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Ehlers-Danlos Syndrome-Classical Type (cEDS)

What is Ehlers-Danlos Syndrome-Classical Type (cEDS)?

There is a collection of rare diseases grouped together as disorders affecting connective tissues known as Ehlers-Danlos syndromes. They are all inherited disorders caused by genetic mutations and can affect the body in various ways depending on the mutation. The most common symptoms associated with this disorder are joint hypermobility (joints are able to stretch further than normal), skin hyperextensibility (skin able to stretch further than normal), and fragile tissues.

There are currently 13 different types of Ehlers-Danlos syndromes (EDS). While there are characteristics of this disorder that are shared across different types, there are also distinctive features that help to classify the diagnosis and lead to genetic testing confirmation. To do this, an individual’s symptoms will be compared to major and minor criteria associated with each EDS type. In the case of classical Ehlers-Danlos syndrome (cEDS), these major criteria are skin hyperextensibility and atrophic scarring, and generalized joint hypermobility (GJH). The nine minor criteria of classical EDS are easy bruising, soft doughy skin, skin fragility or traumatic splitting, fleshy lesions with scars at pressure points (molluscoid pseudotumors), small and hard but mobile growths on forearms and chin (subcutaneous spheroids), hernias, epicanthal folds, complications due to joint hypermobility such as sprains, subluxation, pain, or flexible flat foot, and first degree relatives that meet some or all of these criteria.

Classical Type Ehlers-Danlos syndrome (cEDS) is recognized as one of the more prevalent forms of Ehlers-Danlos syndrome (EDS), a group of heritable connective tissue disorders. Classical EDS is characterized by joint hypermobility, skin that is excessively stretchable, and tissue fragility, leading to scars and significant bruising. It results from defects in collagen that impair the structural integrity of connective tissues throughout the body.

 

Synonyms

  • EDS type I/II (older classification)
  • Gravis type EDS (type I)
  • Mitis type EDS (type II)

There is a collection of rare diseases grouped together as disorders affecting connective tissues known as Ehlers-Danlos syndromes. They are all inherited disorders caused by genetic mutations and can affect the body in various ways depending on the mutation. The most common symptoms associated with this disorder are joint hypermobility (joints are able to stretch further than normal), skin hyperextensibility (skin able to stretch further than normal), and fragile tissues.

There are currently 13 different types of Ehlers-Danlos syndromes (EDS). While there are characteristics of this disorder that are shared across different types, there are also distinctive features that help to classify the diagnosis and lead to genetic testing confirmation. To do this, an individual’s symptoms will be compared to major and minor criteria associated with each EDS type. In the case of classical Ehlers-Danlos syndrome (cEDS), these major criteria are skin hyperextensibility and atrophic scarring, and generalized joint hypermobility (GJH). The nine minor criteria of classical EDS are easy bruising, soft doughy skin, skin fragility or traumatic splitting, fleshy lesions with scars at pressure points (molluscoid pseudotumors), small and hard but mobile growths on forearms and chin (subcutaneous spheroids), hernias, epicanthal folds, complications due to joint hypermobility such as sprains, subluxation, pain, or flexible flat foot, and first degree relatives that meet some or all of these criteria.

Classical Type Ehlers-Danlos syndrome (cEDS) is recognized as one of the more prevalent forms of Ehlers-Danlos syndrome (EDS), a group of heritable connective tissue disorders. Classical EDS is characterized by joint hypermobility, skin that is excessively stretchable, and tissue fragility, leading to scars and significant bruising. It results from defects in collagen that impair the structural integrity of connective tissues throughout the body.

Acknowledgement of Ehlers-Danlos Syndrome-Classical Type (cEDS) has not been added yet.

The prevalence of Classical Ehlers-Danlos syndrome is estimated to be roughly 1 in 20,000 to 1 in 40,000 individuals worldwide. All types of EDS combined have a prevalence of 1 in 5,000 to 1 in 20,000.

Name Abbreviation
EDS type I/II (older classification)
Gravis type EDS (type I)
Mitis type EDS (type II)

The primary genetic cause of Classical Ehlers-Danlos are mutations affecting the COL5A1 and COL5A2 genes that provide instructions for producing the α1- and α2-chains of type V collagen, a protein crucial for the structural integrity of connective tissues. It is estimated that mutations in the COL5A1 gene are present in approximately 75% of individuals with clinically confirmed cEDS, while mutations in the COL5A2 gene are found in about 14% of cases. In a smaller percentage of individuals, around 1%, a cEDS phenotype can result from specific mutations in the COL1A1 gene, which encodes type I collagen. The majority of mutations identified in the COL5A1 and COL5A2 genes cause a premature termination of protein synthesis or structural alterations that result in a deficiency in normal type V collagen in the body. These mutations are inherited in an autosomal dominant pattern (see RareShare Guide on Genetic Inheritance), meaning that inheritance of a mutated gene from one parent is sufficient to produce the disease.

