17362 Peutz Jeghers Syndrome Pjs

Overview

Peutz-Jeghers syndrome (often called PJS) is a rare, inherited condition. It causes harmless growths called polyps to form in the digestive tract. It also causes dark spots on the lips, inside the mouth, and on the hands or feet. People with PJS have a higher chance of developing these polyps and certain cancers, so regular check-ups are very important.

No. PJS is very rare. It affects around 1 in 50,000 to 200,000 people worldwide.

PJS can affect anyone, but it often runs in families. If a parent has PJS, each child has a 50% chance of inheriting the condition. The spots may appear in childhood, and the first bowel symptoms usually happen during the teen years or early adulthood.

Symptoms

Common symptoms

• Dark blue or brown spots on the lips, inside the mouth, around the eyes, on the fingers or toes
• Pain in the belly (abdomen) that comes and goes
• Bleeding from the back passage or dark, sticky stools
• Feeling tired and weak from low iron (anaemia)
• Stomach cramps, nausea, or feeling full quickly after eating

Symptoms in children

• Spots on the lips and mouth are often the first sign in babies or young children.
• A child may have sudden belly pain from a polyp that blocks the bowel.
• Vomiting, a swollen belly, or being unable to poo or pass wind can be an emergency.

Symptoms in older adults

• Polyps tend to come back and may become larger, so ongoing check-ups are needed.
• Older adults with PJS have a higher risk of cancer in the digestive system and other organs, so screening is important.

Causes

Main causes

• A change (mutation) in the STK11 gene is the main cause of PJS.
• This gene helps keep cell growth under control, so when it isn’t working properly, polyps can grow.

Risk factors

• Having a parent or sibling with PJS.
• Inheriting the changed gene from a parent. If a parent has it, each child has a 50% chance.

When to see a doctor

See a doctor urgently if:

• If you or your child have severe belly pain, vomiting, or signs of a bowel blockage, get emergency medical help right away.

Book a routine appointment if:

• If you know you have PJS or a family history of it, see your GP regularly and ask about a referral to a specialist.

Diagnosis

A doctor will examine you, look for the typical dark spots, ask about your family history, and arrange tests to look for polyps.

Tests that may be done

• Colonoscopy – a tube with a camera is passed into the large bowel to see polyps.
• Gastroscopy – a test to look at the stomach and the first part of the small bowel.
• Capsule endoscopy – you swallow a small camera pill that takes pictures of the small intestine.
• Genetic blood test – looks for the changed STK11 gene.

What to expect at your appointment

You will usually be referred to a gastroenterology specialist. They will explain your test results and set up a personal screening schedule. Genetic counselling is also offered to discuss what the syndrome means for you and your family.

Treatment

Treatment focuses on removing polyps when they appear, preventing bowel blockages, and screening for cancer. There is no cure for PJS, but with the right care, most people stay healthy.

Self-care at home

• Keep a record of any symptoms like pain, bleeding, or changes in your toilet habits.
• Eat a balanced diet with enough fluids to keep your bowels moving.
• Attend every appointment and do not skip endoscopic checks.

Medical treatments

Your doctor may prescribe iron supplements for anaemia or medication to reduce stomach acid, depending on your needs. Sometimes a pill or enema is used to empty the bowel before tests. Your specialist will discuss what is right for you. Note: Always take any medicine exactly as your doctor prescribes.

When is surgery considered?

If a polyp becomes very large, blocks the bowel, or has signs of cancer, surgery may be needed to remove it. This is usually done through small cuts in the belly (laparoscopy) to keep recovery as quick as possible.

Living with this condition

The most important part of living with PJS is following a regular surveillance plan. You will have check-ups every 2 to 3 years, or more often if you have symptoms. These checks can be done under sedation, so you won't feel pain.

Lifestyle tips

• Tell close family members about your diagnosis so they can also discuss testing with their doctor.
• Stop smoking and limit alcohol – this lowers general cancer risk.
• Know the signs of bowel blockage and get help early.

Diet and exercise

Eat plenty of fruits, vegetables and whole grains to keep your digestion regular. Being active is good for your overall health and helps you maintain a healthy weight. If you notice cramping after meals, speak to your doctor.

Mental health and emotional wellbeing

It's normal to feel worried about PJS because of the cancer risk. Talk to your doctor or a psychological therapist if you feel anxious. Connecting with others who have a similar condition can also help.

Prevention

The gene change itself cannot be prevented, but you can prevent many complications by starting screening early and removing polyps before they cause trouble.

Vaccines

There is no vaccine for PJS. Stay up to date with routine vaccines to protect your overall health.

Screening programmes

If you have PJS, your doctor will recommend regular colonoscopy and gastroscopy starting in your late teens or early 20s, and sometimes capsule endoscopy. Women may also need breast and pelvic screening starting at a younger age. Follow the plan your specialist gives you.

Complications

If left untreated

• A large polyp can cause a bowel obstruction – a medical emergency.
• Polyps may bleed, causing iron-deficiency anaemia.
• People with PJS have a higher risk of certain cancers, including of the colon, stomach, pancreas, breast, ovary, cervix and lung.

Long-term outlook

Although PJS is a serious condition, most people who follow their screening plan do very well. Polyps can be removed before they cause damage, and cancers can be detected early when they are more treatable. Many people with PJS live into their 70s and beyond.

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