Ehlers-Danlos Syndrome Statistics

Some disorders we get later on in our lives, like insomnia or hypertension. However, some we get upon conception. These disorders are genetic, meaning the people that have them have differences in key sections in their DNA that cause physical abnormalities. Ehlers–Danlos Syndromes (EDS) are a group of genetic disorders that negatively affect connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. These defects in connective tissues cause the signs and symptoms of EDS, which range from mildly loose joints to life-threatening complications.

People with EDS can have weak muscle tones, weak and unstable joints, and fragile tissues like blood vessels that easily tear. Because of these abnormal physical conditions, normal physical activities can be difficult for people with EDS. Something as simple as sleep can be problematic.

(US National Library of Medicine)

The Most Surprising Ehlers-Danlos Syndrome Statistics

• There are currently 13 types of EDS.
• The combined prevalence of all types of EDS appears to be at least 1 in 5,000 individuals worldwide.
• The hypermobile and classical forms are most common, which are estimated to account for 90% of cases.
  • The hypermobile type may affect 1 in 5,000 to 20,000 people.
  • The classical type may occur in 1 in 20,000 to 40,000 people.
• Mutations in at least 19 genes have been found to cause the different EDS types.
• Obstructive sleep apnea can be present in as many as 32% of people with EDS.
• Insomnia can be present in as many as 33% of people with EDS.

(Us National Library of Medicine), (Journal of Clinical Sleep Medicine), (BMJ Military Health),

(Oxford Academic Journals)

General Ehlers-Danlos Syndrome Statistics and Facts

1. The 13 types of Ehlers-Danlos and their short descriptions are shown below. Take note that there are overlaps among the types.

• Hypermobile EDS

Characterized by hypermobility in large and small joints that can lead to joint dislocations. People with hypermobile EDS have soft, smooth, and velvety skin that bruises easily. They can also have chronic pain in the muscles and bones.

• Classical EDS

Characterized by extremely fragile, stretchy, smooth skin that bruises and splits easily. The skin heals slowly and is prone to wide atrophic scars. Joints are also hypermobile.

• Vascular EDS

This is a rare type of EDS and is often considered the most serious. It is characterized by thin translucent skin that is extremely fragile and bruises easily. Arteries and some organs such as the intestines and uterus are fragile and prone to rupture. The lungs are also prone to collapse. People with vascular EDS are typically short, have thin scalp hair, large eyes, a thin nose, and lobeless ears. Small joints like the toes and fingers are hypermobile.

• Kyphoscoliosis EDS

Kyphoscoliosis EDS is also rare. People with this type are commonly born with weak muscle tones (hypotonia). They have delayed motor development and have spines that start to curve (scoliosis) in early childhood and gets worse in teenage years. Affected people also bruise easily, their arteries are prone to rupture, and their eyes are prone to damage. They also have the typical soft velvety skin that is stretchy, bruises easily, and scars.

• Arthrochalasia EDS

Characterized by severe joint hypermobility and congenital hip dislocation. Other common features include fragile elastic skin with easy bruising; hypotonia; kyphoscoliosis (kyphosis and scoliosis); and mild osteopenia.

• Dermatosparaxis EDS

Characterized by extremely fragile and saggy skin that severely bruises and scars.

• Brittle Cornea Syndrome

Characterized by thin cornea, early onset progressive keratoglobus; and blue sclerae.

• Classical-like EDS

Characterized by velvety skin with hyperextensibility. The skin also bruises easily and can have spontaneous discolorations due to bleeding underneath (ecchymoses). Atrophic scarring is absent. There is generalized joint hypermobility with or without recurrent dislocations.

• Spondylodysplastic EDS

Characterized by short stature, muscle hypotonia, and bowing of limbs.

• Musculocontractural EDS

Characterized by congenital permanent shortening of the muscles or joints that lead to loss of flexibility or movement in those areas (contractures). The skin is also hyperextensible, bruises easily, fragile, prone to atrophic scars, and has palmar wrinkling.

