Deciphering Hirschsprung's Disease: Understanding Symptoms, Diagnosis, and Treatment Approaches

Introduction

Hirschsprung's disease is a rare congenital (by birth) disorder that affects the large intestine since birth, and can have a significant impact on the lives of those affected. If you or a loved one are suffering from this disease, it is important to understand its symptoms and the treatment options available to you. If you would like to learn more, keep reading.

What Is Hirschsprung's Disease?

Hirschsprung's disease  is a condition in which nerve cells are absent in the intestinal wall or large intestine. This absence disrupted bowel movements and causes constipation or blockage from birth.

How Common Is Hirschsprung's Disease?

Hirschsprung's disease is quite rare. It affects approximately 1 in 5,000 newborns. This disease boys are affected more as compared to girls.

What Are The Types Of Hirschsprung's Disease?

There are 3 main types of Hirschsprung disease:

Short-Segment Hirschsprungs Disease:

• Involves a relatively small portion of the large intestine.
• Usually affects the lower part of the colon and rectum.

Long-Segment Hirschsprungs Disease:

• Affects a larger portion or even the entire length of the colon.
• The absence of nerve cells extends further along the intestine.

Total Colonic Aganglionosis:

• One of the most severe types of Hirschsprung disease
• Nerve cells are absent throughout the entire colon.

What Causes Hirschsprung's Disease?

Here's a breakdown of the cause of Hirschsprung disease:

• You may inherit specific genetic mutations that affect the development of the intestinal neurons. These mutations disrupts the ability of nerve cells to migrate properly during fetal development.
• During fetal development, nerve cells fail to form a part of the section of the large intestine due to mutation. The absence of such nerve cells, called ganglion cells, is a direct cause of Hirschsprung disease, which prevents the affected part of the intestine from relaxing and functioning normally.
• Certain genetic syndromes, such as Down syndrome, may increase the risk of developing Hirschsprung's disease. Having a family history of Hirschsprung's disease also increases the likelihood of the disease.
• In some cases, there can be clear genetic or familial association and Hirschsprung's disease may occur spontaneously during fetal development.

What Are The Symptoms Of Hirschsprung Disease?

Common Hirschsprung's disease symptoms include:

• Chronic constipation is one of the Hirschsprung's disease symptoms and usually appears immediately after birth. Your baby may face difficulty a difficulty in passing stool, resulting in infrequent bowel movements or difficulties or hard and difficult stools.
• Your baby's abdomen may appear swollen or bloating due to the accumulation of stool in the intestines.
• Meconium is a baby's first stool, which passes usually within 48 hours of birth. In Hirschsprung's disease, your baby may not be able to pass meconium during this time.
• Severe constipation can cause vomiting, especially if the intestines are blocked.
• The discomfort caused by this condition may cause your child to show signs of poor feeding.

How Is Hirschsprung's Disease Diagnosed?

Hirschsprung's disease diagnosis typically involves the following:

• Your healthcare provider will review your child's medical history, including symptoms like chronic constipation or abdominal distension. A thorough physical examination will be conducted to assess your child's abdomen and overall health.
• A rectal exam may be performed to check for the presence of stool in the rectum. In Hirschsprung disease, the absence of stool during this exam may indicate a potential diagnosis.
• Hirschsprung disease X-rays or contrast enemas may be ordered to visualize the intestines and identify any areas of blockage or abnormal narrowing.
• A definitive diagnosis of Hirschsprung disease is often made through a rectal biopsy.
• During this procedure, a small tissue sample is taken from the rectum and examined under a microscope to look for the absence of ganglion cells.
• Anorectal Manometry helps measures the pressure and muscle function in the rectum and anus. It helps assess the ability of the rectum to relax and evacuate stool, which can be impaired in Hirschsprungs disease.
• In some cases, genetic testing may be recommended, especially if there's a family history of the condition or suspicion of a genetic syndrome associated with Hirschsprung disease.

How Is Hirschsprung Disease Treated?

There are several Hirschsprung's disease treatment methods available based on the severity of the condition.

Here’s how Hirschsprung's disease treatment is carried out:

Surgery:

• The main treatment for Hirschsprungs disease is surgery to remove the portion of the colon lacking nerve cells.
• This procedure called a pull-through or resection, involves removing the affected part of the colon and connecting the healthy portion to the anus.

Temporary Ostomy:

• In some cases, particularly if your child is very ill or premature, a temporary ostomy may be created.
• This involves bringing part of the healthy colon through the abdominal wall to create an opening (stoma) for stool to pass into a colostomy bag.

Staged Surgery:

• For certain cases, particularly those with long-segment or total colonic aganglionosis, surgery may need to be done in stages.
• This approach allows for the gradual removal of the affected colon while minimizing complications.

What Are The Complications Of Hirschsprung Disease?

Here are the potential complications of Hirschsprungs disease:

• Enterocolitis, which is a severe inflammation of the colon. Itcan be life-threatening if left untreated.
• Severe abdominal pain and discomfort.
• Difficulty in weight gain

What Is The Outlook For People Who Have Hirschsprung Disease?

Post-surgery, some infants with Hirschsprungs disease may experience constipation and colon infections. However, with ongoing care, many can effectively manage bowel movements and avoid severe complications associated with Hirschsprungs disease. 

When To See A Doctor?

If you notice persistent constipation, abdominal swelling, or failure to pass stool in your baby, it's essential to see a doctor promptly. Early detection and intervention for symptoms like these can lead to timely diagnosis and effective management of Hirschsprungs disease.

Conclusion

In a nutshell , understanding Hirschsprungs disease is vital for recognizing its symptoms, seeking early diagnosis, and exploring appropriate treatment options. With advancements in medical care, individuals affected by Hirschsprungs disease can lead fulfilling lives and managing their health effectively in the long-term. To avoid disorders like this and maintain a healthy life, you need to get yourself regularly tested for early diagnosis. Which is why Metropolis Healthcare brings to you a range of full-body check-up packages so that you do not have to worry about your health. Book a test today!