What is Hirschsprung Disease?

Hirschsprung's disease is a congenital condition that affects the large intestine (colon) and disrupts normal bowel function. In individuals with this condition, nerve cells are missing in certain parts of the colon, leading to difficulties in passing stool. This absence of nerve cells prevents the affected portion of the colon from effectively propelling the chair forward. As a result, the seat can become trapped, causing symptoms like constipation, abdominal distention, and other digestive problems. Hirschsprung's disease is typically present from birth and requires medical attention and treatment to manage its effects on bowel movements and overall health.

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Types of Hirschsprung's:-

Short-Segment Hirschsprung's Disease : In this type, the absence of nerve cells is limited to a relatively short portion of the colon, usually near the rectum or sigmoid colon. This is the most common type and often has milder symptoms.

Long-Segment Hirschsprung's Disease : This type involves a more extended portion of the colon lacking nerve cells. The affected segment may extend higher into the colon, leading to more pronounced symptoms and potentially more complex surgical treatment.

Total Colonic Aganglionosis : The entire colon lacks nerve cells in this rare and severe type. This can lead to significant digestive challenges and requires specialized medical care and treatment.

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Hirschsprung's symptoms

In Newborns and Infants:

Delayed Passage of Meconium : Failure to pass meconium (the first stool) within the first 48 hours after birth.

Bowel Obstruction : Severe constipation leading to a distended abdomen, vomiting, and discomfort.

Poor Feeding and Weight Gain : Difficulty feeding and inadequate weight gain.

Children and Older Individuals:

Chronic Constipation : Persistent difficulty passing stool, often requiring excessive straining.

Abdominal Distention : Swelling or bloating of the abdomen due to trapped stool.

Foul-Smelling Stool : Stool with a powerful odour.

Frequent Infections : Recurrent gastrointestinal infections, mainly if enterocolitis (intestinal inflammation) develops.

Growth and Development Issues : Delayed growth and development due to nutrient absorption problems.

Enterocolitis:

Fever : High body temperature often accompanied by chills.

Diarrhoea : Frequent, watery stools.

Abdominal Pain : Severe abdominal discomfort or pain.

Vomiting : Repeated episodes of vomiting.

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When to see a doctor?

Suppose you or a loved one are experiencing unexplained fatigue or persistent tiredness, or have noticed symptoms such as chronic constipation, abdominal distention, foul-smelling stool, or have received a low haemoglobin count during a blood test. In that case, scheduling a doctor's appointment promptly is crucial. These symptoms could indicate Hirschsprung's disease, which affects the large intestine's nerve cells.

Early detection and diagnosis of Hirschsprung's disease are vital for effective management and to prevent complications. Consulting a healthcare professional will allow proper evaluation, diagnostic tests, and appropriate treatment planning. Don't delay seeking medical attention if you observe any of these symptoms or have concerns about your health. Your doctor can provide accurate assessment and guidance for the best possible care.

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Causes of Hirschsprung's

Genetic Factors : In some cases, genetic mutations or abnormalities are associated with Hirschsprung's disease. A family history of the condition can increase the risk.

Developmental Factors : During early fetal development, the migration of nerve cells along the intestine may be disrupted, leading to the absence of ganglion cells in certain areas.

Other Genetic Syndromes : Hirschsprung's disease can sometimes occur as a part of specific genetic syndromes, such as Down syndrome.

Environmental Factors : While less understood, some environmental factors during pregnancy may contribute to Hirschsprung's disease development.

It's important to note that Hirschsprung's disease is not caused by anything the parents did or did not do during pregnancy. A complex interplay of genetic and developmental factors leads to the condition. Early diagnosis and appropriate medical management are essential to effectively addressing the challenges Hirschsprung's disease poses.

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Hirschsprung's Risk factors

Family History : Having a close family member, such as a parent or sibling, with Hirschsprung's disease increases the risk for other family members.

Genetic Factors : Certain gene mutations or abnormalities have been linked to Hirschsprung's disease. It may be more common in families with a history of genetic conditions.

Gender : Males are more frequently affected by Hirschsprung's disease than females.

Other Birth Defects : Hirschsprung's disease can be associated with other congenital conditions, such as Down syndrome or other genetic syndromes.

Ethnicity : Some studies suggest a higher prevalence of Hirschsprung's disease in individuals of Asian, Native American, and Hispanic descent.

Premature Birth : Babies born prematurely may have a slightly higher risk of developing Hirschsprung's disease.

Maternal Smoking : Some research suggests that maternal smoking during pregnancy might increase the risk of Hirschsprung's disease.

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Complications

Enterocolitis : This is a severe and potentially life-threatening complication. It involves inflammation and infection of the intestine, often triggered by the buildup of stool in the colon. Symptoms may include fever, diarrhoea, abdominal pain, and vomiting.

Bowel Obstruction : The absence of nerve cells can cause a functional obstruction, leading to a blockage in the intestine. This can result in severe constipation, abdominal distention, and discomfort.

Malnutrition and Growth Issues : Children with Hirschsprung's disease may have difficulty absorbing nutrients from food, leading to poor growth, weight loss, and nutritional deficiencies.