• Myopathic EDS

Characterized by congenital muscle hypotonia, and/or muscle atrophy. However, these improve with age. Joints such as the knees, hip, and elbow can have contractures whereas joints such as the ankles, wrists, feet, and hands are hypermobile.

• Periodontal EDS

Characterized by inflammation of the gums and other supporting structures of the teeth (periodontitis) that occurs in childhood or adolescence. There is also lack of attached gingiva and pretibial plaques.

• Cardiac-valvular EDS

Characterized by severe progressive cardiac-valvular problems (aortic valve, mitral valve), skin problems (hyperextensibility, atrophic scars, thin skin, easy bruising) and joint hypermobility (generalized or restricted to small joints).

(Genetic and Rare Diseases Information Center)

Ehlers-Danlos Syndromes Sleep Problems

2. A study on Ehlers-Danlos Syndromes statistics show that 97% of people with EDS snore and breathe through their mouth while sleeping.

EDS features as well as defects in the cartilage and abnormalities in the skull and facial structures can cause the structures around the pharynx to collapse and lead to obstructive sleep apnea.

(Science Direct)

3. A study found that among a sample of EDS patients, 64% had hypopneas, while the remaining 36% had apneas.

Hypopneas are less severe than apneas. Hypopneas are abnormally slow or shallow breathing, while apneas are periods of no breathing. During episodes of hypopnea, breathing is reduced by 50% or more for around 10 seconds. Another study found that more than 14% of children with EDS also have obstructive sleep apnea.

(Thomas Gaisl, MD), (Medical News Today), (Keren Armoni Domany, MD)

4. Ehlers-Danlos Syndromes statistics show that 31% of EDS patients can have daytime sleepiness.

These EDS patients with daytime sleepiness can have an Epworth Sleepiness Scale (ESS) score greater than 10. On the other hand, about 11% of EDS patients can have an ESS score greater than 15, which is a sign of severe daytime sleepiness. The Epworth Sleepiness Scale (ESS) is a test that can assess the daytime sleepiness in people. The higher the ESS score, the “sleepier” the person. Another study found that EDS patients with obstructive sleep apnea can have an EES score of nearly 15.

(Thomas Gaisl, MD), (The Epworth SLeepiness Scale), (C. Moss, MD)

5.  A study found that more than 11% of children with EDS can also have periodic limb movement disorder (PLMD).

EDS patients younger than 18 years with PLMD would have more than 5 periodic limb movements per hour of sleep. Another study found that 67% of EDS patients also severe periodic limb movements.

(Keren Armoni Domany, MD), (Dr. Johan Verbraecken)

6. Ehlers-Danlos Syndromes statistics show that more than 60% of patients have poor sleep quality.

The physical abnormalities that EDS can come with also results in sleep problems like sleep apnea that lower the sleep quality of patients.

(C. Moss, MD)

7. About 68% of patients with EDS report waking up tired regardless of sleep duration.

Persistent or chronic fatigue is a feature of EDS and contributes to poor health-related quality of life. Thus, adequate sleep may not be enough to make EDS patients feel rested. Health professionals can only suggest ways to manage the fatigue.

(C. Moss, MD), (Dr. Alan Hakim)

8. Daytime fatigue can be present in as many as 45% of EDS patients.

Fatigue is a common and important symptom in EDS. Fatigue in EDS can have several reasons such as poor sleep quality, chronic pain, poor physical activity, orthostatic intolerance, cardiovascular, bowel dysfunction, poor mood (such as anxiety or depression), and headaches or migraines.

(C. Moss, MD), (Dr. Alan Hakim)

9. A study on Ehlers-Danlos Syndromes statistics show that 36% children with EDS are prescribed with melatonin.

The study also found that 18% were recommended with cognitive behavioral therapy. Because of the prevalence of sleep problems, EDS patients are also given medical or behavioral therapy for sleep disorders like insomnia and circadian rhythm sleep disorders.

