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December 10, 2024
Hirschsprung’s Disease is a rare congenital condition affecting the large intestine, where nerve cells are missing in parts of the colon. This causes difficulties in passing stool, leading to chronic constipation or intestinal blockages. Although primarily diagnosed in newborns and young children, Hirschsprung’s disease in older children and adults is also possible, albeit less common.
Let’s take a detailed look at Hirschsprung’s disease and the various aspects associated with it.
Hirschsprung’s Disease is a congenital disorder caused by the absence of ganglion cells (nerve cells) in the bowel. These cells are crucial for coordinating the muscles that propel stool through the intestines. The absence of these cells leads to a lack of peristalsis in affected segments, causing a blockage.
The symptoms of Hirschsprung’s disease can vary depending on the age of the patient and the extent of the affected colon.
Diagnosing Hirschsprung’s disease requires a thorough evaluation by medical professionals to confirm the absence of nerve cells (ganglion cells) in specific sections of the colon. The process involves several steps, combining clinical examination with specialised tests to ensure an accurate diagnosis.
Doctors begin by reviewing the patient’s medical history, including symptoms like chronic constipation, delayed meconium passage, or abdominal bloating. The abdomen is examined for distension, and the rectum is checked for stool blockage. A “rectal explosion” of gas and stool after a digital rectal exam may indicate the condition.
A contrast enema is a diagnostic imaging test that involves injecting a contrast material into the rectum to outline the large intestine on X-rays. It helps identify the narrowed (ganglionic) segment of the colon and the dilated portion above it, providing a clear visual clue for Hirschsprung’s disease.
This test measures the pressure in the rectum to evaluate nerve and muscle function. It involves inflating a small balloon in the rectum. In Hirschsprung’s disease, the normal reflex relaxation of the rectum in response to balloon inflation is absent, indicating a lack of nerve cells.
Rectal biopsy is crucial for diagnosing Hirschsprung’s disease by checking for the absence of ganglion cells in a tissue sample. Types of biopsies include Suction Biopsy for infants and Full-Thickness Biopsy if Suction Biopsy results are inconclusive.
Genetic testing may be recommended, especially in cases with a family history of Hirschsprung’s disease or associated genetic syndromes, such as Down syndrome.
In complex cases, other imaging studies like abdominal X-rays, CT scans, or ultrasounds may be used to evaluate the extent of intestinal blockage or complications like enterocolitis.
The goal of treating Hirschsprung’s disease is to restore normal bowel function by addressing the lack of nerve cells in the intestine. Surgery is the main treatment, but non-surgical methods can help manage symptoms in some cases.
Surgery is the cornerstone of Hirschsprung’s Disease treatment. It involves removing the affected section of the colon (where ganglion cells are absent) and connecting the healthy part to the rectum or anus. There are several surgical options:
Although surgery is the definitive treatment, non-surgical methods play an important role in managing symptoms, especially when surgery is not immediately possible or in cases of mild disease.
In rare instances, patients with very mild forms of Hirschsprung’s Disease or those unfit for surgery may rely on lifelong symptom management through bowel programs, dietary adjustments, and physical therapy. However, this approach is not curative and poses risks of long-term complications, such as chronic constipation, enterocolitis, and bowel obstruction.
Non-surgical management is more common as a temporary solution until the patient is ready for surgery.
Some post-surgery issues may include constipation, incontinence, and enterocolitis, which require different treatments like diet changes, therapy, and prompt medical attention. Regular follow-ups with a healthcare provider are important for monitoring recovery and addressing complications.
Patients and families can benefit from nutritional counselling, psychological support, and support groups to address physical, emotional, and social challenges.
Hirschsprung’s Disease is primarily recognised as a congenital condition diagnosed in infancy. However, it can also present in older children and adults, often due to delayed diagnosis or atypical symptoms that evade early detection. While rare, cases in these age groups require tailored approaches for diagnosis, management, and treatment. Let’s understand the unique challenges and considerations for Hirschsprung’s Disease in older children and adults.
Hirschsprung’s Disease in older children and adults arises when the congenital absence of ganglion cells in the colon goes undiagnosed for years. Over time, the absence of normal bowel function leads to chronic symptoms, complications, and secondary conditions.
