Recurrent bowel tears in younger patients could be sign of vEDS

Case report raises concerns about rare vascular Ehlers-Danlos syndrome

Lindsey Shapiro, PhD avatar

by Lindsey Shapiro, PhD |

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A 23-year-old man in Greece was diagnosed with vascular Ehlers-Danlos syndrome (vEDS) about two years after his symptoms of recurrent bowel ruptures had started, according to a recent case report.

While gastrointestinal involvement as the first sign of EDS has been reported, the rarity of the disease and its wide variety of clinical manifestations  ultimately can hinder a timely diagnosis, according to authors.

“Based on the significance of an early diagnosis, it is important to raise awareness on the possibility of vEDS in young patients presenting spontaneous and recurrent perforations of the [gastrointestinal] tract,” the researchers wrote, noting this is important even when there are no other disease-specific findings in lab and clinical tests.

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The case report, “Bowel Perforation in Vascular Ehlers–Danlos Syndrome: Case Report and Comprehensive Review,” was published in the Journal of Personalized Medicine.

Vascular EDS is a rare and serious type of Ehlers-Danlos syndrome (EDS) wherein weakness in the body’s connective tissues lead to thin skin that’s easily bruised, as well as fragile blood vessels and internal organs.

This can lead to potentially life-threatening symptoms, such as ruptures or tears in the blood vessels, causing serious internal bleeding, as well as ruptures in various organs, such as the liver, lungs, or gastrointestinal tract.

Particularly, vEDS patients are at an increased risk of bowel perforations — holes or ruptures in the intestines — that can lead to significant gastrointestinal bleeding and nutritional deficiencies.

Vascular or gastrointestinal manifestations often are the first manifestations of the disease, prompting genetic testing to look for mutations in the COL3A1 gene, which cause most vEDS cases.

First diagnosis: enterocutaneous fistula

The 23-year-old patient described in the case report was referred to the researchers’ surgical department for the management of an enterocutaneous fistula. Simply put, this is an abnormal connection between the intestinal tract or stomach and the skin that causes intestinal contents to leak out through the skin. It most often occurs after bowel surgery.

In the two years prior, the man had undergone a total of seven bowel operations due to recurring perforations in the intestinal tract. The man developed the enterocutaneous fistula after these surgeries.

A notable finding in this patient was a defect in the intestinal muscles called segmental absence of the intestinal musculature (SAIM), which is a rare cause of bowel perforation and rarer still among vEDS patients.

He had been treated previously with parenteral (intravenous) nutrition, antibiotics, and a medication called octreotide, but the fistula persisted.

A variety of diagnostic and imaging tests were performed, with no abnormal findings except for a vitamin K deficiency, which is a known consequence of parenteral feeding.

The man was suspected to have short bowel syndrome, when the body can’t absorb enough nutrients due to a short or damaged small intestine, with accompanying malnutrition.

During a procedure, it was identified that the man also had a hemothorax, which is a collection of blood in the cavity between the chest wall and the lungs, a symptom sometimes seen in vEDS. A chest tube was placed to drain the blood.

Homing in on vascular EDS diagnosis

Based on these findings, the doctors suspected he might have vEDS. Genetic testing confirmed this suspicion, identifying a known disease-causing mutation in the COL3A1 gene.

Overall, the man stayed in the researchers’ hospital for a liitle more than 2.5 months. After discharge, he went home on both parenteral nutrition and tube feeding.

As of his last assessment before the report was published — two months after his hospital discharge — the patient had gained six kilograms (about 13 pounds), now weighing 52.5 kg (about 115 pounds).

On review of previous reports, the researchers found 34 other published cases of bowel perforation as the first manifestation of vEDS.

The researchers noted that in this report, the patient did not present with commonly observed symptoms such as vomiting blood or black stools, “therefore, the diagnosis was not obvious.”

Other vascular EDS features evident

Still, he did show other features common to vEDS patients, including a hernia — a bulging of internal organs due to weakened abdominal cavity wall — improper wound healing, and bleeding complications.

“Consequently, the patient presented the entire spectrum of complications of  vEDS, although the physicians who first managed the patient were not suspicious of the syndrome,” the team wrote.

“Due to initial non-specific clinical presentation, EDS should always be included in the differential diagnoses of young patients with unexplained perforations of the gastrointestinal tract,” the investigators added.