Hirschsprungs Disease

Overview

Hirschsprung's disease is a condition a baby is born with. In a normal bowel, tiny nerve cells sit in the wall of the intestine and tell the muscles to squeeze and push stools along. In Hirschsprung's disease, these nerve cells are missing from a section of the large bowel (the colon). Without them, that part of the bowel stays tight and cannot relax, so stool gets stuck behind it. This can cause a blockage, a swollen belly and severe constipation. It is not caused by anything a parent did or did not do during pregnancy, and it is not a sign that a child has been badly cared for.

It is uncommon. About 1 in every 5,000 babies is born with Hirschsprung's disease, which means most family doctors will only see a few cases in their whole career.

It affects newborn babies and young children. It is about four times more common in boys than in girls. It is sometimes seen alongside other genetic conditions, such as Down syndrome. In rare cases it is not found until a child is older, or even in adulthood.

Symptoms

Common symptoms

• A newborn not passing their first dark, sticky poo (called meconium) within the first 48 hours of life
• A swollen, tight or uncomfortable tummy
• Vomiting, especially green or yellow-green vomit, which is bile
• Refusing feeds or feeding poorly
• Slow weight gain or poor growth
• Constipation that does not get better with the usual treatments
• Explosive, watery, very smelly stools, which can be a warning sign of a bowel infection

Symptoms in children

• Constipation that has been there since birth or early infancy
• Needing laxatives or suppositories for a long time with little improvement
• A round, bloated tummy
• Poor appetite and slow growth
• Soiling or leaking stool, because soft stool slips past the blocked part
• Tiredness and signs of not getting enough fluids

Symptoms in older adults

• Long-standing severe constipation that has been present since childhood
• Bloating and a feeling of not emptying the bowel
• Needing large amounts of laxatives for years with limited effect
• This is very rare — most cases are found in babies, and adult diagnosis is unusual

Causes

Main causes

• During pregnancy, the nerve cells that should line the bowel wall do not move down into the lower bowel as they should. The reason this happens is not fully understood.
• Because that section of bowel has no nerve cells, the muscle cannot relax. Stool builds up behind it and causes a blockage.
• In many cases, certain genes are involved, and the condition sometimes runs in families.
• It is not caused by diet, stress, infection, or anything a parent did during pregnancy.

Risk factors

• A family history of Hirschsprung's disease — a brother or sister with the condition raises the chance
• Being male
• Having certain genetic conditions, such as Down syndrome
• Having other birth differences, particularly of the heart or bowel
• A longer section of bowel being affected, which tends to cause symptoms sooner

When to see a doctor

See a doctor urgently if:

• Your newborn has not passed their first poo within 48 hours
• Your baby has a swollen tummy, is vomiting, or is feeding poorly
• Your child has constipation that is not improving with treatment
• There is blood in your child's stool
• Your child is not gaining weight or is losing weight

Book a routine appointment if:

• Your child has had constipation problems since early infancy
• Toilet training is proving very difficult, or your child soils their pants
• You are worried about your child's growth or appetite
• You have a family history of Hirschsprung's disease and want to talk about what this means for your family

Diagnosis

A doctor will start by asking about your child's symptoms and when they began, then examine your child's tummy and overall health. If Hirschsprung's disease is suspected, your child will usually be referred to a specialist children's team for tests. A diagnosis is confirmed with a biopsy, where a very small sample of tissue is taken from the wall of the rectum (the lowest part of the bowel) and checked for nerve cells.

Tests that may be done

• Physical examination, including checking growth, feeding and the tummy
• An X-ray of the tummy, which can show a swollen bowel
• A contrast enema — a small amount of liquid is gently passed into the bottom and X-rays are taken to show the shape of the bowel
• A rectal biopsy — a tiny sample of tissue is taken from inside the bottom and examined under a microscope; this is the test that confirms the diagnosis
• In older children, a test that measures how well the muscles of the bottom work
• Blood tests to check for dehydration and general health

What to expect at your appointment

The tests can take a few days to arrange and get results for, and your child may need to stay in hospital while this happens. Some tests can feel uncomfortable, but staff are used to helping babies and children through them, and you will usually be able to stay close by. Waiting for results is stressful, so ask questions and lean on the team looking after you.

