Hirschsprung's Disease - Causes, Symptoms, Treatment & Diagnosis | Max Lab

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Overview of Hirschsprung's Disease

Hirschsprung's disease is a congenital disorder in which there are no nerves in the affected region of the bowel. The most prominent symptom is severe constipation. Other symptoms may include vomiting, abdominal pain, diarrhea and slow growth. Most babies with HSCR experience symptoms after they turn 2 months old. Complications may include enterocolitis, colic, obstruction and perforation of the intestinal tract.

Types of Hirschsprung Disease?

The major types of Hirschsprung disease include:

Short-segment Hirschsprung disease is characterized by the absence of nerve cells from the rectum and sporadically from the sigmoid colon, the lowest portion of the colon.
Long-segment Hirschsprung disease, in which nerve cells are present in at least some of the colon but absent from the rectum and a longer portion of the colon than in short-segment Hirschsprung disease.
Total colonic Hirschsprung disease is characterised by the absence of nerve cells from the rectum and the entire colon, but their presence at the small intestine's end.
small intestinal Hirschsprung disease, in which nerve cells are present throughout the small intestine but absent from the rectum, colon, and end of the small intestine.
Total intestinal Hirschsprung disease, in which the rectum, colon, and all or nearly all of the small intestine are devoid of nerve cells.

Who is more likely to have Hirschsprung Disease?

Hirschsprung disease is more likely to affect

boys. Boys are around three to four times more likely than girls to have Hirschsprung disease.
kids whose parent or sibling has Hirschsprung disease.
babies and young kids. Birth is when Hirschsprung disease first manifests. Some kids experience early indications and symptoms and are diagnosed. Others, however, might experience symptoms later in infancy or early childhood and receive a diagnosis. In the first year of life, Hirschsprung disease is discovered in about half of all children. 1,5 80% of cases are identified by age 7.

Children of any race or ethnicity may get Hirschsprung disease.

Other Conditions affecting People with Hirschsprung Disease

Hirschsprung disease affects about 30% of newborns. Some of the other common conditions that plague people affected by the Hirschsprung disease include:

congenital abnormalities that impact different body components, like the heart, hands & digestive tract
Certain other chromosomal disorders and the Down syndrome

Symptoms of Hirschsprung Disease

Some newborns with Hirschsprung disease have early signs and symptoms of intestinal blockage, which include

without having a bowel movement for the first time within 48 hours of birth
green or brown vomit
Swollen belly or abdomen
issues with feeding
when a doctor pokes their finger into a newborn's rectum, they may experience explosive feces or diarrhea.

Hirschsprung disease in newborns may potentially show signs or symptoms of problems.

Symptoms in older infants, children, and adults

Hirschsprung disease may go undiagnosed and untreated in infants who do not exhibit early signs and symptoms of intestinal blockage. Typical signs in older infant and children include

Constipation that persists despite taking oral laxatives (laxatives administered orally) for treatment
swollen abdomen
malnutrition or failure to thrive, which means that a baby or child weighs less than normal for his or her age or is growing less weight
symptoms of Hirschsprung-associated enterocolitis, such as diarrhoea

Hirschsprung disease symptoms, like constipation, may resemble those of other illnesses in older infants and kids. As a result, medical professionals might not immediately suspect and diagnose Hirschsprung illness.

Hirschsprung may not always be identified and treated until adulthood. Hirschsprung disease is often diagnosed in adults who have a history of chronic constipation and abdominal swelling that doesn't improve with oral laxative use.

What causes Hirschsprung's disease?

Why the ganglion cells don't migrate all the way to the end of the rectum is a mystery to scientists. However, genetic factors might be at play, particularly if there are longer intestines involved or if there is a family member who also has the illness.

For instance, if one parent has Hirschsprung's disease, there is a higher likelihood that the child will also have the disease. (If the mother has Hirschsprung's illness, the chances are higher.) There is a 3–12% risk that another child from the same parents will also have Hirschsprung's disease if the family has one child who does.

Boys experience Hirschsprung's disease five times more often than girls do. Children who have Down syndrome are also at an increased risk.

Diagnosis and Tests of Hirschsprung's Disease

If your child exhibits these symptoms, you should call your doctor right away. They can use a few particular tests to validate Hirschsprung's:

A contrast enema: It’s also called a barium enema, after the element in the dye often used to coat and highlight the inside of the body’s organs. The dye is introduced into the intestines via a tube from the anus while your child is lying face down on a table. There is no requirement for anaesthesia (a drug to dull or stop pain). The dye makes problematic spots on the X-rays visible to the doctor. A series of gastrointestinal tract examinations known as the "lower GI series" includes the contrast enema.
An abdominal X-ray: The technician may take this conventional X-ray from several angles. Your doctor will be able to determine whether the intestines are blocked by anything.
A biopsy: A tiny sample of tissue from your child's rectum will be taken by your doctor. The tissue will be examined for Hirschsprung's disease indicators. The doctor might administer anaesthetic depending on your child's age and size
Anorectal manometry: In this examination, a little balloon is inflated inside the rectum to see if the local muscles react. On older kids only is this test administered.

Treatment of Hirschsprung's disease

The disorder known as Hirschsprung's disease is exceedingly dangerous. However, it can enable your child lead a somewhat normal life if it is discovered quickly.

Typically, doctors will do one of two kinds of surgery:

Pull-through procedure: The big intestinal section that lacks nerve cells is simply removed during this procedure. The remainder of the intestine is then directly attached to the anus.

Ostomy surgery: The intestine is guided to an opening created in the body by this procedure. In order to retain the intestine waste, the doctor next fastens an ostomy bag to the exterior of the orifice. In order to wait until the youngster is prepared for the pull-through treatment, ostomy surgery is typically a temporary solution.

Some kids may experience constipation, diarrhoea, or incontinence after surgery (lack of control over bowel movements or urination).

Enterocolitis may affect a few people. Rectal haemorrhage, fever, vomiting, and an enlarged abdomen are symptoms. Take your child right away to the hospital if that occurs.

However, with the right care, particularly a healthy diet and enough of water, these issues should improve, and most kids can resume having regular bowel movements within a year of treatment. Some kids will experience gastrointestinal problems intermittently throughout childhood and into adulthood. Hirschsprung's disease should be followed throughout one's life because it is congenital.

Risk factors of Hirschsprung's disease

Hirschsprung's disease risk factors include the following:

Having a sibling who has Hirschsprung's disease: Hirschsprung's illness is heritable. Future biological siblings may be at danger if you have one child with the illness.
Being male: The prevalence of Hirschsprung's disease is higher in men.
Having other inherited conditions: Hirschsprung's disease is connected to some genetic disorders like Down syndrome and other birth defects including congenital heart disease

Recovery from Hirschsprung's disease After Surgery

In most kids, symptoms become better or disappear following surgery. A tiny percentage of kids could struggle to control their faeces or have constipation (fecal incontinence). Children with less disease (which enables the surgeon to leave more healthy bowel in place) and those who receive treatment early typically have better outcomes.