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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.

 

 

Synonyms

  • Classical EDS

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.

 

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

Ehlers-Danlos syndrome is a rare disease, the classical type is only diagnosed in about 1 in 20,000 individuals. Across all types of EDS, about 1 in 5,000 individuals receive a diagnosis.

Name Abbreviation
Classical EDS cEDS

Classical EDS is caused by a mutation in a gene that encodes a protein called collagen, which provides structure to the skin and other connective tissues. Collagen also provides extracellular structure for tissues and organs. When the collagen  gene is mutated, it causes a lack or lower amounts of this protein in the body, leading to less connective tissue development. Most cases of EDS are due to a mutation in the genes COL5A1 or COL5A2 which affect the protein type V collagen. Some rare cases are caused by a mutation in the COL1A1 gene which affects the protein type 1 collagen. 

These genetic mutations are autosomal dominant in nature. Human genes are located on condensed sequences of DNA known as chromosomes. Every person has 23 pairs of chromosomes, one inherited from each parent. Different genes can be located on one or more chromosomes, and every cell nucleus contains every chromosome. Normal gene inheritance patterns stem from the inheritance of one chromosome from each parent. If a gene is abnormally short, long, or has other mutations that change the DNA code, it will change proteins  that the cell needs to function properly. In autosomal dominant inherited disorders, a mutated gene need only be on one chromosome to have an effect on the offspring. This can be inherited from only one parent if they carry the mutated gene.

The symptoms of classical Ehlers-Danlos syndrome include the major and minor criteria used to diagnose the disease before an official genetic test. These symptoms are: 

Major diagnostic criteria: 

  1. Skin hyperextensibility

  2. Atrophic scarring 

  3. Generalized joint hypermobility (GJH) 

Minor diagnostic criteria 

  1. Easy bruising 

  2. Soft, doughy skin 

  3. Molluscoid pseudotumors 

  4. Subcutaneous spheroids 

  5. Hernia 

  6. Epicanthal folds 

  7. Complications of joint hypermobility

  8. Family history of a first-degree relative

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.

 

A final diagnosis of Ehlers-Danlos syndrome requires the individual to present with certain criteria, the major two being skin hyperextensibility and atrophic scarring, and generalized joint hypermobility (GJH). There are also nine other minor criteria that may point towards a EDS clinical diagnosis. If an individual case presents with the two major criteria, or one of the major criteria and at least 3 minor criteria, their diagnosis can then be reviewed with genetic testing. Molecular testing for the presence of an affected gene mutation associated with the disordered criteria is required for EDS confirmation.

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.

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).

Many individuals with EDS have few complications associated with the 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.

Some individuals with EDS who experience injury to the skin should receive adequate care after damage to prevent scarring, and to properly repair the tissue after surgery. 

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.
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

Community External News Link
Title Date Link
Ehlers-Danlos Syndrome: Madera boy with rare disease using YouTube to raise awareness 09/06/2018
Life for a child with a rare disease is a grueling roller coaster ride: A mother explains 03/06/2019
I ran from my lethal diagnosis for years. Let's make this rare disease a household word. 10/11/2020
Doctor Who Devised a Treatment for Her Rare, Painful Disease Started Clinic to Help Others 03/27/2022
Woman with rare illness that's seen her dislocate 'hundreds' of bones can't afford to stay at university 04/02/2022
Millions have the same ‘bendy body’ disease as my daughter. Why isn’t the medical profession paying more attention? 12/30/2022
Jameela Jamil discusses experience with Ehlers-Danlos syndrome on TikTok 12/30/2022
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Clinical Trials


Cords registry

CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.

Enrolling is easy.

  1. Complete the screening form.
  2. Review the informed consent.
  3. Answer the permission and data sharing questions.

After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.

Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.

Visit sanfordresearch.org/CoRDS to enroll.

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I gladly volunteer to raise awareness for Ehlers-Danlos Syndrome.

 

Neither patients nor physicians fully understand the complexities of Ehlers-Danlos Syndrome (EDS). EDS is a genetic...
I'm a 28 years old computer systems engineer from Portugal.

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Discussion Forum

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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