 

Key clinical features of cEDS include:

Skin Manifestations:

  • Hyperextensible skin (stretches easily and returns slowly), soft, and velvety texture

  • Atrophic scars (wide, paper-this scars), especially over pressure areas

  • Easy bruising

  • Delayed wound healing

Joint Manifestations:

  • Generalized joint hypermobility

  • Frequent joint dislocations and subluxations (partial dislocation)

  • Chronic joint pain

  • Muscle hypotonia (low muscle tone) and delayed motor milestones in infancy

  • Early-onset osteoarthritis

Other features:

  • Hernias (umbilical, inguinal)

  • Rectal prolapse (positional displacement)

  • Molluscoid pseudotumors (fleshy lesions over scars or pressure areas)

  • Subcutaneous spheroids (hard, movable lumps under skin)

  • Mitral valve prolapse (less common, mitral valve in heart fails to close properly)

Individuals with EDS may have fragile skin, which can lead to being prone to cuts, bruises, scarring on the knees, elbows, shins, forehead, and chin (common sites of scrapes during childhood). This can also make healing after surgery difficult as cuts tend to remain widened. In early childhood, skin fragility and muscular hypotonia may occur, which can delay motor development milestones. Fragile tissues of the organs may increase risk of complications such as hernias, or a prolapsed pregnancy or cervical insufficiency for people who are pregnant. 

Joint hypermobility can increase a person’s chance of dislocations or subluxations, and may also be associated with chronic joint pain.

 

According to the 2017 International Classification of EDS, a diagnosis of cEDS requires the presence of either both major criteria, or major criterion 1 along with three or more of the minor criteria.

Major criteria:

  1. Skin hyperextensibility with atrophic scarring

  2. Generalized joint hypermobility

Minor criteria (supportive but not required for diagnosis):

  • Easy bruising

  • Soft, doughy skin

  • Molluscoid pseudotumors

  • Subcutaneous spheroids

  • Hernias

  • Epicanthal folds in eyelids

  • Complications of joint hypermobility

  • Family history of a first-degree relative meeting clinical criteria

Other testing:

  • Molecular testing for pathogenic variants in COL5A1, COL5A2 or COL1A1 genes is recommended to confirm a diagnosis

  • Skin biopsy (electron microscopy may show disorganized collagen fibrils, but is rarely performed today)

 

An official diagnosis of Ehlers-Danlos syndrome may require a genetic screen to determine if a mutation of a collagen gene is present, but there are other measures for evaluating an individual for potential EDS diagnoses. 

  1. Skin hyperextensibility is measured against a scale of normal skin elasticity, and is considered hyperextensible when it can be stretched over 1.5cm in the forearms and hands, over 3cm in the neck, elbow, and knees, and over 1cm on the palm of the hand. 

  2. Joint hypermobility is measured against a scale known as the Beighton score, where a score of over 5 is considered positive for generalized joint hypermobility (GJH); this is also evaluated on the basis of age as joints decrease in mobility with age

  3. Skin biopsy is an examination of a small piece of affected tissue under a microscope to confirm the presence of collagen flowers, an abnormal structure of collagen fibres that indicates EDS.

There is no cure for cEDS. Disease management is symptomatic and preventive, involving a multidisciplinary approach.

  • Dermatologic care:

    • Gentle wound care

    • Avoiding unnecessary surgery

    • Scar management

  • Joint care:

    • Physical therapy for stabilization and proprioception

    • Bracing/splints as needed

    • Avoiding high-impact sports

  • Pain management:

    • NSAIDs, physical therapy

    • Multimodal pain management approaches

  • Monitoring:

    • Periodic cardiovascular assessment (echocardiogram)

    • Genetic counseling for families

Most treatments for Ehlers-Danlos syndrome are given based on the symptoms an individual may experience. One of the most crucial treatments occurs after injury, when the skin is less likely to heal with normal elasticity. Individuals with EDS should receive quick and precise treatment to open wounds to prevent reopening or scarring. This can involve receiving care to close the wound as soon as possible, and in some cases seeking a plastic surgeon to close wounds. Stitches may need to remain in place for longer than normal skin conditions, and other types of bandages to support this tissue type can be applied (steri-strips and tubular bandages).

The general prognosis for cEDS is good, with a normal life expectancy for most affected individuals. The quality of life may be impacted by joint pain, dislocations and skin fragility. Risks include chronic pain and progressive deterioration of joint function with age. With supportive care and precautions, many individuals can lead functional and productive lives.

Many individuals with EDS have few complications associated with this rare disease, and other than skin abnormalities and joint hypermobility, may live relatively unaffected lives. However, it is common for individuals with EDS to be misdiagnosed with Munchausen’s syndrome, in which the individual effectively makes up their symptoms. EDS is a real rare disease with its own associated symptoms and complications and should be treated as such.

People with the COL1A1 mutation may be at an increased risk of vascular complications and should receive regular monitoring of their heart health. 

