Patients with hypermobile Ehlers-Danlos syndrome (hEDS) have an increased prevalence and severity of gastrointestinal (GI) symptoms, and use more potentially damaging medications than healthy people without the disorder, according to a new study.
The data also showed that hEDS patients have a worse quality of life than patients with Marfan syndrome, a disorder also affecting connective tissue.
These findings were reported in the study, “Gastrointestinal Symptoms in Marfan Syndrome and Hypermobile Ehlers-Danlos Syndrome,” published in the journal Gastroenterology Research and Practice.
Marfan syndrome is a genetic disorder caused by a mutation in the FBN1 gene. Like hEDS — the most common EDS type — it is characterized by joint hypermobility, which refers to joints that easily move beyond the normal range.
Studies have reported frequent occurrence of GI symptoms in patients with connective tissue hypermobility, especially in patients with hEDS.
In an effort to compare the incidence of GI symptoms in patients with hEDS and those with Marfan syndrome, the team employed standardized definitions for GI symptoms using the Diagnostic Rome IV questionnaire, and assessed the overall perception of health and well-being with the RAND Short Form (SF)-36 questionnaire.
The use of the most common medications affecting GI function in the last six months was also compared.
The study took place at St. George’s Hospital in London, and included a total of 45 patients with Marfan syndrome (33 women, mean age 28, age range 19-41), and 45 patients with hEDS (39 women, mean age 24, age range 18-32), with no previous GI diagnosis.
Age- and gender-matched controls without hEDS or Marfan syndrome were also recruited from an outpatient clinic at St. George’s Hospital.
Patients with hEDS or Marfan syndrome reported significantly more GI symptoms than controls. Specifically, abdominal pain; bowel symptoms (including constipation); heartburn (a burning sensation in the chest or throat); dysphagia (swallowing problems); and dyspepsia (indigestion) were all significantly more common in patients than in controls.
Patients with Marfan syndrome had a higher incidence of abdominal pain, diarrhea, and constipation than the control group, although only the difference in abdominal pain was statistically significant.
Patients with hEDS had a significantly higher prevalence of all assessed GI symptoms; and these were more frequent and severe. They had more frequent functional GI disorders (FGIDs), including heartburn, dysphagia, dyspepsia, irritable bowel syndrome, constipation, diarrhea, abdominal bloating, and unspecified bowel disorder, compared to controls.
“FGIDs are reported in both Marfan syndrome and hypermobile Ehlers-Danlos syndrome, but appear to be more common and severe in hEDS,” the researchers wrote.
Hypermobile EDS patients also used significantly more potentially GI-impacting medications.
As for the results of the SF-36 questionnaire, hEDS patients appeared to have a significantly worse quality of life (lower scores) than controls in all assessed domains, namely in physical functioning, limitations due to physical health or emotional problems, level of energy or fatigue, emotional well-being, social functioning, pain, and general health.
Those with Marfan syndrome had a worse quality of life compared to controls (mean score 54.2 vs. 78.8), but not as bad as hEDS patients (mean score 54.2 vs. 48.6).
“[Hypermobile EDS] patients score lower on quality of life scores as well despite hypermobility being a common feature of both conditions,” the researchers wrote.
According to the team, additional studies are needed “to understand the impact of connective tissue disorders on gastrointestinal symptoms.”