Nearly half of patients with vascular Ehlers-Danlos syndrome experience gastrointestinal injuries, but men seem to carry an increased risk and severity than women, a 17-year retrospective study shows.
Ehlers-Danlos syndromes are a group of connective tissue disorders characterized by hypermobility, skin flexibility and tissue fragility. Vascular Ehlers-Danlos Syndrome (vEDS), caused by mutations in the COL3A1 gene, is the most lethal one and is estimated to affect one in 150,000 people.
The COL3A1 gene encodes for a kind of collagen that is a crucial component of the connective tissue, providing cohesion and support to our organs. Thus, vEDS patients have extremely fragile blood vessels and organ walls, and are highly susceptible to ruptures, either spontaneously or as a consequence of medical procedures.
Bowel perforations have been commonly reported in vEDS patients, but other gastrointestinal (GI) complications have only been described in case reports and small studies.
Aiming to improve the knowledge of GI injuries among vEDS patients, researchers in France retrospectively followed 133 patients (mean age 44 years) included in the French National Reference Center for Rare Vascular Diseases, from 2000 to 2017.
GI complications occurred in almost half of the subjects (41%) and more than half of these patients experienced a second GI manifestation.
Colon and spleen perforations were the most frequent first digestive complications, with the former accounting for almost half (47%) of patients.
Other commonly reported GI manifestations included spontaneous hemoperitoneum (blood in the peritoneal cavity, located between the internal organs and the inner abdominal wall) and absence of mechanical intestinal movement, which helps food travel along the intestine, causing intestinal obstruction and intra-abdominal organ rupture.
The researchers found that men seem to be more exposed to GI complications than women, both in frequency and severity. In the study, men not only experienced their first digestive event at a younger age, but also had a recurrence sooner.
Finally, vEDS patients are subject to surgical complications because of poor wound healing capacity, hernia formation on the incision site, and bleeding accidents because of fragile blood vessels.
Researchers suggest that “diagnostic colonoscopy should be avoided whenever possible as it can lead to colonic perforation.” They stress that a “rapid and correct identification of vEDS after the occurrence of a GI manifestation is therefore very important as the timing of diagnosis may influence the prognosis of the disease.”
Nonetheless, they also emphasize the need for “developing early pre-symptomatic detection” methods for the rare yet devastating disease.