Symptoms of Hirschsprung Disease Explained in Detail

Understanding Hirschsprung Disease: Symptoms and Treatments

Hirschsprung disease is a congenital disorder affecting the colon, which leads to bowel movement difficulty. This difficulty is primarily caused due to missing nerve cells in the muscles of a large intestine. 

In this blog, we will understand the pathophysiology, diagnosis, and treatments available for a patient (both children and adults). 

What is Hirschsprung Disease?

Hirschsprung Disease in adults or children is a developmental disorder which causes difficulty in passing stool. Such difficulty arises due to the absence of nerve cells in the colon (a part of the large intestine) during birth. 

Nature defines the Hirschsprung disease pathophysiology as due to failure in the migration of neural crest cells during foetal development. HDAC 1 is a key regulator of genes that are associated with faulty neural crest cell movement. 

Symptoms of Hirschsprung Disease 

Hirschsprung’s disease symptoms are not the same in all age groups, and they usually depend on multiple factors. So, let us segregate the symptoms into newborn infants and older infants, children and adults. 

Hirschsprung’s Disease Symptoms In Newborn Infants

In the case of newborn infants, the disease typically presents as intestinal obstruction symptoms. The most general Hirschsprung’s disorder symptoms that almost all infants with the Disease present are as follows:

1. Not having first bowel movement in infants within the first 48 hours after birth
2. Green or brown-coloured vomit
3. Explosive diarrhoea, or stools, after inserting a finger in the infant’s rectum

These symptoms directly indicate the presence of child Hirschsprung disease. 

Signs of Disease in Adults, Older Infants and Children

In the case of some children, Hirschsprung disease diagnosis is not possible as they remain subtle or delayed. 
Some common symptoms in older infants and children include: 

• Chronic Constipation: These constipation do not get better with any treatment or oral laxatives. Generally, Hirschsprung Disease causes bloating in the stomach. 
• Swollen Abdomen: Unreleased stool and gases pressurise the lower abdomen to swell up. 
• Malnutrition: Due to irregularity in bowel passing, the infant, adult or child does not intake nutritious food. It ultimately leads to a lower body mass index (BMI). This plays as one of the key Hirschsprung disease pathophysiologies to be checked in adults or children. 

Additionally, the Hirschsprung disease also leads to enterocolitis and diarrhoea, which causes further pain and fever in some cases. This condition, when persisted, further reduces a child's or an adult's appetite. Hirschsprung disease-associated syndromes can extend further towards malnourishment and delayed growth due to lack of nutrients. 

Causes of Hirschsprung Disease 

Hirschsprung Disease causes bloating to occur due to genetic mutations in the person. Mostly, RET, EDNRB, and EDN3 genes are targeted to explain the cause of the Disease. 

The genetic causes of the Hirschsprung’s disease symptoms are as mentioned below:

• When the patient faces a mutation in the RET gene, which is usually responsible for the development of nerves, including nerves of the intestine. When the patient loses these gene products (proteins) due to their mutation, it is one of the causes of Hirschsprung disease in adults. 
• Besides, in case of EDN3 gene, it helps in the signalling and formation of the enteric nerves. EDN3 encodes the protein Endothelin, which, along with Endothelin Receptor Type B, helps in formation of the enteric nerves. The EDNRB gene is responsible for Endothelin Receptor B. 

In both cases, aetiology of Hirschsprung disease, the development of the enteric nerve cells in the large intestine is affected. As a result, nerves that are usually expected do not form and cause misalignment in adults or children. 

Lack of enteric nerves prevents stool from being moved through the intestine, leading to blockage and constipation. This is a prominent cause of child Hirschsprung Disease.  

Types of Hirschsprung Disease

Generally, there are four different types of Hirschsprung disease, they are: 

• The short-segmented disease affects the part of the rectum and sigmoid colon. 
• A long-segmented Disease affects the large intestine entirely.
• Total Colonic Aganglionosis affects the entire colon.
• Total Intestinal Aganglionosis affecting small and large intestines. 

Please note that these four different types of Hirschsprung disorder may occur independently or alongside conditions like Down syndrome or Waardenburg syndrome. 

