Hirschsprung Disease: Causes and Treatments

Hirschsprung disease is a birth defect that involves missing nerve cells in the muscles of part or all of the large intestine. This absence of nerve cells, known as ganglion cells, leads to severe constipation or intestinal obstruction.

In a healthy colon, nerve cells stimulate muscle contractions (peristalsis) that move stool through the intestine. In individuals with Hirschsprung disease, the lack of ganglion cells inhibits these contractions, causing stool to remain in the colon and leading to a blockage.

Causes of Hirschsprung Disease

Genetic Factors

The primary cause of Hirschsprung disease is genetic mutations. The RET gene is most commonly implicated, but other genes such as EDNRB, EDN3, GDNF, and SOX10 can also be involved. These genetic mutations disrupt the development of nerve cells in the intestine during fetal growth.

Hereditary Patterns

Hirschsprung disease often follows an autosomal dominant or autosomal recessive inheritance pattern. This means that a parent with the mutated gene can pass it on to their offspring. However, the disease can also occur sporadically without a family history.

Associated Conditions

Hirschsprung disease is sometimes associated with other genetic disorders, such as Down syndrome and Waardenburg syndrome. Approximately 12% of individuals with Hirschsprung disease also have Down syndrome.

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Symptoms of Hirschsprung Disease

In Newborns

Failure to pass meconium: The first stool passed by a newborn, usually within 48 hours after birth.
Constipation: Persistent and severe.
Abdominal distension: Swelling of the abdomen.
Vomiting: Often bile-stained.

In Older Children

Chronic constipation: Ongoing difficulty in passing stools.
Ribbon-like stools: Thin, narrow stools.
Growth retardation: Poor weight gain and growth.
Enterocolitis: Inflammation of the small intestine and colon, which can be life-threatening.

Diagnosing Hirschsprung Disease

Clinical Examination

A thorough clinical examination is the first step in diagnosing Hirschsprung disease. The physician will take a detailed medical history and perform a physical examination, focusing on the abdomen.

Barium Enema

A barium enema is an X-ray exam of the colon and rectum. During the procedure, a liquid containing barium is inserted into the rectum, which helps visualize the colon on an X-ray. The images can show a narrowed segment of the colon, indicative of Hirschsprung disease.

Rectal Biopsy

A rectal biopsy is the gold standard for diagnosing Hirschsprung disease. During this procedure, a small sample of tissue is taken from the rectum and examined under a microscope to check for the absence of ganglion cells.

Anorectal Manometry

This test measures the response of the muscles around the rectum to pressure. A balloon is inflated inside the rectum, and the pressure response is measured. Lack of relaxation in the internal anal sphincter suggests Hirschsprung disease.

Treatment Options for Hirschsprung Disease

Surgical Intervention

The primary treatment for Hirschsprung disease is pull-through surgery. The surgeon removes the diseased segment of the colon and connects the healthy part to the rectum. This procedure is usually performed in infancy or early childhood.

Swenson Procedure: The original pull-through operation, which involves removing the affected bowel and connecting the healthy bowel directly to the anus.
Duhamel Procedure: Combines the healthy bowel with a segment of the normal bowel, bypassing the aganglionic segment.
Soave Procedure: Removes the mucosal lining of the affected bowel and pulls the healthy bowel through the muscular cuff of the rectum.

Postoperative Care

Postoperative care is crucial for recovery. It involves:

Pain Management: Pain relief through medications.
Nutritional Support: Proper diet to ensure adequate nutrition and bowel function.
Monitoring for Complications: Such as enterocolitis or bowel obstruction.

Long-term Follow-up

Long-term follow-up is essential for children who have undergone surgery for Hirschsprung disease. Regular check-ups with a pediatric gastroenterologist help monitor bowel function, growth, and development.

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Management of Complications

Enterocolitis

Enterocolitis is a severe and potentially life-threatening complication of Hirschsprung disease. It involves inflammation and infection of the intestines and requires immediate medical attention. Treatment includes antibiotics, fluid resuscitation, and sometimes surgical intervention.

Constipation and Incontinence

Some children may experience ongoing constipation or fecal incontinence after surgery. Management strategies include:

Dietary Changes: High-fiber diet to promote bowel movements.
Medications: Laxatives or stool softeners.
Bowel Management Programs: Scheduled toilet training and enemas.

Advances in Treatment and Research

Stem Cell Therapy

Research is ongoing into the use of stem cell therapy to treat Hirschsprung disease. Scientists are exploring ways to generate new nerve cells that can be implanted into the affected bowel to restore normal function.

Gene Therapy

Gene therapy holds promise for correcting the genetic mutations responsible for Hirschsprung disease. By targeting and repairing the defective genes, this treatment could potentially prevent or cure the disease.

Minimally Invasive Surgery

Advances in minimally invasive surgical techniques offer less pain, shorter hospital stays, and quicker recovery times for patients with Hirschsprung disease. Laparoscopic and robotic-assisted surgeries are becoming more common and effective.

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