New Delhi: The first happiness that you experience in the morning is when your rectum is smoothly emptied of stool!  It is heaven, a nirvana! Think of stool firming like concrete in there for days on end! It is a veritable hell one passes through. In a first in North India such rare intractable constipation had a smooth passage in Sir Ganga Ram hospital, thanks to novel endoscopy. 23 year boy was experiencing constant constipation torment due to a rare condition named Hirschsprung.  Interestingly, the spelling of condition itself sounds like ‘constipation’ in pronunciation.

Normally, constipation is not a common incident among children and young adults save and except in some rare conditions like Hirschsprung. 

Recent developments in the field of gastrointestinal endoscopy have opened the doors to a new world of minimally invasive, incision-less, and nonsurgical treatment for various luminal gastrointestinal diseases. With the availability of high-resolution real-time visualization of the lumen of the digestive tract, it is possible not only to diagnose but also to achieve a cure for diseases non-surgically with advanced endoscopic machines. There is a radical and paradigm shift towards endoscopic diagnosis and treatment of a host of gastrointestinal diseases, as these techniques are painless, cost-effective, and most importantly, cosmetically acceptable to patients.

Dr. Anil Arora, the head of the Department of Gastroenterology at Sir Ganga Ram Hospital, said a 23-year-old male was suffering from a rare disease known as Hirschsprung’s disease. This boy had severe constipation since childhood, with only one or two bowel movements per week despite taking many laxatives. He was diagnosed with Hirschsprung’s disease after undergoing evaluation at Sir Ganga Ram Hospital.

Dr. Shivam Khare, a consultant at the Department of Gastroenterology, Sir Ganga Ram Hospital, said Hirschsprung’s disease is a rare condition that usually manifests in early childhood with intractable constipation due to the lack of development of nerve supply to the lower part of the large intestine since birth as a part of congenital malformation. This results in the inability of muscles at the fag end of the rectum to relax, resulting in the stagnation of stool in the large intestine. Typically, the management of this disease until recently required a two-stage surgery with associated  complications.

Dr. Anil Arora said many such cases, even though congenital in nature, remain undiagnosed for long periods as diagnosis is quite difficult due to the failure of conventional tests to diagnose it correctly. Thanks to the availability of High-Resolution Anorectal Manometry and Contrast study of the rectum, such diseases can be quickly and confidently diagnosed.

According to Dr. Shivam Khare, PREM (Per-rectal endoscopic myotomy) is an incision-less, painless, and scar-less endoscopic procedure. The PREM procedure consists of four steps: mucosal entry (cutting the internal lining of the rectum) (Figure 1), creation of a submucosal tunnel (tunnel between the muscle layers and the inside lining of the rectum) (Figure 2), initiation and extension of myotomy (cutting the tight muscle at the rectum and sometimes the large intestine) (Figure 3), and closure of mucosal entry (closing the internal lining with hemoclips after exiting the tunnel) (Figure 4).

Per-rectal endoscopic myotomy (PREM) is a novel endoscopy technique currently available at very few centers worldwide, Dr. Shivam Khare said.

Dr. Arora said Hirschsprung’s disease is almost identical to another disease known as Achalasia cardia, which occurs due to a blockage in the food pipe. Patients with such conditions have difficulty swallowing food, and diseases like this are being routinely treated by a novel endoscopic technique known as Per-oral endoscopic myotomy (POEM). We have already successfully performed the POEM procedure in more than 520 cases to date in our hospital. A similar concept was used in the PREM procedure to treat Hirschsprung’s disease.