Aganglionosis – what are the signs and symptoms of Hirschsprung’s disease?

Hirschsprung's diseas
Hirschsprung’s diseas

By Marvin 101 – Own work, CC BY-SA 3.0, https://commons.wikimedia.org/w/index.php?curid=4670973

Hirschsprung’s disease is a rare condition that causes poo to become stuck in the bowels. It mainly affects babies and young children.

Normally, the bowel continuously squeezes and relaxes to push poo along, a process controlled by your nervous system.

In Hirschsprung’s disease, the nerves that control this movement are missing from a section at the end of the bowel, which means poo can build up and form a blockage.

This can cause severe constipation, and occasionally lead to a serious bowel infection called enterocolitis if it’s not identified and treated early on.

However, the condition is usually picked up soon after birth and treated with surgery as soon as possible.

 

Symptoms of Hirschsprung’s disease

Symptoms of Hirschsprung’s disease are usually noticeable from soon after a baby is born, although occasionally they’re not obvious until a child is a year or two old.

Signs of the condition in a baby include:

failing to pass meconium within 48 hours – the dark, tar-like poo that healthy babies pass soon after being born

a swollen belly

vomiting green fluid (bile)

Signs in older infants and children include:

a swollen belly and a tummy ache

persistent constipation that doesn’t get better with the usual treatments

not feeding well or gaining much weight

If your child develops a bowel infection (enterocolitis), they may also have a high temperature (fever) and watery, foul-smelling diarrhoea.

When to get medical advice

Visit your GP if your child develops the symptoms described above. Hirschsprung’s disease can be serious if left untreated, so it’s important to get help as soon as possible.

If your GP suspects the condition, they will refer you to hospital for tests to confirm the diagnosis.

How Hirschsprung’s disease is diagnosed

Your child’s tummy will usually be examined and sometimes a rectal examination may be carried out. This is where a doctor or nurse inserts a finger into the back passage (rectum) to feel for abnormalities.

If Hirschsprung’s disease is suspected, an X-ray can be done to show a blockage and bulge in the bowel.

The diagnosis can be confirmed by doing a rectal biopsy, which involves inserting a small instrument into your child’s bottom to remove a tiny sample of the affected bowel.

This is then examined under the microscope to see if the nerve cells are missing.

What causes Hirschsprung’s disease?

The muscles of the bowel are controlled by nerve cells called ganglion cells. In Hirschsprung’s disease, these ganglion cells are missing from a section at the end of bowel, extending up from the anus, the opening in the bottom that poo passes through.

For some reason, the cells didn’t develop in that area when the baby was growing in the womb. It’s not clear why this happens, but it’s not thought to be caused by anything the mother did while she was pregnant.

A number of genes are associated with Hirschsprung’s disease and it does sometimes run in families. If you’ve had a child with it before, you’re more likely to have another child with it.

The condition is occasionally part of a wider genetic condition, such as Down’s syndrome, but most cases aren’t.

Treatments for Hirschsprung’s disease

All children with Hirschsprung’s disease will need surgery.

As they wait for surgery, they may need to:

stop having milk feeds and instead be given fluids directly into a vein

have a tube passed through their nose and into their stomach to drain away any fluid and air collecting in it

have regular bowel washouts, where a thin tube is inserted into their bottom and warm salt water is used to soften and flush out the trapped stools

take antibiotics if they have enterocolitis

Your child may need to stay in hospital during this time, or you may be able to look after them at home. Your doctor will advise you about this.

Surgery

Most children will have the “pull-through” operation, where the affected section of bowel is removed and the remaining healthy sections of bowel are joined together. This will usually be done when they’re around three months old.

If your child isn’t well enough to have this procedure – for example, because they have enterocolitis or a severe blockage – they may have it in two stages.

A few days after birth, the surgeon will divert the bowel through a temporary opening (stoma) made in the tummy. This procedure is called a colostomy formation.

Stools will pass directly out of the opening into a pouch worn on your child’s body until they’re well enough to have another procedure to remove the affected section of bowel, close the opening, and join the healthy sections of bowel together. This is usually done at around three months of age.

These procedures can be done using either:

laparoscopic (keyhole) surgery – this involves inserting surgical instruments through tiny cuts

open surgery – where a larger cut is made in your child’s tummy

Speak to your surgeon about the best option for your child.

Risks of surgery

No surgery is risk-free. There’s a small chance of:

bleeding during or after the operation

the bowel becoming infected (enterocolitis)

bowel contents leaking into the body, which could lead to serious infection (peritonitis) if not treated quickly

the bowel becoming narrowed or blocked again, requiring further surgery

Recovery from surgery

Your child will probably need to stay in hospital for a few days after surgery. They’ll be given pain-relieving medicine to make them comfortable and fluids into a vein until they can manage food.

No special diet is needed once you get home, but it’s important they drink plenty of fluids as they recover.

Your child should recover well and their bowels should function normally after surgery.

At first they’ll probably have a sore bottom when they poo. It can help to leave their bottom open to the air whenever possible, and use baby oil to gently clean their bottom as well as nappy cream after each change.

Call your doctor immediately if your child develops problems such as a swollen belly, fever, or foul-smelling diarrhoea.

Outlook for Hirschsprung’s disease

Most children are able to pass stools normally and have a normal functioning bowel after surgery, although they may take a bit longer to toilet train.

Some may experience persistent constipation and need to follow a high-fibre diet and take laxatives. Your doctor will advise about this treatment.

A small number of children have problems controlling their bowels (bowel incontinence), which can last until they’re a teenager and be very distressing.

Speak to your GP if this is a problem. You can also read advice about soiling in children.