Tips or Suggestions of Ehlers-Danlos Syndrome-Classical Type (cEDS) has not been added yet.
  1. https://www.healthing.ca/wellness/what-is-ehler-danlos-the-disease-jameela-jamil-claims-to-have

  2. https://www.ehlers-danlos.org/information/classical-ehlers-danlos-syndrome/

  3. https://www.nhs.uk/conditions/ehlers-danlos-syndromes/

  4. https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=287 

  5. https://franklincardiovascular.com/classical-ehlers-danlos-syndrome/

  6. https://medlineplus.gov/genetics/condition/ehlers-danlos-syndrome/

  7. Malfait, F., Francomano, C., Byers, P., et al. (2017). “The 2017 International Classification of the Ehlers–Danlos Syndromes.” American Journal of Medical Genetics Part C, 175C(1), 8–26. https://doi.org/10.1002/ajmg.c.31552.

  8. Bowen, J. M., Sobey, G. J., Burrows, N. P., et al. (2017). “Ehlers–Danlos syndrome, classical type.” Orphanet Journal of Rare Diseases, 12, 1–20. https://doi.org/10.1186/s13023-017-0680-3.

  9. The Ehlers-Danlos Society: What is EDS?

  10. Orphanet: Classical Ehlers-Danlos syndrome.

     

2021 EDS Cognition study recruitment Created by eds-cognition_greg
Last updated 30 May 2021, 06:35 PM

corrective shoulder surgery Created by supermotleycruefan
Last updated 6 Apr 2009, 06:34 AM

Posted by supermotleycruefan
6 Apr 2009, 06:30 AM

I'm still on he waiting list for surgery. No one has responded to my questions about corrective shoulder surgery. I just want to know if it's waste of time. My surgeon, Dr, Scott Mandel in hamilton, ON said that there are no guarantees that it would improve my pain & function, or how long any improvement would be. That's why I'm curious as to what other people have experienced with he surgery-the good. the bad & the ugly. So please if you've had corrective shoulder surgery write me a note telling me about the out come. I know it's different for every one but to simply have an idea would be nice, Also I'm curious to know how many people have lost their teeth early in life because of EDS. I read that it is a rare side effect of the condition. About a month ago i had to have all but 2 of my teeth taken out. The molars had all broken off & it was starting in the front so I decided now was the time to take care of it since I had the money. I'd be interested to know how many other people with EDS have had problems with their teeth. Please get back to me. Thank you :)

Posted by supermotleycruefan
2 Feb 2009, 01:16 AM

I'm on the waiting list for corrective shoulder surgery & I would like to hear from others who have had this done. Did it work out? How long was the recovery period? I know that everyone heals differently but I just want a basic idea. Thanks, nancy henrech :)

The not so obvious Created by adenardi
Last updated 6 Apr 2009, 06:13 AM

Posted by supermotleycruefan
6 Apr 2009, 06:13 AM

I have type 3 EDS & I seem to be tired all the time but i put it down to the pain wearing me out, I've never investigated it with a doctor. It would be interesting to dee if more people with EDS have chronic fatigue problems as well.

Posted by SeaHunt
10 Feb 2009, 07:37 PM

Adenardi: Do you also have a related bleeding disorder? Fatigue had been a big challenge for me, w EDS 3, but I also had a related disorder--we haven't confirmed but it may be von Willebrand's. Iron levels were way too low and correcting that helped immensely with the fatigue. With lousy collagen, it can be hard to form clots which proves to be a big problem for many women w EDS. So you don't have to have EDS IV to land up w bleeding issues. If it is not a bleeding related fatigue, I think you will still find that there are many folk out there w EDS who do have fatigue as well as significant unexplained pain.

Posted by jfrcharruadas
20 Jan 2009, 02:03 PM

Hi I have a soft type of EDS and don't feel fatigue. Are you sure it is due to EDS? J

View Full Thread (1 more posts)
Positive Course with Adult Stem Cells Created by skinny13
Last updated 16 Mar 2009, 06:02 AM

Posted by skinny13
16 Mar 2009, 06:02 AM

In Growth, Genetics and Hormones, positive results have been indicated with adult stem cell therapy course of action. http://www.gghjournal.com/volume21/3/pdf/ab02.pdf An alternative to the invasive course is using AFA, a natural botanical, which when delivered in a contrate form, will release 25% more adult stem cells from bone marrow which adds up to 2-5 million more cells to help you heal yourself. Maureen

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2021 EDS Cognition study recruitment

Created by eds-cognition_greg | Last updated 30 May 2021, 06:35 PM

corrective shoulder surgery

Created by supermotleycruefan | Last updated 6 Apr 2009, 06:34 AM

The not so obvious

Created by adenardi | Last updated 6 Apr 2009, 06:13 AM

Positive Course with Adult Stem Cells

Created by skinny13 | Last updated 16 Mar 2009, 06:02 AM


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