How Common is Ehlers Danlos Syndrome?

Ehlers-Danlos Syndrome (EDS) refers to a group of heritable disorders affecting connective tissue. It manifests in various ways, including joint hypermobility, skin hyperextensibility, and tissue fragility. While its symptoms can range from mild to life-threatening, understanding its prevalence is essential for improving diagnosis, treatment, and awareness.

What is Disease Prevalence?

Disease prevalence refers to how common a condition is within a population at a given time. This measure helps researchers and healthcare providers assess the impact of the condition and allocate resources appropriately. Rare diseases like EDS often present unique challenges in accurately determining prevalence due to underdiagnosis, lack of awareness, and regional variations in healthcare access.

Prevalence by EDS Type

The prevalence of EDS varies significantly depending on the subtype:

1. Hypermobile EDS (hEDS): The most common subtype, hEDS, is now thought to affect approximately 1 in 500 to 1 in 5,000 individuals based on newer studies. Earlier estimates suggested it was much rarer, but increasing awareness and improved diagnostic criteria have led to more diagnoses.
2. Classical EDS (cEDS): This type affects 1 in 20,000 to 1 in 40,000 individuals. It presents with skin hyperextensibility and joint hypermobility.
3. Vascular EDS (vEDS): One of the rarer subtypes, it affects 1 in 100,000 to 1 in 200,000 people and is associated with life-threatening complications like arterial or organ rupture.
4. Other Rare Subtypes: Dermatosparaxis EDS, kyphoscoliotic EDS, and others often have fewer than 1 in a million cases documented globally.

Emerging Research Suggest EDS Is More Common

Research, such as a study in Wales analyzing electronic medical records, suggests that hEDS and hypermobility spectrum disorders (HSD) might be more common than previously thought, with prevalence rates as high as 1 in 500 individuals in certain populations​​. This raises questions about whether EDS should still be classified as a rare disease.

It's Hard To Accurate Assess The Prevalence of EDS

Several factors complicate the determination of EDS prevalence:

• Misdiagnosis or Late Diagnosis: Many individuals with milder forms of EDS may go undiagnosed for years due to overlapping symptoms with other conditions like fibromyalgia or arthritis.
• Lack of Awareness: Some healthcare providers are unfamiliar with EDS, leading to underreporting and misclassification.
• Evolving Diagnostic Criteria: Updated criteria, particularly for hEDS, have helped distinguish it from other hypermobility-related conditions but also challenge historical prevalence estimates.

Why Is Prevalence Important?

Knowing how common EDS is helps direct resources for better diagnosis, treatment, and research. As awareness grows, the need for specialized care centers, education for healthcare providers, and support for individuals with EDS becomes increasingly evident.

Future Direction Of Research

Research continues to improve our understanding of EDS prevalence. Larger, population-based studies using standardized diagnostic criteria are essential for more accurate estimates. This, combined with increased global awareness and advocacy, can shift the narrative from "rare" to "underdiagnosed" for certain EDS subtypes, ultimately leading to better care and outcomes for those affected.

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FAQ

What percent of the population has EDS?

Approximately 0.02%–0.1% of the global population is thought to have EDS when all subtypes are combined. This means that around 1 in 5,000 individuals may be affected. However, newer studies indicate that hypermobile EDS may be underdiagnosed, potentially leading to a higher overall percentage than currently estimated.

What is the prevalence of Ehlers-Danlos syndrome?

The prevalence of EDS depends on the specific subtype:

• Hypermobile EDS (hEDS): 1 in 500 to 1 in 5,000 people.
• Classical EDS (cEDS): 1 in 20,000 to 1 in 40,000.
• Vascular EDS (vEDS): 1 in 100,000 to 1 in 200,000.
• Rare subtypes (e.g., kyphoscoliotic or dermatosparaxis EDS): Fewer than 1 in 1,000,000 globally.

How common is Ehlers-Danlos?

Ehlers-Danlos is considered uncommon, but hypermobile EDS (hEDS), its most prevalent subtype, is more common than previously believed, potentially affecting 1 in 500 people. Meanwhile, other types, such as vascular or kyphoscoliotic EDS, remain exceedingly rare.

