Gastrointestinal Disorders in Ehlers-Danlos Syndrome and POTS

Ehlers-Danlos Syndrome (EDS) is widely known for its effects on connective tissues, leading to joint hypermobility, skin elasticity, and chronic pain. However, a lesser-known aspect of EDS is its impact on the gastrointestinal (GI) system. Many individuals with EDS, especially those with hypermobile Ehlers-Danlos Syndrome (hEDS), experience a range of GI disorders that can significantly impair their quality of life. The situation becomes even more complex when Postural Orthostatic Tachycardia Syndrome (POTS)—a form of dysautonomia—is present, as it exacerbates many gastrointestinal symptoms.

How EDS Affects the Digestive System

The gastrointestinal system relies on strong, healthy connective tissues to function properly. Since collagen, the primary protein affected in EDS, is vital for providing structure and support to tissues, its dysfunction in people with EDS impacts several organs, including those in the digestive tract. Issues like gut dysmotility, a disruption in the normal movement of food through the GI tract, are common in EDS due to weakened connective tissues, which affect peristalsis (the rhythmic contractions of the gut).

Moreover, the connective tissue abnormalities present in EDS extend to the nerves that regulate gut function, potentially increasing gut sensitivity. This hypersensitivity may lead to symptoms such as bloating, abdominal pain, and nausea, even when no structural abnormalities are found.

Common GI Symptoms in EDS

1. Irritable Bowel Syndrome (IBS)
   One of the most frequently reported functional GI disorders (FGIDs) in people with EDS is IBS, which is characterized by recurrent abdominal pain, bloating, diarrhea, and constipation. Studies indicate that a significant proportion of people with hypermobile EDS (hEDS) meet the diagnostic criteria for IBS. Autonomic dysfunction, such as that seen in POTS, may contribute to the development of IBS in EDS patients​​. Research has shown that IBS affects 37% of patients with hEDS, and its prevalence in GI clinics is noteworthy​.
2. Gastroparesis
   Gastroparesis, or delayed gastric emptying, is another condition seen in patients with EDS. In this condition, the stomach muscles do not function properly, leading to slow movement of food into the small intestine. Symptoms include nausea, vomiting, early satiety, and bloating​. While gastroparesis can be diagnosed through gastric emptying studies, a milder form of this condition, referred to as dysmotility, is more common in hEDS. This results in sluggish digestion and prolonged feelings of fullness after eating.
3. Gastroesophageal Reflux Disease (GERD)
   Many people with Ehlers-Danlos Syndrome experience GERD, or acid reflux, which occurs when stomach acid flows back into the esophagus. This is often due to a hiatal hernia, where the upper part of the stomach moves into the chest through a hole in the diaphragm, weakening the valve that prevents acid reflux​. Other contributors to GERD in EDS patients include poor esophageal motility and increased sensitivity of the esophagus.
4. Constipation and Bloating
   Constipation is a common issue for patients with hEDS. This can be caused by weakened connective tissues in the bowel, leading to sluggish movement of stool and the buildup of gas. Additionally, rectal prolapse, a condition where the rectum protrudes into the vaginal wall or outside the anus, can complicate bowel movements in some patients​. Although not all patients experience prolapse, those who do may require surgical intervention to correct the issue.

The Role of POTS in GI Dysfunction

Postural Orthostatic Tachycardia Syndrome (POTS) is a form of dysautonomia that often coexists with EDS, further complicating gastrointestinal symptoms. POTS affects the autonomic nervous system, which controls involuntary functions like heart rate, blood pressure, and digestion. The disruption of this system in POTS can lead to gastrointestinal dysmotility. Patients with POTS often report nausea, bloating, constipation, and diarrhea, particularly after eating. In some cases, rapid gastric emptying—the opposite of gastroparesis—has been observed​​.

Studies have shown that POTS is strongly associated with GI symptoms in people with EDS. Approximately 87% of individuals with POTS report GI issues such as reflux, bloating, and abdominal pain​. The exact mechanism linking POTS and GI dysfunction is not well understood, but it is believed to involve autonomic regulation of blood flow to the digestive system, which can be impaired when standing or moving​.

Gastrointestinal Involvement in Other EDS Subtypes

While hEDS is most commonly associated with GI disorders, other EDS subtypes, such as vascular EDS (vEDS) and classical EDS (cEDS), also present unique gastrointestinal challenges. Patients with vascular EDS are at increased risk for organ perforations in the gastrointestinal tract, especially during procedures like colonoscopies. The risk of large intestine perforation is particularly high​ . In classical EDS, patients may develop diverticular disease, where small pouches form in the walls of the bowel, leading to complications such as infection or bowel obstruction​ .

Management and Care Guidelines

Currently, there are no specific evidence-based guidelines for managing gastrointestinal symptoms in EDS patients. However, treatment is generally guided by best practices and the experience of specialists in the field. Dietary management is a crucial aspect of care for many patients. For instance, patients with IBS or gastroparesis often benefit from dietary adjustments such as the low-FODMAP diet, which helps reduce symptoms like bloating and diarrhea . Additionally, prokinetic agents may be used to improve motility in patients with delayed gastric emptying.

For more severe cases, surgical intervention may be necessary, particularly in patients with vascular EDS who experience perforations or prolapse. Surgical procedures in EDS patients require extra caution due to the fragility of connective tissues and the risk of excessive bleeding .

Future Directions

Research into the exact mechanisms underlying the connection between EDS and GI symptoms is ongoing. Future studies are needed to:

1. Better understand how connective tissue abnormalities affect gastrointestinal function in EDS.
2. Identify why some EDS patients develop severe GI symptoms, while others do not.
3. Develop targeted treatments to improve quality of life for patients with EDS and GI dysfunction .

Conclusion

Gastrointestinal issues are a significant and often under-recognized problem in Ehlers-Danlos Syndrome. Whether patients experience IBS, gastroparesis, GERD, or constipation, these issues can severely impact their quality of life. The overlap of POTS and EDS compounds the complexity of managing these symptoms, requiring a comprehensive, multidisciplinary approach. While research continues to uncover more about the relationship between EDS, POTS, and GI symptoms, current treatments focus on symptom management through dietary adjustments, medications, and, in some cases, surgery. Greater awareness of these issues will help guide more effective management strategies for those living with this challenging condition.

References

Brockway, Laura. "Gastrointestinal Problems in Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders." Wingate Institute of Neurogastroenterology, London.

Fikree, Asma, et al. "Gastrointestinal Involvement in the Ehlers-Danlos Syndromes." American Journal of Medical Genetics Part C: Seminars in Medical Genetics, vol. 175, no. 1, 2017, pp. 181–187.

Mathias, Christopher J., et al. "Dysautonomia in the Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders—with a Focus on the Postural Tachycardia Syndrome." American Journal of Medical Genetics Part C: Seminars in Medical Genetics, vol. 187, no. 4, 2021, pp. 510-519.

Nelson, A. D., et al. "Ehlers-Danlos Syndrome and Gastrointestinal Manifestations: A 20-Year Experience at Mayo Clinic." Neurogastroenterology and Motility, vol. 27, no. 11, 2015, pp. 1657-1666.

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