A CT scan taken from the side that shows the man’s colon, filled with feces, before it burst.
Image: Patel, et al (BMJ Case Reports)

A UK man’s worsening battle with constipation ended up costing him part of his gut, due to a rare, sometimes unexplainable condition known as megacolon. But the man’s frightening story, detailed by his doctors in BMJ Case Reports this week, might have been preventable, had others diagnosed him correctly earlier.

According to the case report, the 24-year-old man had a history of chronic constipation and pain stretching back at least four years, according to hospital admission records. By the time he arrived to an emergency room, he had been dealing with his last bout for about a week. His stomach was clearly bloated and tender to the touch, while a CT scan found that his rectum and colon were filled to the brim with feces. But the man was treated conservatively, only being prescribed oral laxatives and told to take regular enemas. The man refused the enemas, though agreed to the laxatives.

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Two days, however, he returned, now barely able to stay conscious and suffering crippling abdominal pain. A second CT scan revealed the new damage: The lower half of his colon had burst, spilling feces and air into his abdomen. Bowel perforations, as they’re called, can be life-threatening, since the bacteria found in the gut can spark a massive, fatal immune response called sepsis when they end up in the abdomen.

The man, according to the report, was sent to the intensive care unit and given emergency surgery to remove the end of the colon and shut tight the hole left behind. He also received a colostomy, which creates a new opening for bowel movements to pass through, usually via a bag placed outside of the body.

Because of the man’s symptoms, the doctors wrote, it’s likely he had a chronic megacolon, a rare condition where the colon dilates (opens up) much more widely than it normally should. People with megacolon often also have paralyzed gut muscles, the combination of which means they can’t pass feces or gas easily.

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Megacolons (and megarectum) can be either acute or chronic, and it can be caused by lots of known things, such as Crohn’s disease, certain medications, or genetic defects. But sometimes, it can happen for no identifiable reason, a type known as idiopathic megacolon.

There are a number of available treatments to manage even chronic megacolon, like regular colonics, laxatives, and dietary changes. Preemptive surgery, including colostomy, can also help the worst cases. In this man’s case, it appears, his first doctors simply didn’t think to consider megacolon as the possible cause of his trouble.

“An earlier appreciation during a previous admission that this was a rare presentation of chronic idiopathic megacolon and megarectum may have prevented the perforation and elective surgery could have been planned,” the doctors wrote.

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The report doesn’t reveal what became of the man after his surgery, but the authors seem to hope that his story can be a cautionary tale that will help other doctors identify the condition.

Update 7:10 p.m. ET: Alexandros Apostolopoulos, a surgeon at Newham University Hospital in London and an author of the paper, sent Gizmodo further context about the case via email:

“This was a very challenging case. This patient had autism spectrum disorder. Chronic constipation is very common in these patients as well as [their] non-compliance with medical advice. It was difficult to get consent to offer elective surgery. The result was bowel perforation and an emergency operation. This was a rare and extreme case. If an elective operation was performed things would have gone ‘smoother.’ The patient however is doing very well. We have seen him several times for his follow up appointments and he is very happy. As for the take-home message, early treatment of any condition is always the best option.”

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[BMJ Case Reports via Ars Technica]