Peutz-Jeghers Syndrome or PJS is a very rare condition that leads to the development of hamartomatous polyps thoughout the gut.
Where does the name Peutz-Jeghers come from?
The name Peutz-Jeghers (PJ) describes the type of polyp that is seen in this condition and is named after a Dutch doctor (Jan Peutz) who first described the condition in 1921 and an American doctor (Harold Jeghers) who published the first definitive descriptive reports in 1949. PJ polyps are also grouped under the umbrella term of hamartomas due to the presence of extensive smooth muscle stranding through the polyp.
What causes these polyps to grow?
Peutz-Jeghers Syndome (PJS) is caused by a change or alteration in the STK11 gene on chromosome 19. PJS is a dominantly inherited condition, which means that each child, born to a person with PJS, has a 50% chance of inheriting the altered gene that causes it.
How is it diagnosed?
PJS is usually diagnosed following an endoscopic procedure. A polyp or several polyps will be seen and removed for the pathologist to look at in the laboratory. The pathologist will then confirm that the polyp is a PJS type polyp. At this point, the person may be referred to their local genetics service for genetic testing and entry into a specialist surveillance programme.
Children of PJS patients usually have genetic testing from a young age (around 1 year). This is because these types of polyps can sometimes grow quite large. In the small intestine this can cause symptoms such as cramping abdominal pain. This occurs because the gut is like a long piece of muscle. It moves food debris from the mouth to the anus via peristaltic waves. Sometimes the gut will mistake a polyp in the small bowel as food debris and try to propel it along the GI tract. Polyps in the small bowel can cause more problems due to the narrow diameter of the gut in this area. As the polyp is fixed, this can sometimes cause a problem called an intussusception. An intussusception is where the bowel slides inside itself (much like a telescope does when closed).
It is important to know if a child has PJS so that their parents know whether to seek medical advice for abdominal pain. Abdominal pain is a very common problem in childhood. If a child has PJS, however, then abdominal pain needs urgent medical attention to assess whether an intussusception has occurred. Sometimes this requires emergency surgery. We try to avoid this scenario as much as possible. Careful management of PJS patients aims to intervene with planned endoscopic surveillance (gastroscopy, capsule video endoscopy and colonoscopy, usually on a 3 yearly basis) and when necessary, a planned surgical procedure. This will reduce the number of operations for each person and therefore reduce intestinal adhesions or internal scar tissue.
What other problems does the STK11 gene cause?
A distinctive feature of PJS is freckling on the lips, oral mucosa, fingers and toes. These freckles are distinctive from the freckles of fair skinned people. PJS freckling tends to be darker in colour (often a blue/black colour) and usually appears around the age of 2 or 3. The freckles are completely harmless but can assist in making a diagnosis ins some cases.
From studying the lives of people with PJS it has become apparent that cancer arises more frequently in people with PJS than in the general population. Not everyone with PJS will get cancer and those who do cannot predict where it will occur. Understandably, people with PJS worry about this possibility and want to do everything possible to detect cancer at the earliest possible stage. We therefore recommend:
- Screening of the GI tract every 3 years (or more frequently if the patient develops lots of polyps) with OGD, small bowel capsule endoscopy (VCE) and colonoscopy
- Breast screening from the age of 30 years (as per current NICE guidelines)
- Cervical smear tests as per the national sceening programme
- Haemoglobin check every year
- Self examination of breast and testes to check for unusual lumps
We also advise that unusual lumps or any symptoms that are not normal for a particular person should be taken seriously and not just be considered as ‘one of those things’. This should be reported to the specialist doctor as soon as possible.
We do not, however, recommend the following as screening tools but only if there is an unusual symptom:
- Pelvic or testicular USS
- CT scan of the pancreas
- the use of tumour markers