Information about your child

If your child has been affected by Hirschsprung’s disease, your clinical team will pass information about him or her on to the National Congenital Anomaly and Rare Diseases Registration Service (NCARDRS).

This helps scientists look for better ways to prevent and treat this condition. You can opt out of the register at any time.

GERD: What is it and Who Does It Affect?

Gastroesophageal reflux disease or GERD
Gastroesophageal reflux disease or GERD

GERD (gastroesophageal reflux disease) is a chronic digestive disorder which affects the lower esophageal sphincter. The lower esophageal sphincter is a ring of muscle that is located at the top of the stomach, it acts like a valve to prevent undigested food and acid from escaping back into the esophagus.

During normal digestion, the lower esophageal sphincter opens up when you swallow, enabling liquids and food to move from the esophagus into the stomach. The lower esophageal sphincter then closes so that it can prevent the stomach`s contents from escaping. In people with GERD, the lower esophageal sphincter doesn’t close properly or becomes relaxed. This allows food and gastric juices to move back into the esophagus and cause troublesome symptoms. Several factors may explain why gastroesophageal reflux occurs and may offer some clues for relief. The most important factors are:

The position of the body after eating or drinking (An upright body posture helps to prevent reflux)

The size of a meal (Smaller meals minimize reflux)

The nature of the foods you eat (Certain substances which weaken the sphincter or irritate the esophagus can cause reflux.)

Symptoms of GERD

The most common symptom of gastroesophageal reflux disease is heartburn, a burning feeling which occurs just behind the breastbone. Other gastroesophageal reflux disease symptoms may include:

Difficulty swallowing

Chest pain

A bitter or sour taste in the back of the mouth

Regurgitation of acid or food

Sore throat

Waterbrash (sudden excess of saliva)

Hoarseness

Inflammation of the gums

Dysphagia (the sensation of food getting stuck in the esophagus)

Bad breath

Laryngitis

Dry cough

Feeling of a lump in the throat

Who is more likely to have GERD?

Anybody can develop gastroesophageal reflux disease, some for unknown reasons. Factors which contribute to this medical condition include abnormal esophageal contractions, slow emptying of the stomach and structural abnormalities of the lower esophageal sphincter. You`re more likely to have gastroesophageal reflux disease if you`re:

Obese or overweight

Taking certain medications

A pregnant woman

A smoker or somebody who is exposed to secondhand smoke regularly

When should I see a doctor?

If you experience heartburn more than 2 times a week, frequent chest pains after eating, persistent nausea, trouble swallowing, and sore throat or a cough that`s unrelated to illness, you might have gastroesophageal reflux disease. For proper diagnosis and treatment, you should be examined by a doctor.

What Is the Treatment for GERD?

Treatment of GERD involves a stepwise approach and usually includes lifestyle and dietary changes, and medications. In severe cases, surgery may be required. The goals of GERD treatment are to:

Reduce reflux or backflow, of stomach juices and acid into the esophagus.

Prevent damage to the mucosal lining of the esophagus, or helping to heal the mucosal lining if damage has occurred.

Manage or prevent health problems and complications which can happen because of GERD, such as stricture or Barrett’s esophagus.

Maintain the symptoms of GERD in remission so that the daily life of the patient is minimally affected or unaffected by reflux.

Doctors recommend dietary and lifestyle changes for most individuals requiring treatment for GERD. Avoiding beverages and foods which can weaken the lower esophageal sphincter is normally recommended. The foods include peppermint, chocolate, coffee, alcoholic beverages and fatty foods. Beverages and foods which can irritate the damaged esophageal lining, like pepper, citrus juices and fruits, and tomato products, should be avoided if they cause GERD symptoms.

Decreasing the size of meal portions can also help to control GERD symptoms. Eating your meals at least two to three hours before bedtime can lessen the reflux by allowing the stomach acid to decrease and the stomach to empty partially. Additionally, being overweight or obese normally worsens symptoms. Most overweight individuals find relief when they lose weight.

Sleeping on a wedge that has been specially designed or raising the head of your bed on six-inch blocks minimizes heartburn by allowing gravity to reduce reflux of the contents of the stomach into the esophagus. Don`t use pillows to prop your body up; this only increases pressure on your stomach.

Along with diet and lifestyle changes, your physician might recommend prescription medications or over the counter treatments.

Antacids can help to neutralize the acid in the stomach and esophagus and stop heartburn. Most people find that non-prescription antacids only provide partial or temporary relief. An antacid that`s combined with a foaming agent can help some people. Foaming agents are believed to create a foam barrier on top of the stomach which prevents acid reflux.

However, long term use of antacids can result in various side effects, including the buildup of magnesium in the body, altered calcium metabolism, and diarrhea. A lot of magnesium can cause serious health problems in people with kidney disease. If they are required for more than two weeks, a medical doctor should be consulted.

For chronic heartburn and reflux, the doctor can recommend thingsthat reduce acid in the stomach. ).

Another kind of drug, the acid pump inhibitor (or proton pump inhibitor), inhibits an enzyme that`s necessary for the secretion of gastric acid in the stomach.

Surgery is recommended for severe GERD cases. Surgical therapy normally removes the nerves which help produce gastric acid.

The problems which might occur after surgical procedures include flatulence or gas, difficulty in swallowing, difficulty in burping and bloating.

 Are there long-term health problems associated with GERD?

GERD can damage the lining of the esophagus, and this may cause esophagitis (inflammation), although normally it doesn`t. GERD can also lead to Barrett’s esophagus, a pre-cancerous medical condition which requires periodic endoscopic surveillance for the development of cancer.

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This include signs, symptoms , causes and treatments of Irritable Bowel Syndrome as well.

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