Bowel perforations, aneurysms seen as vEDS symptoms in woman
25-year-old diagnosed during active disease management
A 25-year-old woman was diagnosed with vascular Ehlers-Danlos syndrome (vEDS) after six years of multiple bowel perforations and aneurysms (abnormal bulges in blood vessels walls), according to a case study from Lebanon.
These episodes required urgent, invasive surgeries, removal of parts of the intestine, two intensive care unit stays, and an intervention to prevent bleeding of one of the aneurysms.
The case was described in a report, “Surviving the storm: A 6-year journey with bowel perforations and aneurysms in vascular Ehlers-Danlos syndrome — A case report,” published in the International Journal of Surgery Case Reports. “A collaborative, multidisciplinary approach is crucial in effectively handling such complex cases while emphasizing the importance of active patient and caregiver involvement in the management plan,” the researchers wrote.
Along with joint hypermobility, a condition in which joints can move in a wider range of motion than normal, and unusually fragile and stretchy skin common to other EDS types, people with vEDS also have fragile arteries and internal organs, which are more prone to bulging or rupturing.
The condition is associated with a high mortality rate due to the risk of severe bleeding caused by the rupture of aneurysms or perforations in the digestive tract.
Various vEDS symptoms lead to treatment odyssey
The researchers described the case of a woman whose vEDS diagnosis came after several emergency surgeries for bowel perforations, as well as multiple antibiotics courses to treat various infections. She had a history of coughing up blood during early childhood and repair of varicose veins in the legs.
Her first episode of bowel perforation came in 2018, when acute abdominal pain required a Hartmann’s procedure to remove part of the colon. She was discharged with a functional colostomy, a procedure that creates an opening for the colon, or large intestine, through the abdomen, after a course of antibiotics. Seven months later, the colostomy was closed, and no abnormalities were identified on blood work.
In 2023, she had another episode of acute abdominal pain due to bowel perforation. She underwent surgical removal of a large portion of the large intestine, and another colostomy was created. During surgery, multiple small bowel perforations were also identified and treated.
Further analysis of the removed gut tissue revealed multiple perforations with signs of inflammation, and thinning of a muscle layer of the intestine. As local blood vessels were dilated and congested, the researchers decided to test the patient for vEDS.
Genetic testing revealed the presence of a mutation in the COL3A1 gene, which encodes type III collagen, a structural protein. Mutations in this gene are the most common cause of vEDS, so the results confirmed the patient’s vEDS diagnosis. The mutation was not identified in any other family member.
The woman started treatment with a multivitamin regimen and a daily dose of vitamin C. Vitamin C can help the body make collagen.
A follow-up CT scan revealed an aneurysm in the proper hepatic artery, which supplies the liver. In March 2024, the patient had another episode suggestive of a new bowel perforation, which despite management with antibiotics and hydration required urgent intervention that confirmed multiple gut perforations.
A false aneurysm, known as a pseudoaneurysm, was treated with the coiling technique, in which metal coils are inserted into the aneurysm to stop blood supply and reduce the risk of bleeding. An aneurysm in a wrist was treated with physiotherapy and pain management.
The woman was discharged after six weeks on pain medications, oral antibiotics, nutritional support, and wound management. She was being followed regularly at the time the study was submitted for publication.
The researchers said the case is noteworthy because it involved a young patient, diagnosed during active disease management, and the simultaneous presentation of bowel perforations and multiple aneurysms. “This case exemplifies a distinctive presentation and management of vascular Ehlers-Danlos syndrome (vEDS),” they wrote. “The primary aim is to heighten awareness, encourage early diagnosis, and disseminate management strategies.”
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