Ehlers-Danlos Syndrome and POTS

Ehlers-Danlos Syndrome (EDS) and Postural Orthostatic Tachycardia Syndrome (POTS)

Ehlers-Danlos Syndrome (EDS) and Postural Orthostatic Tachycardia Syndrome (POTS) often coexist, presenting a complex clinical picture that significantly impacts patients' quality of life. Understanding their connection is vital for effective diagnosis, treatment, and management.

What Are EDS and POTS?

Ehlers-Danlos Syndrome (EDS) is a group of connective tissue disorders characterized by:

• Joint hypermobility
• Skin hyperextensibility
• Tissue fragility

The most common type, hypermobile EDS (hEDS), causes symptoms such as chronic pain, fatigue, and gastrointestinal issues.

Postural Orthostatic Tachycardia Syndrome (POTS) is a form of dysautonomia affecting blood flow and causing symptoms like:

• Dizziness and fainting
• Rapid heart rate when standing
• Fatigue and brain fog

POTS primarily affects adolescents and young adults, and its symptoms often overlap with those of EDS.

EDS vs. POTS: Key Differences and Overlap

While EDS and POTS are distinct conditions, they often occur together:

• EDS: Primarily affects connective tissues, leading to hypermobility, skin fragility, and systemic complications.
• POTS: Impacts the autonomic nervous system, resulting in cardiovascular symptoms such as rapid heart rate and dizziness.

Both conditions can exacerbate each other, making comprehensive care essential.

Prevalence of EDS and POTS

• Prevalence in EDS Patients: Approximately 80% of individuals with EDS also experience symptoms of POTS.
• Prevalence in POTS Patients: Around 31% of POTS patients are diagnosed with hypermobile EDS (hEDS).

Not all individuals with hypermobility have EDS; some may have hypermobility spectrum disorder (HSD) or benign joint hypermobility, which are less likely to cause chronic symptoms.

The Connection Between EDS and POTS

There are several reasons why POTS may be so common in individuals with EDS:

• Blood Vessel Abnormalities: EDS may affect blood vessels, leading to issues with blood flow regulation, contributing to POTS symptoms.
• Autonomic Dysfunction: Dysregulation of the autonomic nervous system in POTS can exacerbate symptoms of EDS, creating a cycle of symptom worsening.
• Shared Genetic and Structural Features: Weak connective tissues in EDS can disrupt normal blood circulation and autonomic functions, increasing susceptibility to POTS.

Diagnosing EDS and POTS

Diagnosing these conditions can be challenging due to overlapping symptoms:

• EDS Diagnosis: Involves clinical evaluation, genetic testing, and tools like the Beighton scoring system for hypermobility.
• POTS Diagnosis: Includes heart rate monitoring, tilt table testing or the Nasa Lean Test, and blood tests to rule out other conditions such as thyroid disorders or anemia.

Key diagnostic criteria for POTS include an increase in heart rate of more than 30 beats per minute upon standing (or 40 bpm in adolescents) without a significant drop in blood pressure.

Living with EDS and POTS

Living with the complex and overlapping symptoms of EDS and POTS can be challenging. Many individuals require care from a multidisciplinary team, which may include:

• Rheumatologists
• Cardiologists
• Neurologists
• Physical therapists

In addition to medications and daily management, people with POTS and EDS should attend regular heart screenings to monitor for structural problems. Echocardiograms can help detect potential issues early.

EDS, POTS, and Pregnancy

Pregnancy poses unique challenges for individuals with EDS and POTS, including:

• Increased risks of joint dislocations and cardiac complications.
• Fainting episodes and blood pressure instability.

A high-risk obstetrician with experience in EDS and POTS can help mitigate complications and ensure a safer pregnancy.

Things to Avoid for EDS and POTS Patients

• For EDS Patients: Avoid high-impact activities like running or heavy weightlifting to prevent joint dislocations.
• For POTS Patients: Focus on safe, low-impact exercises like swimming or using a recumbent bike to prevent fainting.

Both conditions benefit from individualized physical therapy.

Dietary Strategies for EDS and POTS

Dietary interventions can significantly improve symptoms:

• Increase Salt and Fluid Intake: To enhance blood volume and improve orthostatic tolerance.
• Anti-inflammatory Foods: Support connective tissue health and reduce inflammation.
• Small, Frequent Meals: Prevent postprandial blood pooling.
• Nutrient-Dense Foods: Address deficiencies common in these conditions.

