Education and research

Education

The Registry team provide in-house teaching and are invited to speak both nationally and internationally on polyposis syndromes, helping to raise awareness of these rare conditions.

The team writes guidelines for healthcare professionals and have produced a polyposis ‘app’ to help improve consistency in the care of polyposis patients. The team also provides written information and guidance for patients.

What happens following referral?

Endoscopy is an important part of the diagnosis, surveillance and treatment for polyposis patients. Our patients are referred at different stages of their treatment journey but often an initial endoscopy procedure will be requested by their consultant to fully assess the patient and decide on the most suitable treatment options.

St Mark’s Endoscopy is world renowned, being the only unit in the UK to achieve international recognition as a centre of excellence for endoscopy research and training. It was also the first unit in London to be accredited as a Bowel Cancer Screening centre in 2006 and is currently one of only six pilot sites in the UK for the Bowel Scope Screening programme, delivering the national bowel cancer screening programmes to the local population. St Mark’s has also developed regional and national referral services for polypectomy, video capsule endoscopy and double-balloon enteroscopy, and provides nationally accredited courses for the teaching and training of endoscopists.

A full range of therapeutic procedures are performed at St Mark’s, and cutting edge instruments and accessories combined with specialist endoscopy doctors and nurses allow the unit to ‘reach the parts other doctors cannot reach’ – comfortably and safely.

An endoscopic procedure allows the doctor or nurse to visually inspect your gastrointestinal tract using a video camera attached to the end of a long thin flexible tube. Upper Gastrointestinal Endoscopy (also known as OGD or Gastroscopy) includes examination of the oesophagus (food pipe or gullet), stomach and duodenum (the first part of the small bowel). Lower Gastrointestinal Endoscopy (colonoscopy or flexible sigmoidoscopy) is an examination of the colon (large bowel). We are also able to visualise the entire small bowel using either an easily swallowed pill-sized camera (video capsule endoscopy) or specialist endoscopic equipment designed to navigate the small bowel (double-balloon enteroscopy).

Genetic testing

Genetic testing involves carrying out a blood test to look for an affected gene or genetic alteration that may be responsible for causing bowel polyps (known as diagnostic genetic testing). Some patients are referred having had genetic testing in their local centre whilst others are referred with multiple bowel polyps and will receive genetic counselling and testing at their initial appointment (if appropriate).

If we are able to locate the gene responsible for causing the bowel polyps then this is useful as it means family members can also be tested for the genetic alteration and if positive will be screened accordingly (known as predictive genetic testing). In around 20% of patients with multiple bowel polyps, however, we are unable to locate the gene responsible. In this situation, we will make a clinical diagnosis, based on the number and type of polyps found. For these patients, family members cannot have a blood test to predict whether they will also grow bowel polyps. In this situation, family members will be advised to undergo endoscopic screening.

Services for children and young people

Our Paediatric Gastroenterologist and Paediatric Nurse Practitioner run regular clinics for children and young people moving into adult care. Some patients with particular inherited conditions need to start their care before they become adults. Our Paediatric Gastroenterologist and Paediatric Nurse Practitioner run regular clinics for children and young people moving into adult care. We also have special endoscopy services for children and teenagers.

What we do?

Dr Hyer and Jackie Hawkins work together with the other nurses and doctors in the St Mark’s Centre for Familial Intestinal Cancer to support and look after children and young people with inherited syndromes. Dr Hyer also performs all the paediatric colonoscopy procedures when they are needed and Jackie arranges and coordinates the procedures. They also have clinics in the children’s department in Northwick Park Hospital. Dr Hyer will oversee a patient’s clinical care and Jackie will see children and young adults if they need to have any genetic blood tests performed.

What is our aim?

Our main aim is to keep all of the children and young people in our registry safe and to improve their experiences when they have to come into hospital, making sure that everyone has their appointments and colonoscopies at the right time.

Why was the Paediatric Nurse Practitioner role introduced?

  • To enhance the experience of children and young people attending appointment and procedures
  • To improve care and compliance with follow up
  • To increase patient satisfaction

Who do we see?

Children and young people from 0 to 18 years of age. Jackie will also see young people when they are over 18 years of age if it is felt that it is helpful and supportive for them.

What is transition?

Transition is a process starting from the age of approximately 14 years and continuing until each young person and their parent feels ready to be transferred into the adult service. We offer to see children in the outpatient department with an adult doctor and nurse present and we have introduced special ‘transition lists’ for adolescents who need to have regular colonoscopies performed.

Surgery

For patients with familial adenomatous polyposis (FAP), MYH associated polyposis (MAP) and sometimes for those with serrated polyposis syndrome (SPS), surgery is advised to prevent bowel cancer. This is usually offered when the number of polyps in the large bowel exceeds 100 and/or the polyps are growing above 1cm in size. For classical FAP this may be offered at the ages of 16-18 (quite often we perform surgery in the summer break between GCSE’s and A-Levels), for less severe forms of FAP (so called attenuated FAP), MAP and SPS, this may be offered at a later age if we become concerned about increasing polyp count.