Diagnosis of Hirschsprung Disorder

To diagnose Hirschsprung's Disease, a careful evaluation of patients must be done. This is because other eating habits can also cause abdominal blockages; hence, segregating the cause becomes important. Some ways by which a doctor conducts Hirschsprung disease diagnosis are as follows:

1. Abdominal X-Ray

When a trained physician checks the abdominal Hirschsprung disease radiology (or X-ray) of the patients, they might find an obstruction in their stomach. However, this is not going to be a specific sign that indicates targeted disease. 

2. Contrast Enema

An enema solution, which is a contrast, helps in understanding the features of the colon. A contrast enema provides one of the most accurate results for determining if a child is going through Hirschsprung disorder. It helps to find out the causes of Hirschsprung disease, which is mostly obstruction due to unpassed stool. 

3. Rectal Biopsy 

This is a definitive diagnosis that an expert doctor performs or advice along with the tests above. A trained practitioner inserts a biopsy pick, collects a few cells from a patient's rectum, and views it under a microscope. After understanding the Hirschsprung disease pathophysiology, this is a common way taken by other doctors. 

A rectal biopsy involves taking two samples, each about 3mm thick, including both the mucosa and submucosa layers, which are then examined for the absence of ganglion cells.. Staining it with Hematoxylin and Eosin (H&E) stain helps identify the disorder. This is one of the other most effective methods apart from Hirschsprung disease radiology. 

In the case of an infant or child with Hirschsprung disease, a team of doctors is needed to perform a suction rectal biopsy to avoid causing pain. 

• Anal Manometry 
  This procedure helps in measuring the anal pressure and reflexes of the anus. Low pressure and movement after trying to stimulate a patient defines a lack of nerve-muscle coordination and, hence, a low pressure. As already mentioned, low bowel movement is one of the classic Hirschsprung disease symptoms. 

• Immunochemistry Studies
  In the immunological assays, a protein antibody (antigen-specific) is targeted on the foreign or native antigen. In the case of a normal intestine, calretinin expression is positively associated with the presence of nerve tissues or Ganglion cells (GC) in the intestine.

Thus, an anti-calretinin antibody helps in binding with calretinin in case of the presence of the GC, indicating a positive test.

Treatment or Management of the Disease

Hirschsprung’s Disease Treatments: 

For most of the patients who face Hirschsprung disorder, the treatment and management involve invasive procedures. Surgery is an important way to deal with the disease. Some of the surgical methods are: 

• Pull-Through Surgery Hirschsprung disease 
  The procedure involves stripping away the lining of the colon. The normal section of the colon is then pulled from one side, and it is attached to the anus. This usually involves minimally invasive or laparoscopic methods through the anus. 
• Ostomy Surgery Hirschsprung disease 
  This surgery is done for children who are severely ill and showing signs of Hirschsprung disorder. An abnormal portion of the colon is removed, and the top healthy portion of the colon is connected through an opening a surgeon creates.

Hirschsprung Disease Management:

 
After the Hirschsprung's disease treatment, the management of the disease must be done by discussing it with a professional. Usually, in the case of adults or children, you can try the following, taking the advice of an expert: 

• Serve High-Fiber Foods
  In the case of infants, always consult a doctor to seek specialised Hirschsprung’s disease treatment, which helps limit constipation. 
• Increase Fluid Consumption
  Encourage drinking more water as a person who has undergone a laparoscopic procedure might be incapable of absorbing fluid. 
• Use Laxatives (As per Clinical Recommendation)
  This is an important Hirschsprung’s Disease treatment after doctors' recommendation for pre-operative adults and children. 

Final Words

Hirschsprung Disease is one of the developmental defects that a child faces, which affects their bowel movement. To treat and manage your child from this Disease, it is essential to contact a doctor and ask for their recommendations. 

If your doctor suggests a laparoscopic or full-fledged surgery, kindly ask them about its consequences. However, for medicinal procedures, only antibiotics and mast cell stabilisers may be recommended by a physician. However, please note that they are post-operative medications to avoid infections. 

Do not self-treat, as implications of such might be risky.