Ehlers-Danlos Syndrome Type 3
What is Ehlers-Danlos Syndrome Type 3?
Ehlers-Danlos Syndrome Type 3 (EDS3) is a rare genetic disorder where collagen in the connective tissues are defective. Inheritance of the disorder follows an autosomal dominant pattern. The specific genetic cause is still unknown. However, a number of affected individuals have a mutation on the TNXB gene. Some common symptoms are joint hypermobility (where joint movement exceeds the expected range ) in the elbows, knees, fingers, or toes, stretchy and elastic skin that bruises easily, and chronic pain in the muscles and bones. Among the group of related disorders categorized as Ehlers-Danlos Syndrome, EDS3 is often defined as the least severe form.
Ehlers-Danlos Syndrome Type 3 (EDS3) is a rare genetic disorder where collagen in the connective tissues are defective. Inheritance of the disorder follows an autosomal dominant pattern. The specific genetic cause is still unknown. However, a number of affected individuals have a mutation on the TNXB gene. Some common symptoms are joint hypermobility (where joint movement exceeds the expected range ) in the elbows, knees, fingers, or toes, stretchy and elastic skin that bruises easily, and chronic pain in the muscles and bones. Among the group of related disorders categorized as Ehlers-Danlos Syndrome, EDS3 is often defined as the least severe form.
The estimated prevalence of EDS3 worldwide is 1 in 5,000 to 20,000 people. However, the prevalence of all EDS types are at least 1 in 5,000. EDS3 is the most common type. Other types of EDS are more rare, with an incidence of 1 in 40,000.
EDS3 is an inherited genetic condition. The exact cause is unknown. In a small percentage of cases, a mutation on the TNXB gene is observed. Mutations on the TNXB gene leads to a reduced level of protein tenascin-X. This changes the way collagen is deposited, and results in problems with the elastic fibers in the joints. Inheritance of the disease follows an autosomal dominant pattern. This means only one copy of the gene needs to be mutated to cause the disorder in an individual.
Some common symptoms experienced by patients with EDS3 include hyperextensible and soft skin, spontaneous full or partial dislocations that cause chronic pain, degenerative joint disease, bruising, bowel issues, cardiovascular autonomic dysfunction, and psychological issues. Joint hypermobility is more commonly observed in females and young children. Additional symptoms found in EDS include fatigue, functional gastrointestinal disorders, sleep disturbance, anxiety, depression, dysautonomia, and postural orthostatic tachycardia. However, it must be noted that these conditions are non-specific to EDS.
Many of the symptoms of described above are non-specific for EDS3, making it difficult to diagnose EDS3 based on symptoms. Diagnosis of EDS3 requires an evaluation of clinical characteristics and family history. Three of the following criterias specific to EDS3 must be met for diagnosis:
- Generalized joint hypermobility
- Evidence of syndromic features, musculoskeletal complications, and/or family history
- Exclusion of alternative diagnoses
The Beighton score is used to determine joint hypermobility. Scores of 5 or greater defines generalized joint hypermobility. The diagnostic score required is lower (4 or greater) for individuals aged 50+ and higher (6 or greater) for young children.
Disorder treatments vary depending on the symptoms present. Physical therapy can be used to help strengthen muscles and help with joint stability. In some affected individuals with more severe joint instability, braces, wheelchairs, or other assistive devices may be required. Wheelchairs or scooters can help offload the stress on the lower-extremities. Chronic muscle and bone pain may be managed using pain medications. Lastly, counselling can be useful to help with the psychological and pain associated with the disease.
Depending on the severity of the symptoms experienced by the individual, the prognosis of EDS3 can vary. Life-expectancy is not usually affected. However, quality of life can be affected by chronic pain and joint instability. If symptoms are more severe, they can also impact daily function.
If you are searching for medical advice, specialists in EDS3 can be found through support and advocacy groups, or directories such as the EDS Medical Professionals Directory. Some support groups available to aid individuals and families affected by EDS3 such as:
- EDS Awareness
- Ehlers-Danlos Society
- Ehlers-Danlos Support UK
Hypermobile Ehlers-Danlos Syndrome
Howard P Levy, MD, PhD.
Initial Posting: October 22, 2004; Last Revision: June 21, 2018.
https://www.ncbi.nlm.nih.gov/books/NBK1279/
Hypermobility Syndrome (Joint Hypermobility Syndrome)
Medicine Net
Hypermobile Ehlers-Danlos syndrome
National Center for Advancing Translational Sciences
Genetic and Rare Diseases Information Center
https://rarediseases.info.nih.gov/diseases/2081/hypermobile-ehlers-danlos-syndrome
Ehlers-Danlos syndrome, type 3
https://www.ncbi.nlm.nih.gov/gtr/conditions/C0268337/
Last updated 8 Aug 2014, 05:33 PM
8 Aug 2014, 05:33 PM
Hello. That's great you got the diagnosis so young - sometimes people go through years or even decades of incorrect or ambiguous diagnosis. Do you use any other online groups? Here's are some links to "active groups":http://www.pinterest.com/OREDS/forums-support-eds-ehlers-danlos-syndrome/. Lot's of other info linked from the "home page":http://www.pinterest.com/OREDS/ too. What's on your mind today?
21 Jul 2014, 06:00 AM
I have EDS type III with cross over of others. I look forward to discussing daily life with this ever morphing disorder. Each day presents new challenges and learning new ways to adapt so EDS doesn't rule my life. It's very frustrating and hard on my family members to see me in so much pain. Have you read The spoon theory yet? Google it or go to...www.idontlooksick.com I believe. Great articles.
30 May 2014, 03:59 AM
Hey I am Jess I am 23 and I have suspected type 3 and 4 Ehlers Danlos Syndrome. I am looking for other sufferers to chat with and talk about the experiences of this frustrating disorders.
Last updated 19 Feb 2011, 05:15 PM
19 Feb 2011, 05:14 PM
I would like to ask you some questions if you come back to the sight,,my family members have ehlers danlos type symptoms but we are also being evaluated for andersen tawil syndrome another condition related to chromosome 17..You seem to have some of the facial features of andersen tawil
Last updated 29 Sep 2009, 02:21 AM
29 Sep 2009, 02:21 AM
Hello everyone!! How is everyone. No one has started a discussion yet so I thought i would get you guys going and ask how everyone found out about ehlers danlos and perhaps how you were diagnosed,, dont be afraid to post questions and ask for input from others as that is why most of us are here!! kaycee i have aquestion for doux if he comes back!!
Clinical Trials
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.
- Complete the screening form.
- Review the informed consent.
- 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.
Community Leaders
Expert Questions
Ask a question
Community User List
Start a Community
Don't See Your Condition On Rareshare?
Start your own! With a worldwide network of 8,000 users, you won't be the only member of your community for long.
FAQ
Have questions about rareshare?
Visit our Frequently Asked Questions page to find the answers to some of the most commonly asked questions.
Discussion Forum
Hello my follow Zebras
Created by InfernoFire | Last updated 8 Aug 2014, 05:33 PM
Our Communities
Join Rareshare to meet other people that have been touched by rare diseases. Learn, engage, and grow with our communities.
FIND YOUR COMMUNITY
Our Resources
Our rare disease resources include e-books and podcasts
Our Community Leaders
Community leaders are active users that have been touched by the rare disease that they are a part of. Not only are they there to help facilitate conversations and provide new information that is relevant for the group, but they are there for you and to let you know you have a support system on Rareshare.