Missed EDS signs show doctors must see patient’s whole picture

In order for doctors to accurately recognize Ehlers-Danlos syndrome (EDS), they need to consider a patient’s clinical history as a whole, a case study shows.

A team of scientists in Japan described the case of a woman in her 60s who had a history of both intestinal tears and joint dislocations. Together, these features are suggestive of EDS — but until the woman was seen at an emergency center due to a painful digestive infection, no doctor had put the pieces together as indicative of the disease.

The study, “Late Recognition of Suspected Ehlers-Danlos Syndrome After Recurrent Small-Bowel Perforations: A Case Report,” was published in the Journal of General and Family Medicine.

EDS encompasses a group of genetic disorders that affect the body’s connective tissue, leading to EDS symptoms such as unusually stretchy skin and abnormally mobile joints. Some forms of EDS can also cause problems with the body’s internal tissue, leading to serious complications like internal bleeding.

Recommended Reading

Sept. 8, 2026 Columns by Lacy Rosenbaum

The long quest to learn the reasons for my strange symptoms and illnesses

Long history of joint, intestinal issues

The woman had a long history of joint issues: Her hips had been dislocated when she was born, and over the course of her life she’d experienced multiple shoulder dislocations that required surgical intervention, as well as additional surgeries on her knee and hip.

She also had a history of intestinal perforation (tears in the digestive tract). She’d experienced two such emergencies, more than a decade apart.

The intestinal ruptures were long assumed to be unrelated to the woman’s joint issues. But when she was seen at an emergency clinic for what turned out to be a bacterial infection, her doctors realized that an EDS diagnosis might explain both of these complications. Upon evaluation, they found that she had unusually stretchy skin, another hallmark of EDS.

The researchers noted that the woman’s joint issues most closely resemble what is typically seen in people with a form of the condition called arthrochalasia EDS (aEDS). At the same time, intestinal perforations are more commonly associated with vascular EDS (vEDS).

Since the genetic causes of aEDS and vEDS are established, clinicians offered the woman genetic testing, which could potentially confirm the diagnosis. The woman ultimately chose not to undergo genetic testing, leaving the researchers unable to definitively confirm if she had EDS and, if so, which subtype.

“In this patient, systematic assessment met the minimal clinical criteria suggestive for aEDS, while recurrent bowel perforation also raised concern for vEDS. Because molecular testing was declined, the specific [genetic] EDS subtype could not be confirmed,” the researchers wrote.

Although the diagnosis could not be confirmed definitively, the researchers said the woman’s experience emphasizes the importance of considering EDS as a possible explanation in patients with histories of both joint issues and intestinal perforations.

“Recurrent unexplained gastrointestinal perforations with long-standing joint instability and [stretchy skin] should prompt consideration of EDS, even in older adults,” the team concluded.