In older populations, symptoms of colon issues may be milder and persist for years, often mistaken for other gastrointestinal disorders such as chronic constipation or IBS. The affected colon segment may be shorter, leading to less noticeable symptoms. Delayed treatment can result in complications like megacolon and enterocolitis.
HAEC is a dangerous complication of Hirschsprung’s disease where the colon becomes inflamed and infected due to stool buildup and bacterial overgrowth. Early detection and treatment are crucial to avoid serious outcomes.
Enterocolitis is a medical emergency. Prompt treatment in a hospital setting is essential to stabilise the patient and prevent complications like sepsis or bowel perforation.
Flushing the colon with a saline solution helps to remove stool and trapped gas, relieving pressure and reducing bacterial load. This is a cornerstone of immediate management.
Intravenous (IV) fluids are administered to address dehydration and restore electrolyte balance.
Broad-spectrum antibiotics are given to treat or prevent infection caused by bacterial overgrowth in the colon. Common options include metronidazole and ampicillin.
Close monitoring of vital signs, hydration status, and laboratory markers is critical. Nutritional support, such as IV feeding, may be necessary until the condition stabilizes.
If enterocolitis develops before surgery to treat Hirschsprung’s disease, the definitive surgical procedure may be delayed until the inflammation subsides. In severe cases, emergency surgery may be required to relieve obstruction or address complications like bowel perforation.
After treatment and recovery, one of the most important things to keep in mind is to prevent its recurrence. Here are some of the things you can do to prevent recurrence.
Go for regular follow-ups to monitor bowel function and detect any signs of obstruction or infection early. Continued use of rectal irrigations during the recovery period as advised by the healthcare provider.
Seek early intervention for constipation to prevent stool buildup, which increases the risk of bacterial overgrowth. Parents and caregivers need to be educated on recognising the early signs of enterocolitis and knowing when to seek medical attention.
Follow a high-fibre diet and adequate fluid intake can help maintain regular bowel movements and reduce stool retention.
Now let’s look at some complication of Hirschsprung’s disease. Understanding these complications is crucial for timely diagnosis, treatment, and prevention of long-term effects.
Enterocolitis is the most serious and potentially life-threatening complication of Hirschsprung’s Disease. It involves inflammation and infection of the colon, often triggered by bacterial overgrowth in the stagnant stool.
Bowel obstruction occurs when stool cannot pass through the intestine due to the absence of nerve cells and lack of peristalsis in the affected bowel segment.
Megacolon is an abnormal dilation of the colon due to prolonged stool retention and increased pressure. It is common in untreated or severe cases of Hirschsprung’s Disease.
Intestinal perforation is a rare but critical complication. It occurs when increased pressure in the bowel leads to a rupture, allowing stool and bacteria to leak into the abdominal cavity.
Post-surgical strictures can form in the area where the bowel was reconnected, causing partial obstruction.
Living with Hirschsprung’s Disease often requires lifestyle adjustments to manage symptoms and promote overall well-being.
Life expectancy for individuals with Hirschsprung Disease largely depends on timely diagnosis and effective management. With proper surgical treatment, many individuals lead healthy lives, although they may need ongoing management for bowel function.
Factors affecting the prognosis include the length of the affected bowel segment, the presence of other congenital anomalies, and the overall health of the patient. Regular follow-up care is essential to monitor and address any long-term complications.
Hirschsprung’s Disease is a complex condition that can significantly impact the quality of life if left untreated. Whether you’re a patient, caregiver, or healthcare professional, staying informed about Hirschsprung’s Disease ensures timely interventions and a better quality of life.
If you suspect symptoms in yourself or a loved one, consult a medical professional promptly to explore your options.
Hirschsprung’s disease does not go away, but it can be managed effectively with surgery and ongoing care.
Hirschsprung’s disease stool is often characterised by being hard, pellet-like, or ribbon-shaped due to bowel obstruction or poor motility.
With early diagnosis and proper treatment, individuals with Hirschsprung’s disease can have a normal life expectancy.
The main cause of Hirschsprung’s disease is a genetic mutation that leads to the absence of nerve cells (ganglion cells) in a portion of the colon.
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