How many people have Ehlers-Danlos?

Globally, it is estimated that millions of individuals are affected by Ehlers-Danlos syndrome. Hypermobile EDS likely accounts for the majority of these cases, while fewer individuals have rarer forms such as vascular or classical EDS. The true number may be higher due to underdiagnosis.

How common is Ehlers-Danlos syndrome?

The most common subtype, hypermobile EDS (hEDS), may affect up to 1 in 500 people, suggesting it is more widespread than previously assumed. However, the collective rarity of other subtypes contributes to the perception of EDS as a rare condition overall.

How many people have Ehlers-Danlos syndrome?

While exact numbers are hard to determine, EDS is estimated to affect 1 in 5,000 individuals globally when all subtypes are considered. Hypermobile EDS represents the majority of these cases, while the rarest subtypes, such as vascular or arthrochalasia EDS, impact far fewer people.

Is EDS a rare disease?

EDS is a collection of disorders with varying degrees of rarity. Hypermobile EDS (hEDS) may no longer qualify as a rare disease due to its higher prevalence, but other forms, like vascular EDS or kyphoscoliotic EDS, remain rare or ultra-rare by standard definitions.

How rare is Ehlers-Danlos syndrome?

The rarity of Ehlers-Danlos syndrome depends on the subtype. Hypermobile EDS, affecting as many as 1 in 500 people, is relatively common. On the other hand, rarer forms like vascular or dermatosparaxis EDS occur in fewer than 1 in 100,000 individuals, meeting the criteria for rare diseases.

Is Ehlers-Danlos syndrome really so rare?

Hypermobile EDS challenges the perception of EDS as a rare condition due to its estimated prevalence of up to 1 in 500 individuals. However, many other subtypes, such as classical or vascular EDS, remain rare, with prevalence rates significantly lower than 1 in 10,000.

How common is EDS?

EDS, as a group of disorders, includes both relatively common subtypes like hypermobile EDS and extremely rare ones like kyphoscoliotic or dermatosparaxis EDS. Hypermobile EDS, the most common subtype, may affect 1 in 500 people, making it much more common than other forms.

How rare is EDS?

The rarity of EDS varies by type. While hypermobile EDS is increasingly recognized as relatively common, affecting up to 1 in 500 individuals, most other subtypes, such as vascular or classical EDS, are much rarer, affecting fewer than 1 in 20,000 people globally.

Is EDS more common in certain ethnicities?

Currently, there is no strong evidence to suggest that EDS prevalence differs significantly among ethnicities. Factors such as diagnostic awareness, healthcare access, and genetic variations may influence detection rates, but more research is needed to determine if certain ethnicities are more predisposed to specific subtypes.

What percentage of the US population has Ehlers-Danlos?

Between 60,000 and 3 Million people in the USA live with Ehlers Danlos Syndrome, but the true prevalence is not yet known due to underdiagnosis.

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References

• Cederlöf, M., Larsson, H., Lichtenstein, P., Almqvist, C., Serlachius, E., & Fazel, S. (2016). Prevalence of psychiatric disorders in individuals with Ehlers-Danlos syndrome or hypermobility syndrome and their siblings. BMC Psychiatry, 16(1), 207. https://doi.org/10.1186/s12888-016-0922-6
• Demmler, J. C., Atkinson, M. D., Reinhold, E. J., Choy, E., Lyons, R. A., & Brophy, S. T. (2019). Diagnosed prevalence of Ehlers-Danlos syndrome and hypermobility spectrum disorder in Wales, UK: A national electronic cohort study and case-control comparison. BMJ Open, 9(11), e031365. https://doi.org/10.1136/bmjopen-2019-031365
• Malfait, F., Francomano, C., Byers, P., Belmont, J., Berglund, B., Black, J., ... & Tinkle, B. (2017). The 2017 international classification of the Ehlers-Danlos syndromes. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 175(1), 8–26. https://doi.org/10.1002/ajmg.c.31552

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