Ehlers-Danlos Syndrome from MedlinePlus.gov

Ehlers-Danlos Syndrome from MedlinePlus.gov – a trusted site of the NIH with factual information (scientific and rarely wrong, not commercial, promotional, or fake)

Ehlers-Danlos syndrome (EDS) is a group of inherited disorders that weaken connective tissues. Connective tissues are proteins that support skin, bones, blood vessels, and other organs.

This means that EDS can affect almost any function of your body.

EDS usually affects your skin, joints and blood vessel walls.

Symptoms include

  • Loose joints
  • Fragile, small blood vessels
  • Abnormal scar formation and wound healing
  • Soft, velvety, stretchy skin that bruises easily

There are several types of EDS. They can range from mild to life-threatening. About 1 in 5,000 people has EDS.

There is no cure.

Treatment involves managing symptoms, often with medicines and physical therapy. It also includes learning how to protect your joints and prevent injuries.

Collagen types associated with Ehlers-Danlos:

Colagen Type I

  • This is the most abundant collagen of the human body. It is present in scar tissue, the end product when tissue heals by repair. It is found in tendons, skin, artery walls, cornea, the endomysium surrounding muscle fibers, fibrocartilage, and the organic part of bones and teeth.
  • Gene(s): COL1A1, COL1A2
  • Disorders: Osteogenesis imperfecta, Ehlers–Danlos syndrome, Infantile cortical hyperostosis a.k.a. Caffey’s disease

Colagen Type III

  • This is the collagen of granulation tissue, and is produced quickly by young fibroblasts before the tougher type I collagen is synthesized. Reticular fiber. Also found in artery walls, skin, intestines and the uterus
  • Gene(s): COL3A1
  • Disorders: Ehlers–Danlos syndrome, Dupuytren’s contracture

Colagen Type V

  • Most interstitial tissue, assoc. with type I, associated with placenta
  • Gene(s):COL5A1, COL5A2, COL5A3
  • Disorders: Ehlers–Danlos syndrome (Classical)

Resources

Genetics

Clinical Trials

Journal Articles

References and abstracts from MEDLINE/PubMed (National Library of Medicine)

 

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8 thoughts on “Ehlers-Danlos Syndrome from MedlinePlus.gov

          1. Rasmus

            I thought I had classical and it turned out I have a Tenascin X mutation, with the limited knowledge there is out there, I value even knowing for certain that there’s not more to know, hard to explain… To me it was worth chasing.

            Liked by 1 person

            Reply
            1. Zyp Czyk Post author

              I have the typical hypermobility problems so I’m pretty sure I only have type III. If I have classical, it would only mean i might die from an aneurism. At 60, my good years are behind me and I’m just facing a miserable decline into increasing pain and fatigue, so a quick unexpected death would actually be a great escape. I can only hope…

              Like

  1. Emily Raven

    I wish doctors recognized there’s crossover. No, I haven’t had an aortic dissection amd my joints dislocate but that doesn’t mean that my veins aren’t fragile and crap. Collagen is everywhere in your body, even your teeth.

    Ugh. Sorry. I like reading stuff like this but I can’t fathom why doctors can’t find this information.

    Liked by 1 person

    Reply
    1. Zyp Czyk Post author

      You’re right – good info on EDS is now readily available and makes clear that virtually all body systems can be affected by our defective collagen. When I was looking in the late 90’s, all I could find was the association between EDS and DISlocated joints. 10 years later I found enough info to diagnose myself with EDS and then have a geneticist verify it.

      I’m still caught by surprise when yet another strange new pain appears that can be traced back to my crappy collagen. Everything that isn’t liquid in our bodies is structured by some kind of connective tissue.

      Liked by 1 person

      Reply

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