EDS and POTS Treatment Options

Effective management of patients with both EDS and POTS requires a multidisciplinary approach:

1. Medications:
   • Beta-Blockers: Help manage heart rate.
   • Fludrocortisone: Increases blood volume to reduce orthostatic symptoms.
   • Midodrine: Constricts blood vessels to improve blood flow.
2. Lifestyle Modifications:
   • Hydration and Diet: High salt and fluid intake to increase blood volume.
   • Compression Garments: Support blood flow in the lower extremities.
   • Physical Therapy: Tailored exercises to improve joint stability and cardiovascular conditioning.
3. Psychological Support:
   • Cognitive Behavioral Therapy (CBT): Addresses the psychological impact of chronic illness.
   • Support Groups: Provide community and shared experiences.

Multidisciplinary Care for POTS and EDS

Given the complexity of managing EDS and POTS, patients benefit from a team approach involving:

• Rheumatologists: For joint and connective tissue management.
• Cardiologists: For POTS and other cardiovascular issues.
• Gastroenterologists: To address gastrointestinal symptoms.
• Neurologists: For autonomic dysfunction and neurological symptoms.
• Psychologists or Psychiatrists: For mental health support.

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FAQs about POTS and EDS

Is POTS a symptom of hEDS?

POTS is not a direct symptom of hEDS but is frequently associated with it. The connective tissue abnormalities in hEDS can contribute to autonomic dysfunction, leading to POTS.

What percentage of people with hEDS have POTS?

Approximately 31% of individuals with POTS meet the diagnostic criteria for hEDS, highlighting a significant overlap between these conditions.

What is the life expectancy of someone with EDS and POTS?

Life expectancy is typically normal for individuals with hypermobile EDS and POTS, provided complications are well-managed. Life expectancy can vary depending on the EDS subtype and the presence of complications. Most people with EDS have hEDS and a normal lifespan, but regular monitoring and management of symptoms are still important for symptom management.

Why does EDS cause POTS?

Weak connective tissues in EDS can impair blood vessel function, leading to autonomic dysregulation characteristic of POTS.

What are overlapping POTS and EDS symptoms?

Both conditions share symptoms such as dizziness, fatigue, brain fog, and gastrointestinal issues.

Are there surgical treatments for EDS-related complications?

In severe cases, joint stabilization surgery may be necessary, but outcomes can be complicated by tissue fragility and slow healing.

What is the connection between EDS, POTS, and MCAS?

EDS, Postural Orthostatic Tachycardia Syndrome (POTS), and Mast Cell Activation Syndrome (MCAS) often coexist. POTS involves issues with blood flow and heart rate when moving from lying down to standing, while MCAS results in allergic-like reactions without a known allergen. These conditions together can complicate diagnosis and treatment, requiring a comprehensive approach.

What autoimmune disease is associated with Ehlers-Danlos syndrome?

There is no direct association between EDS and autoimmune diseases, but some patients report coexisting autoimmune conditions. The relationship is not fully understood and requires further research.

What is the trifecta Ehlers-Danlos syndrome?

The trifecta refers to the co-occurrence of EDS, POTS, and MCAS, which presents a complex clinical picture due to the overlap of symptoms affecting multiple systems. Sometimes EDS, POTS, and other conditions are grouped into a syndrome called the Pentad Super Syndrome.

Can you have both POTS and EDS?

Yes, many individuals with EDS also have POTS. Symptoms of POTS can include dizziness, fainting, and rapid heart rate upon standing, which can overlap with symptoms of EDS.

What is the EDS POTS triad?

The EDS POTS triad refers to the combination of EDS, POTS, and MCAS, which can significantly impact a patient's quality of life and require a coordinated treatment approach.

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References

1. Miglis, M. G., Schultz, B., & Muppidi, S. (2017). Postural tachycardia in hypermobile Ehlers-Danlos syndrome: A distinct subtype? Autonomic Neuroscience, 224, 102637. https://doi.org/10.1016/j.autneu.2020.102637
2. Grigoriou, E., Boris, J. R., & Dormans, J. P. (2015). Postural Orthostatic Tachycardia Syndrome (POTS): Association with Ehlers-Danlos Syndrome and Orthopaedic Considerations. Clinical Orthopaedics and Related Research, 473(2), 722-728. https://doi.org/10.1007/s11999-014-3898-x
3. Miller, A. J., Stiles, L. E., Sheehan, T., Bascom, R., Levy, H. P., Francomano, C., & Arnold, A. C. (2020). Prevalence of Hypermobile Ehlers-Danlos Syndrome in Postural Orthostatic Tachycardia Syndrome. Autonomic Neuroscience, 224, 102637. https://doi.org/10.1016/j.autneu.2020.102637
4. Tinkle, B., Castori, M., Berglund, B., Cohen, H., Grahame, R., Kazkaz, H., & Levy, H. (2017). Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome Type III and Ehlers-Danlos syndrome hypermobility type): Clinical description and natural history. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 175(1), 48-69. https://doi.org/10.1002/ajmg.c.31538

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