(Keren Armonni Domany, MD)

10. A study found that more than 57% of children with EDS have sleep-onset insomnia.

The chronic pain that comes with EDS can make it difficult for patients, especially children, to fall asleep. Approximately 20% of the people living with chronic pain report at least one symptom of insomnia and more than 65% of these patients would identify themselves as “poor sleepers”.

(David F. Smith, MD, PhD), (Nicole Tang, PhD)

11. Nearly 46% of children with EDS have frequent nighttime awakenings.

Another study found that 56% of EDS patients have trouble maintaining sleep. The cartilage abnormalities in EDS cases can affect the airway. As a consequence, EDS patients are prone to sleep disordered breathing that can fragment or disrupt sleep and cause frequent awakenings.

(Dr. Johan Verbraecken), (David F. Smith, MD, PhD), (Very Well Health)

12. Nearly 33% of children with EDS have morning headaches.

EDS patients commonly suffer from a variety of headache types. These include headaches due to migraines (long-lasting headaches, usually felt as a pulsing pain on one side of the head), muscle tension, high blood pressure, and other physical conditions.

(Dr. Johan Verbraecken), (The Ehlers-Danlos Society)

13. More than 20% of children with EDS have hypersomnia or narcolepsy.

Narcolepsy is a disorder characterized by excessive daytime sleepiness. Given, that narcolepsy has a general estimated prevalence of less than 1%¹⁸, this high number is concerning for EDS patients, especially with children. The high rate of narcolepsy and hypersomnia may be a consequence of the many sleep disorders that EDS patients have.

(David F. Smith, MD, PhD), (Dr. Paul Peterson)

Conclusion

Ehlers-Danlos Syndromes is a group of rare genetic disorders with no cure. What we can do if you or your loved ones have EDS is help them cope with it. Things like pain medications, light exercise, and physical behavioral therapy can go a long way in making the lives of EDS patients easier.

References

US National Library of Medicine:

https://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome

Domany et al. 2018:

https://jcsm.aasm.org/doi/10.5664/jcsm.7058

Gaisl et al., 2017:

https://thorax.bmj.com/content/72/8/729.short

Moss et al., 2018:

https://academic.oup.com/sleep/article-abstract/41/suppl_1/A343/988973

Genetic and Rare Diseases Information Center:

https://rarediseases.info.nih.gov/diseases/6322/ehlers-danlos-syndromes

Guilleminault et al., 2013:

https://www.sciencedirect.com/science/article/pii/S0012369213607254?via%3Dihub

Medical News Today:

https://www.medicalnewstoday.com/articles/319378

Domany et al., 2018:

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886440/

The Epworth Sleepiness Scale:

https://epworthsleepinessscale.com/about-the-ess/

Verbraecken et al., 2002:

https://onlinelibrary.wiley.com/doi/abs/10.1034/j.1399-0004.2001.600507.x?sid=nlm%3Apubmed

Moss et al., 2018:

https://academic.oup.com/sleep/article-abstract/41/suppl_1/A343/4988973

Hakim et al., 2017:

https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.c.31542

Domany et al., 2017:

https://academic.oup.com/sleep/article-abstract/40/suppl_1/A345/3782375

Smith et al., 2017:

https://academic.oup.com/sleep/article/40/suppl_1/A345/3782374

Tang, 2008:

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4589931/

Very Well Health:

https://www.verywellhealth.com/ehlers-danlos-syndrome-and-sleep-apnea-4129568

Henderson et al., 2017:

https://www.ehlers-danlos.com/2017-eds-classification-non-experts/neurological-spinal-manifestations-ehlers-danlos-syndromes/

Peterson and Husain, 2008:

https://linkinghub.elsevier.com/retrieve/pii/S0387-7604(08)00031-4