Chronic Constipation : The lack of nerve cells prevents proper peristalsis (intestinal muscle contractions), resulting in chronic constipation that can be difficult to manage.

Faecal Impaction : Stool accumulation and constipation can lead to a large, hardened mass of stool that becomes impacted in the colon.

Enteric Nervous System Dysfunction : Hirschsprung's disease can affect the enteric nervous system, which controls digestion and other functions of the gastrointestinal tract.

Gastrointestinal Symptoms : Individuals may experience abdominal pain, bloating, and discomfort due to abnormal bowel function.

Psychosocial Challenges : Managing the symptoms and treatment of Hirschsprung's disease can have a psychological impact, leading to stress, anxiety, and emotional difficulties.

Recurrent Infections : Due to impaired bowel function and enterocolitis episodes, individuals with Hirschsprung's disease may be more prone to infections.

Sepsis : In severe cases, untreated enterocolitis can progress to sepsis, a life-threatening condition characterized by a systemic inflammatory response.

Long-Term Bowel Dysfunction : Even after surgical correction, some individuals may experience ongoing bowel dysfunction, requiring continued medical management.

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Diagnosis Hirschsprung's disease:

Medical History and Physical Examination:

The healthcare provider will ask about symptoms, birth history, family history, and previous medical conditions.

A physical examination may include palpation of the abdomen to assess for distention and stool masses.

Imaging Studies :

Abdominal X-rays may reveal signs of bowel obstruction, stool buildup, or abdominal distention.

Contrast Enema: A special liquid (contrast) is inserted into the rectum and colon, followed by X-rays. This can help visualize the affected area and any narrowing or blockages.

Rectal Suction Biopsy :

A small piece of tissue is taken from the rectum to examine the nerve cells under a microscope. The absence of nerve cells (ganglion cells) in the biopsy sample is a crucial diagnostic finding.

Anorectal Manometry :

This test measures the pressure and muscle coordination in the rectum and anus. It helps evaluate the nerve function in the lower gastrointestinal tract.

Barium Swallow or Upper Gastrointestinal Series :

They were sometimes used to rule out the involvement of the upper digestive tract.

Genetic Testing:

Genetic testing may be considered, primarily if a family history of Hirschsprung's disease or associated genetic syndromes exists.

Other Tests :

Blood tests assess electrolyte levels, blood count, and overall health.

Assessments of growth and development, especially in children.

Diagnosing Hirschsprung's disease requires a comprehensive approach, and multiple tests may be conducted to confirm the diagnosis. A team of medical professionals, including pediatric surgeons, gastroenterologists, and other specialists, will collaborate to determine the most appropriate diagnostic steps. If Hirschsprung's disease is confirmed, the healthcare team will develop a treatment plan tailored to the individual's needs.

Generally, normal haemoglobin levels for adults vary but are typically around:

Men: 13.8 to 17.2 grams per deciliter (g/dL),

Women: 12.1 to 15.1 g/dL.

The reference ranges are usually different for children due to age and developmental factors.

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Treatment for Hirschsprung's disease:

Surgery:

The primary treatment for Hirschsprung's disease is surgery. The goal is to remove the affected portion of the colon (often the rectum and a part of the sigmoid colon) that lacks nerve cells (ganglion cells).

The surgical procedure is called a "pull-through" or "resection" operation. It involves removing the colon's abnormal segment and connecting the colon's healthy part to the anus.

Different surgical techniques, including the Swenson, Duhamel, and Soave, each with its approach to removing the affected segment and creating a new connection.

Staged Surgery (Rare Cases):

In some complex cases, mainly when a large portion of the colon is affected, the surgery may be performed in stages to minimize risks and complications.

Colostomy (Temporary or Permanent):

Sometimes, a temporary colostomy (an opening in the abdominal wall to divert stool) may be created before the pull-through surgery. This allows the lower part of the colon to rest and heal. The colostomy may be reversed once healing is complete.

In rare cases, a permanent colostomy may be necessary if the affected segment is extensive and removal is not feasible.

Follow-up Care:

After surgery, regular follow-up appointments are essential to monitor the healing process and ensure proper bowel function.

Nutritional support and dietary guidance may be provided to address any nutritional deficiencies.

Long-Term Management:

Individuals undergoing surgery for Hirschsprung's disease may need ongoing management strategies to optimize bowel function and prevent constipation.

The surgical treatment of Hirschsprung's disease aims to alleviate symptoms, improve bowel function, and enhance the individual's quality of life. To ensure appropriate pre-operative preparation, surgical intervention, and post-operative care, working closely with a multidisciplinary healthcare team, including pediatric surgeons, gastroenterologists, and nurses, is essential. Early diagnosis and timely surgical treatment can significantly improve outcomes for individuals with Hirschsprung's disease.

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Hirschsprung's Dos and Don’ts

Hirschsprung's Care at Medicover Hospitals

Medicover has a dedicated team of specialized pediatric surgeons, gastroenterologists, and healthcare professionals experienced in treating Hirschsprung's disease and its associated challenges. Our experts conduct comprehensive diagnostic assessments to accurately diagnose Hirschsprung's disease, utilizing a range of advanced tests and imaging techniques. Based on the diagnostic findings, our medical team develops a tailored treatment plan designed to address the unique needs of each individual.

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