Ehlers-Danlos syndrome (EDS) refers to a group of related genetic diseases that affect connective tissues. Its symptoms vary depending on the type and severity of the disease, ranging from very mild to life-threatening. Most EDS patients have joint hypermobility, meaning they can easily be dislocated.

What is disease prevalence?

Disease prevalence is an estimate of the frequency of cases recorded in a given population. This estimate is affected by the disease in question. For example, some genetic diseases only occur in small populations within a particular country or region. Some might be so rare that they may only be seen in a single family.

While the number of cases for every 1 million people are often reported worldwide, it would be disingenuous to do so for rare diseases.

How prevalent is EDS?

The prevalence of EDS differs by type of disease.

Hypermobile EDS is thought to affect between 1 in 5,000 and 1 in 20,000 individuals. The classical type is more rare, thought to affect between 1 in 20,000 and 1 in 40,000 individuals. Classical-like EDS is difficult to distinguish in medical literature reporting from the classical type, and so may also occur in roughly 1 in 20,000 to 1 in 40,000 people.

Other types of EDS are very rare, with only a few cases reported worldwide. Dermatosparaxis EDS is an example of an extremely rare type of EDS, with only a few cases recorded in medical literature. Vascular EDS is reported to have a prevalence of 1 in 100,000 individuals, and cardiac-valvular EDS a prevalence of less than 1 in a million people.

Kyphoscoliotic EDS has primarily been reported in areas of Greece, Turkey, and the Middle East. The precise prevalence of this type of EDS is not known, but the frequency of carriers (people who have one copy of a disease-causing mutation, but show no symptoms) is estimated to be 1 in 150 people in this study, last revised in 2018.

Brittle cornea syndrome also seems to be especially prevalent in the Middle East, with a small number of families being affected. The worldwide prevalence of this type is not known.

Musculocontractural EDS is also very rare and is thought to affect less than 1 in a million people worldwide, as is myopathic EDS.

Spondylodysplastic EDS has an unknown prevalence.

The combined prevalence of the different types of EDS is thought to be around 1 in 5,000 people worldwide.

New studies on prevalence

A study published in the British Medical Journal in 2019 examined the number of reported hypermobile EDS cases in Wales.

The study searched medical records for diagnoses, and found 1 in 500 medical cases between June 1990 and July 2017 with either hypermobile EDS or another type of EDS. The researchers concluded that hypermobile EDS is more common than has been previously reported, and in fact, may not be a rare disease at all.

The study also noted more patients being diagnosed in the most recent years examined, indicating that physicians are getting better at detecting EDS, especially its milder forms, which in previous decades might have gone undiagnosed. However, the Ehlers-Danlos Society, in response to the study, cautioned that its finding may not be predictive of how common EDS is worldwide.

Both groups suggest that more in-depth studies be performed, allowing for a better estimate of the worldwide prevalence of EDS.

 

Last updated: Feb. 13, 2020

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Ehlers-Danlos News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.

Emily holds a Ph.D. in Biochemistry from the University of Iowa and is currently a postdoctoral scholar at the University of Wisconsin-Madison. She graduated with a Masters in Chemistry from the Georgia Institute of Technology and holds a Bachelors in Biology and Chemistry from the University of Central Arkansas. Emily is passionate about science communication, and, in her free time, writes and illustrates children’s stories.
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Özge has a MSc. in Molecular Genetics from the University of Leicester and a PhD in Developmental Biology from Queen Mary University of London. She worked as a Post-doctoral Research Associate at the University of Leicester for six years in the field of Behavioural Neurology before moving into science communication. She worked as the Research Communication Officer at a London based charity for almost two years.
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Emily holds a Ph.D. in Biochemistry from the University of Iowa and is currently a postdoctoral scholar at the University of Wisconsin-Madison. She graduated with a Masters in Chemistry from the Georgia Institute of Technology and holds a Bachelors in Biology and Chemistry from the University of Central Arkansas. Emily is passionate about science communication, and, in her free time, writes and illustrates children’s stories.
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