Types of operations used

Colectomy with ileorectal anastamosis: This operation involves removing the colon (large bowel). The end of the small bowel (ileum) is then joined (anastamosed) to the top of the rectum. This is why it is called an ileo rectal anastamosis or IRA for short. This surgery leaves the rectum in situ. The rectum is part of the large bowel and polyps will continue to grow in this area. For this reason, patients are carefully selected for this operation and must agree to undergo 6 monthly endoscopic surveillance of the rectum following surgery. There is a chance that patients will grow too many rectal polyps in the future and need to undergo further surgery. In order to be suitable for this surgery, patients should have less than 500 colonic polyps and less than 20 rectal polyps at the time of surgery. They should not have a severe type of FAP (such as the 1309 mutation). Patients are carefully counselled with regard to the above issues. The benefits of having this surgery is that patients’ bowel function is usually very good following the operation (patients may open their bowels, on average, 2-4 times per day). In addition, female fertility is not usually affected.

Restorative proctocolectomy: This operation involves removing the colon and rectum. An artificial rectum, called a pouch, is made out of the lower end of the small intestine (ileum). The pouch is then joined to the anus so bowel actions can be controlled in the same way. The pouch stores the faeces until the person goes to the lavatory in the usual way. This operation is carried out in two stages. The first stage is where the colon and rectum is removed and the pouch is made and joined to the anus. The operation is quite complicated and it is important to allow the new pouch time to “rest” while it heals. This is done by creating a temporary ileostomy above the pouch. The stools will be collected in a bag, which is worn outside the body, on the abdomen (tummy). The bag will need emptying at certain times. After approximately 3 months, the ileostomy is closed by a second operation (stage 2) so that stools are again passed from the anus. Patients who are undergoing this type of surgery will be seen by one of the pouch nurses prior to the procedure and counselled regarding what to expect post surgery. Having a pouch means that usually people will open their bowels more frequently (on average 6-8 times per day) and sometimes at night. Following surgery, the pouch must be checked endoscopically on an annual basis to ensure no polyps are growing in the area. Again, patients must be carefully selected for this surgery. It is more complex surgery than the IRA and female fertility can be reduced following the operation. For this reason, it is usually only carried out for patients with a more severe form of FAP or MAP,  when a large number of large bowel polyps are seen at diagnosis.

Total colectomy with end ileostomy: This operation involves removing the entire large bowel, rectum and anus (bottom). The anus is then sewn up and a stoma is formed from the end of the small bowel. This stoma is called a permanent ileostomy or end ileostomy. It cannot be reversed in the future as everything below the level of the stoma has now been removed. This type of surgery is only performed in certain circumstances (e.g. a patient is referred with a low rectal cancer) and is not first-line surgery for polyposis patients.

Surgery for other Syndromes (Peutz-Jeghers and Juvenile Polyposis): The aim in Peutz-Jeghers Syndrome is to remove polyps in the small intestine before they become large and cause problems, such as intussusception. Usually this can be manged endoscopically with the use of a special endoscope called a double balloon endoscope (DBE). Surgery for Peutz-Jeghers is sometimes required, however, if the polyps are too large, there are too many of them or if a patient has scar tissue (adhesions) from previous abdominal surgery. A joint endoscopic and surgical procedure called a PJ laparotomy with on-table enteroscopy (clearance of small bowel polyps) is the type of operation used in this scenario. In Juvenile Polyposis, surgery is occasionally used. The stomach and large bowel are the two areas most commonly affected by large numbers of polyps and sometimes the surgeon will recommend a gastrectomy (removal of stomach) or partial gastrectomy or colectomy (as described above). In both these conditions, should surgery be needed, your surgeon and specialist nurse will discuss your options in more detail.

Research

We have research fellows attached to The Registry who carry out research on polyposis syndromes as part of their PhD work

What projects have we recently been working on?

Isabel Martin’s project is focused on the role of environmental factors on duodenal and pouch polyps in FAP. She will be using advanced methods of genetic testing and novel technologies to analyse fluid and tissue samples.

Chukwuemeka Anele’s area of research is inherited bowel cancer which includes evaluating methods of identifying Lynch syndrome on tissue samples such as endoscopic biopsies, lymph nodes or metastatic tissues; establishing a correlation between circulating tumour cell numbers and time to progression of bowel cancer in FAP and assessing the feasibility of remote monitoring of patients in the early post-operative period following elective bowel surgery.

Salman Rana is researching Serrated Polyposis Syndrome and working in collaboration with the Wellcome Centre in Oxford to try and find a genetic cause for this condition.

What other work are we involved with?

The Polyposis Registry is the secretariat for InSiGHT – The International Society for Gastrointestinal Hereditary Tumours. This is an international, multidisciplinary, scientific organisation. Their aim is to improve the quality of care of patients and families with any hereditary condition resulting in gastrointestinal tumours. Take a look at more of their work on the InSight Group website.