Understanding Dysautonomia in Ehlers-Danlos Syndrome

Ehlers-Danlos Syndrome (EDS) is widely recognized for its effect on the connective tissues, leading to joint hypermobility, skin elasticity, and often, chronic pain. However, for many individuals, the impact goes beyond these physical symptoms. One of the more complex and challenging conditions that frequently coexists with EDS is dysautonomia, a disorder that affects the autonomic nervous system (ANS) and can disrupt vital functions such as heart rate, blood pressure, and digestion. When these two conditions intersect, they create a unique set of challenges for patients.

The Connection Between Dysautonomia and Ehlers-Danlos Syndrome

Dysautonomia and Ehlers-Danlos Syndrome share a strong connection, particularly in those with hypermobile Ehlers-Danlos Syndrome (hEDS). Dysautonomia occurs when the ANS, responsible for regulating involuntary bodily functions, malfunctions. This often presents in forms like Postural Orthostatic Tachycardia Syndrome (POTS), which is frequently seen in individuals with EDS. Studies suggest that between 12–46% of patients with POTS also have EDS, indicating a significant overlap between these conditions​​.

In POTS, a key feature of dysautonomia and Ehlers-Danlos, the heart rate increases sharply when a person stands up, often causing dizziness, fainting, and fatigue. This makes daily activities challenging for those affected. Ehlers-Danlos POTS syndrome is a particularly distressing combination of symptoms that can significantly impair quality of life​.

Symptoms of Dysautonomia in EDS

Patients with dysautonomia and Ehlers-Danlos often experience a wide range of symptoms, many of which overlap with their existing EDS challenges. These include:

• Lightheadedness and fainting: Especially when moving from lying down to standing.
• Heart palpitations: An abnormally fast heart rate, often related to dysautonomia in EDS, can be frightening and debilitating.
• Digestive issues: Conditions like gastroparesis and dysautonomia, where the stomach empties slowly, are common in those with both dysautonomia and Ehlers-Danlos Syndrome​.
• Chronic fatigue: Persistent tiredness is one of the most debilitating aspects of dysautonomia, often exacerbated by physical exertion.
• Temperature sensitivity: Difficulty regulating body temperature, often feeling too hot or cold, is another hallmark of dysautonomia. This sensitivity often coexists with Ehlers-Danlos syndrome dysautonomia, further complicating the management of the condition.

While the above symptoms can be independently attributed to EDS, the presence of dysautonomia complicates the clinical picture, making management more difficult.

Why Does EDS Cause POTS?

The link between Ehlers-Danlos and POTS likely stems from the connective tissue abnormalities that define EDS. In individuals with EDS, weakened connective tissues, particularly in the blood vessels, can make it harder for the body to regulate blood flow. This results in the ANS struggling to keep up, leading to orthostatic intolerance—a key feature of POTS​. Studies have shown that hypermobility and dysautonomia are frequent comorbidities in patients with EDS, making it clear that the conditions often go hand in hand​.

Gastrointestinal and Other Systemic Impacts

Many patients with EDS and dysautonomia experience significant gastrointestinal symptoms. These can include nausea, constipation, and bloating, all of which are exacerbated by dysautonomia-related motility issues. In fact, gastroparesis and dysautonomia often appear together, complicating the management of EDS​. For individuals with Ehlers-Danlos syndrome and POTS, gastrointestinal discomfort is often worse when standing, which is related to poor autonomic regulation of the digestive system.

Additionally, some patients with Ehlers-Danlos POTS syndrome report other systemic issues, such as low blood pressure and heart palpitations. This combination of dysautonomia and EDS leads to a significant reduction in daily functioning and quality of life, making it essential for patients to seek comprehensive medical care.

Managing Dysautonomia and Ehlers-Danlos Syndrome

Managing dysautonomia and Ehlers-Danlos Syndrome requires a multidisciplinary approach. Treatment focuses on alleviating symptoms and improving the patient's quality of life. Common strategies include:

1. Lifestyle Adjustments: Increasing salt and fluid intake can help maintain blood pressure, while wearing compression garments may reduce blood pooling in the legs.
2. Physical Therapy: Gentle exercise, like recumbent cycling or swimming, is often recommended to improve circulation without straining hypermobile joints. However, care must be taken to avoid aggravating hypermobility dysautonomia.
3. Medications: Some patients with Ehlers-Danlos syndrome POTS benefit from medications that help stabilize heart rate or blood pressure. Beta-blockers or medications like Low Dose Naltrexone (LDN) are occasionally prescribed for patients with both EDS and POTS​.
4. Nutrition Support: For those with severe gastroparesis, a tailored diet or even nutritional supplements may be necessary to maintain energy levels and digestive health​.

POTS, EDS, and Beyond

The combination of POTS and EDS is well-documented, with research highlighting a higher prevalence of POTS in individuals with hypermobile EDS​. For some, this overlap is further complicated by Mast Cell Activation Syndrome (MCAS), another condition frequently linked with EDS and POTS. These three conditions—EDS, POTS, and MCAS—are sometimes referred to as a "disease cluster," reflecting how they often co-exist and contribute to a complex spectrum of symptoms​. Patients with this cluster often face challenges beyond cardiovascular symptoms, including immune dysregulation and allergic reactions, which further strain the autonomic system.

Conclusion

The connection between dysautonomia and Ehlers-Danlos Syndrome is significant and complex, with conditions like POTS and gastroparesis contributing to the overall challenge of managing EDS. Understanding the relationship between dysautonomia and Ehlers-Danlos Syndrome helps both patients and healthcare providers tailor treatments that address the multisystem impact of these disorders. While there is no cure for either condition, a combination of medical treatments, lifestyle adjustments, and supportive care can help manage symptoms. Early diagnosis and a comprehensive treatment plan are crucial for improving the quality of life for those living with dysautonomia and EDS.

Works Cited

Boris, Jeffrey R., and Thomas Bernadzikowski. "Prevalence of joint hypermobility syndromes in pediatric postural orthostatic tachycardia syndrome." Autonomic Neuroscience, vol. 231, 2021, p. 102770.

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.

Peebles, Karen C., et al. "The prevalence and impact of orthostatic intolerance in young women across the hypermobility spectrum." American Journal of Medical Genetics Part A, vol. 188, no. 6, 2022, pp. 1761-1776.

Quigley, Eamonn M. M., et al. "The Suggested Relationships Between Common GI Symptoms and Joint Hypermobility, POTS, and MCAS." Gastroenterology & Hepatology, vol. 20, no. 8, 2024, pp. 479-489.

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