Tear in bowel caused by coexisting condition in man with vEDS

SAIM can also lead to fragile tissues that cause bowel problems

Margarida Maia, PhD avatar

by Margarida Maia, PhD |

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A man with vascular Ehlers-Danlos syndrome (vEDS) had life-saving emergency surgery to repair a tear in his bowel caused by segmental absence of intestinal musculature (SAIM), a condition where a part of the bowel wall’s muscle is missing.

Both vEDS and SAIM can lead to fragile tissues that can cause bowel problems, so doctors must be vigilant, especially if a patient has constipation or is undergoing an examination that increases pressure in the intestine.

The case was described by researchers in Japan in “A case of sigmoid colon perforation due to segmental absence of intestinal musculature (SAIM) accompanied by vascular Ehlers–Danlos syndrome: a case report,” published in Surgical Case Reports.

People with vEDS have very fragile tissues, including blood vessels, and are at high risk for complications related to severe bleeding and internal organ damage. The disease is viewed as the most severe of all types of EDS.

Spontaneous bowel tear (perforation) is a possible complication that requires immediate surgery. Another cause of a bowel perforation may be the loss of a part of the muscularis propria, a layer of smooth muscle that lines the digestive tract and helps food move through the gut.

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Having vEDS, SAIM together is rare

The condition, called SAIM, is more common in babies with low birth weight, but is rare in adults. Even rarer is having both vEDS and SAIM. “There has been no report of these diseases occurring together in an adult to date,” wrote the researchers, who described the case of a man in his 30s diagnosed with vEDS by genetic testing.

The man had a tear (dissection) in the largest blood vessel (aorta) near the thorax. He also had a weakened and bulging area (aneurysm) in the abdominal aorta. He had two major surgeries, one to repair the aorta and another to restore proper blood flow to the abdominal aorta.

The man complained of abdominal pain a week later and a CT scan revealed free air and fluid buildup in the upper abdomen, raising concerns of a perforation in the digestive tract.

During an emergency surgery, doctors removed a collection of blood (hematoma) from the back of the abdominal cavity, but there was no sign that fluid had leaked from the bowel, or intestine.

Four days later, however, the man had more abdominal pain and a new CT scan revealed free air around the tissue that attaches the large intestine to the abdominal wall. A second emergency surgery was performed to make an incision in the midline of the abdomen.

There was leakage of intestinal fluid near the junction between the S-shaped part of the colon (sigmoid colon) and the descending colon that travels down the left side of the abdomen, “which was thought to be from a perforation in the same area.” Indeed, a perforation was found in the sigmoid colon, specifically around that junction.

The doctors removed the affected parts of the colon and made a transverse colostomy in the left upper abdomen. A colostomy involves using a part of the colon to create an opening (stoma) through which waste can exit the body.

When they looked at the intestinal tissue under a microscope, they found no problems with blood flow or pockets in the colon (diverticula), but did see that the muscularis propria was missing around the perforation, confirming a diagnosis of SAIM.

After the surgery and a smooth recovery period, the man was discharged from the hospital. He continued to be checked regularly as an outpatient and hasn’t had any more complications.

“There have been no reports of adult patients with coexisting vEDS who had perforation of the sigmoid colon due to SAIM and underwent surgical treatment,” the researchers wrote. “Herein, we reported a case in which the patient was rescued by a surgical procedure, although the preoperative diagnosis was difficult and the patient’s intestinal tissue was vulnerable.”

SAIM is one of the “less common causes of gastrointestinal perforation” and fragile tissue from EDS, the researchers noted.