer.-
  • MUTYH-Associated Polyposis (MAP) – Results from genetic changes in the MUTYH gene and increases colorectal cancer risk.
  • Peutz-Jeghers Syndrome (PJS) – Due to genetic changes in the STK11 gene and associated with polyps in the stomach, breast, small intestine and colon. This condition is classically associated with freckles around the mouth.
  • Juvenile Polyposis Syndrome (JPS) – Caused by genetic changes in BMPR1A or SMAD4, leading to gastrointestinal polyps and increased cancer risk.
  • Polymerase proofreading associated polyposis (PPAP) – Associated with genetic changes in the POLE and POLD1 gene. It increases the risk of a large range of cancers.
  • Familial Adenomatous Polyposis (FAP) – Caused by genetic changes in the APC gene. Out of all the syndromes, FAP holds the greatest risk for developing colorectal cancer.
  • MUTYH-Associated Polyposis (MAP) – Results from genetic changes in the MUTYH gene and increases colorectal cancer risk.
  • Peutz-Jeghers Syndrome (PJS) – Due to genetic changes in the STK11 gene and associated with polyps in the stomach, breast, small intestine and colon. This condition is classically associated with freckles around the mouth.
  • Juvenile Polyposis Syndrome (JPS) – Caused by genetic changes in BMPR1A or SMAD4, leading to gastrointestinal polyps and increased cancer risk.
  • Polymerase proofreading associated polyposis (PPAP) – Associated with genetic changes in the POLE and POLD1 gene. It increases the risk of a large range of cancers.

Genetic testing is the test to diagnose these conditions. Patients are recommended to undergo routine camera test screenings through Colonoscopy (for the large bowel) and Endoscopy (for the stomach and small bowel) to monitor the number and speed of growth of any polyps. Management of these conditions may include surgery. Family members will be offered testing to see if they have the same condition.

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What is Hereditary Gastrointestinal Polyposis Syndrome Rare Collaborative Network (RDCN)?

The Rare Disease Collaborative Network brings together clinicians with a particular expertise in managing specific rare diseases. Due to the rarity of the conditions, the diagnosis and management of people with the Hereditary gastrointestinal polyposis syndrome (HGPS) is often fragmented. RDCNs are made up of Rare Disease Collaborative Centres (RDCCs), which work together to provide the best possible health care for patients with Hereditary gastrointestinal polyposis syndromes. Recognised specialist centres include University Hospitals Birmingham NHS Foundation Trust, Royal Infirmary of Edinburgh NHS Lothian, Manchester University Hospitals Foundation Trust and St Mark’s Hospital (London Northwest University Healthcare NHS Trust). Other recognised centres include Cardiff, South West/Peninsula and Southampton.

The aim is for each patient to be seen or discussed by the Specialist Centre. Each centre will hold a monthly multi-disciplinary team (MDT) meeting to discuss each patient amongst a group of expert doctors to make key decisions, such as timing of surgery or management of polyps. Whilst these meetings are held in the central location, they will discuss cases from around the region. In the North West, the MDT RDCC is hosted by Manchester University Hospitals Foundation Trust, our team is comprised of expert endoscopists, colorectal surgeons, clinical genetics, and genetic counsellors from both Manchester and Liverpool

Timothy Harvey – University of Manchester medical student