Medicines for Hirschsprung's disease

What it is

Hirschsprung's disease is a condition, present from birth, in which the nerve cells that control the muscles of part of the bowel (large intestine) are missing. These nerve cells (ganglion cells) normally coordinate the muscle contractions that move stool (poo) along the bowel; where they are missing (usually in the last part of the bowel, though the affected length varies), that part of the bowel cannot relax and push stool through properly, so stool builds up behind it, causing a blockage and severe constipation. It is present from birth (the nerve cells fail to develop before birth), and is usually diagnosed in the newborn period or early infancy, though milder cases are occasionally diagnosed later. In newborn babies, Hirschsprung's disease often shows itself soon after birth — for example, the baby not passing their first stool (meconium) within the expected time (usually within the first day or two of life), a swollen (distended) tummy, vomiting (sometimes green), and difficulty feeding or being unwell. In babies and children diagnosed a little later, it can cause severe, persistent constipation from early life, a swollen tummy, and poor growth. An important and potentially serious complication is a bowel infection and inflammation (enterocolitis), which can make the baby very unwell and needs urgent treatment. Hirschsprung's disease needs medical treatment, and the main treatment is surgery to remove the affected section of bowel (the part without nerve cells) and join the healthy bowel to the back passage, so that stool can pass normally. With treatment, most children do well, though some may have ongoing bowel issues that are managed over time. The key messages are that Hirschsprung's disease is a condition present from birth where nerve cells are missing from part of the bowel, causing severe constipation and blockage (usually in newborns or infants), and that it is treated with surgery, usually with good outcomes.

How it is treated

Hirschsprung's disease is diagnosed and treated by specialist teams (paediatric surgeons and gastroenterologists), with the main treatment being surgery to remove the affected section of bowel; most children do well with treatment. If Hirschsprung's disease is suspected — for example a newborn baby not passing meconium (the first stool) in the expected time, with a swollen tummy, vomiting, and difficulty feeding, or a baby or child with severe, persistent constipation from early life and a swollen tummy — assessment is arranged, and severe symptoms or a very unwell baby need urgent attention. Diagnosis involves examination and tests, which may include imaging, and, importantly, a biopsy of the bowel lining (taking a small sample to check for the missing nerve cells), which confirms the diagnosis. Initial management may include measures to relieve the blockage and clear the bowel (such as washouts) and to treat or prevent the serious complication of bowel infection and inflammation (enterocolitis), which is treated urgently if it occurs. The main, definitive treatment is surgery: an operation to remove the section of bowel that lacks nerve cells and to join the healthy bowel (which has normal nerve cells) to the anus, so that stool can pass normally — this is often done as a single operation, though in some situations a temporary stoma (bringing the bowel to an opening on the tummy) is created first, with the main surgery later. The specific approach depends on the individual and the extent of bowel affected. After surgery, most children are able to pass stool normally and do well, though some children have ongoing bowel issues — such as constipation, some difficulty with bowel control, or episodes of enterocolitis — which are managed over time with the support of the specialist team (for example with diet, bowel management, and monitoring), and it is important to be alert to and seek help for signs of enterocolitis (a swollen tummy, fever, vomiting, diarrhoea, and being unwell) even after surgery. Support for the family, and follow-up, are part of care. The reassuring messages are that Hirschsprung's disease, although a serious condition needing surgery, is treatable — with removal of the affected bowel allowing stool to pass normally — and that most children do well with treatment, while some ongoing bowel issues are managed over time; so prompt diagnosis (for example in a newborn not passing meconium or with a swollen tummy and vomiting) and specialist surgical treatment are the keys, along with awareness of the signs of enterocolitis.