Treatment

The main treatment is surgery, carried out by a specialist children's surgical team. Before surgery, the bowel often needs to be cleared out. This is done with gentle washouts or enemas, along with fluids given through a drip if your child is dehydrated. Most children are treated within the first few months of life.

Self-care at home

• Follow the bowel management plan your child's team gives you — it is designed for your child specifically
• Keep all follow-up appointments, even when things seem to be going well
• Make sure your child drinks plenty of fluids and eats a balanced diet with fibre
• Keep a simple note of your child's poo pattern so you can describe any changes to the team
• Use gentle, fragrance-free cleaning and a barrier cream around the bottom to protect the skin
• Wash hands carefully after nappy changes and toilet visits
• Encourage relaxed, unhurried time on the toilet after meals for children who are toilet training

Medical treatments

Surgery is the definitive treatment. The surgeon removes the section of bowel that is missing nerve cells and joins the healthy bowel to the anus — this operation is often called a pull-through. In some babies, especially if they are very unwell or very small, the bowel is first brought out through the tummy wall into a bag (a stoma) and joined up later in a second operation. After surgery, some children still need help to keep their bowel movements regular. This may include stool-softening or laxative medicines prescribed by the specialist team, changes to diet and fibre, and a personalised bowel management plan. Some children need gentle washouts into the bottom to empty the bowel. Your child's team will explain all of these options and adjust them as your child grows.

When is surgery considered?

Surgery is usually planned within the first few months of life once the diagnosis is confirmed. Sometimes it needs to happen sooner, for example if the bowel is completely blocked or if a serious bowel infection (enterocolitis) develops.

Living with this condition

Life after treatment usually settles into a routine, but many families find the first year or two takes some adjusting. Some children have constipation, loose stools, wind or soiling, and toilet training may take longer than for other children. These problems usually improve with time and with the right bowel management plan. Keep in close touch with your child's specialist team — small changes to the plan can make a big difference.

Lifestyle tips

• Build a predictable routine for meals, drinks and toilet time
• Keep school or nursery informed in a simple, private way so your child has support and access to the toilet when needed
• Pack spare clothes and wipes for outings without making a fuss about it
• Encourage play and physical activity as normal — there is usually no need to limit it
• Keep a written record of medicines, appointments and questions so nothing gets lost

Diet and exercise

A balanced diet with plenty of fibre and fluids helps keep stools soft and easy to pass. Fibre comes from fruit, vegetables, wholegrains, beans and lentils. Offer water regularly through the day. Some children need a higher-calorie diet for a while if they have been slow to grow, so follow any advice from your child's dietitian. Everyday activity — running about, swimming, cycling, playing — helps the bowel work well and is good for mood too.

Mental health and emotional wellbeing

Bowel problems can be upsetting for children and exhausting for parents. Children may feel embarrassed about accidents or worried about school trips, and parents often carry a lot of worry and guilt, even though nothing they did caused this condition. These feelings are normal and worth talking about. If you or your child feels low, anxious or overwhelmed, tell your doctor or your child's care team — support is available. If you or your child are in crisis or having thoughts of harming yourself, contact your local crisis service or your local emergency number straight away.

Prevention

Hirschsprung's disease cannot be prevented — it develops before birth, and nothing a parent does or does not do during pregnancy causes it. If you have a family history of the condition, it is worth talking to your doctor about genetic counselling before or during a pregnancy, so you understand the chances and what monitoring may be offered.

Screening programmes

There is no routine screening test for Hirschsprung's disease. Ultrasound scans in pregnancy do not usually detect it. The most important thing is early recognition of symptoms after birth — particularly a baby not passing their first poo within 48 hours — so that a diagnosis can be made quickly if it is needed.

Complications

If left untreated

• A blocked bowel, which can become a medical emergency
• Enterocolitis — a serious infection and inflammation of the bowel that can make a baby very unwell very quickly
• A hole (perforation) in the bowel wall
• Severe dehydration and problems with feeding and growth
• Long-term bowel problems if treatment is delayed

Long-term outlook

The outlook is generally good. Most children who are treated do well, grow normally and take part in everything their friends do. Some children need ongoing help with constipation, soiling or toilet training, and a small number need further surgery. With regular follow-up and a good bowel management plan, the great majority of children and families find a routine that works for them.

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