Children's surgery for a good quality of life

HUS Helsinki University Hospital has a long history of studying rare diseases in children. One of these, Hirschsprung disease, is the most common congenital bowel disorder in newborns and is life-threatening if left untreated. 

As a result of long-term research, HUS has become an internationally renowned center of excellence whose results and practical applications are already being used in several countries.

Under the leadership of Professor of Pediatrics Mikko Pakarinen, European guidelines for doctors and nurses for the management of Hirschsprung disease has been developed. A patient version of the guidelines and a patient guide describing the care pathway from newborn to adult are currently being developed. 

“Our aim is to provide both colleagues and patients with easy-to-understand information about this rare disease and its treatment. This will ensure that patients receive evidence-based and effective treatment,” says Mikko Pakarinen of HUS Children and Adolescents, who is Chair of the ERNICA network's intestinal diseases workstream.   

Pakarinen, together with pediatric specialist Kristiina Kyrklund and other leading researchers in the field, has compiled the latest information on Hirschsprung disease in the scientific journal Nature Reviews Disease Primers. The recent review article discusses the disease in a wide range of topics from pathophysiology to surgical treatment and prognosis. It also summarizes the topics that should be further explored. 

HUS is currently leading an international research project on the most severe form of Hirschsprung disease. In addition, a randomized trial on inflammatory bowel disease linked to Hirschsprung disease will begin at HUS. This research will help in the understanding of the mechanisms and heredity of other children's bowel diseases.

Demanding surgery ensures a good quality of life

Hirschsprung disease is treated with surgery. HUS has introduced a surgical procedure where the non-functioning part of the baby's bowel is removed through the anus. In extreme cases, if a lot of bowel has to be removed, it can be replaced with a transplant. The bowel takes years to recover from surgery and most children will still have symptoms in primary school, such as fecal incontinence and difficulty in defecating.

However, extensive surgery is only one part of a long treatment process involving not only surgeons but also a nutritionist, nurses and a social worker, among others. In addition to the surgical method, HUS has developed a care pathway. 

“Our research is also strongly linked to care pathway planning, and our goal is to ensure the best possible quality of life for child patients when they become adults,” says Kristiina Kyrklund from HUS Children and Adolescents.

Thanks to the comprehensive care pathway, the quality of life of the majority of patients has been found to be good in follow-up studies.

“We are now able to guarantee a good quality of life for almost all our patients, as symptoms are partially or completely eliminated. By puberty at the latest, they can lead almost normal lives. Severe problems with bowel function remain in about 10% of those who undergo surgery,” says Mikko Pakarinen.

A rare disease

In Hirschsprung disease, the nerve cells that regulate bowel movements are missing from the end of the intestine. As a result, the contents of the bowel do not progress through it and defecation is not possible. Symptoms of the disease include abdominal pain, abdominal distension, constipation, and vomiting, most often caused by intestinal obstruction. 

Preliminary diagnosis is made by angiography and final diagnosis by a biopsy of the intestine. 

The disease is rare, and on average there are ten children born with Hirschsprung disease in Finland each year, the majority of whom are boys. It is a hereditary disease, which males are four times more likely to develop. The disease may be associated with chromosomal abnormalities such as Down syndrome.