Fransiska Malfait - The Rarest Types of EDS

The Ehlers-Danlos syndromes comprise a clinically and genetically heterogeneous group of heritable connective tissue disorders, which are characterized by joint hypermobility, skin hyperextensibility, and tissue friability. The 2017 International EDS Classification recognizes 13 EDS subtypes, for which defects have been identified in 19 different genes that code for extracellular matrix proteins. Some of these conditions are very rare; these are usually very complex and multisystemic conditions. During this webinar, the clinical presentation and (molecular) diagnosis of these rarest EDS subtypes is discussed and illustrated, and management tips are discussed.

[@nisaba5752]

Thank you, I'm going to share this with my doctor. Some primary care doctors think there are only 2 types, lol!
This is very appreciated!

[@rethinkeverything2982]

Thank you so much for devoting so much time into this! Your research is appreciated

[@Stumpyfoot]

I have Kyphoscoliosis and Pectus Carinatum. I strongly believe I have kEDS. No formal diagnosis yet. Previous geneticist visits resulted in shoulder shrugging and the most recent, I was sent do pediatric geneticist but because I am an adult they thought I was waiting for someone even though I had an appointment.

[@shannongreenwell1278]

My mom and many other people in my family have Osteogenesis Imperfecta and I have Classical EDS, which shares the same genetic mutation with O.I. , my young niece has EDS, too.

[@leanneschnerch9143]

Have any studies with the use of medium chain fatty acids been carried out?

[@TheEhlersDanlosSociety]

Please contact our helpline who can advise further on research that has been carried out in this area ehlers-danlos.com/eds-helpline

[@BlueBirdsSong]

Please I need help. I have Vascular Ehlers - Danlos Syndrome. I also have severe Hyper-Mobility. I have 2 Brain Aneurysm’s and they found another behind my heart, I was told the walls were very thin. I could go on and on with things that I have Heart Disease, and as you mentioned I have had 3 Spontaneous Lung Collapses and Crohn’s disease, 3 Strokes. So so much more. No one will help me, my question is, is the Aneurism behind my heart fatal, am I just a ticking time bomb? I don’t know what to do . Thank you so much.

[@TheEhlersDanlosSociety]

Hi. I'm sorry for your difficulties. Please get in touch with our helpline, www.ehlers-danlos.com/eds-helpline/ and you might be interested in joining our monthly vEDS group, www.ehlers-danlos.com/virtual-support/#1587724164453-7a154ff1-6759. I hope you can find answers!

[@smilingeyes384]

My late husband's family had very prevalent hypermobility. They identify themselves as family members by pulling back their thumbs. He was born with bilateral hip dysplasia, and so was my daughter. But it was my son who was dx with EDS at age eleven. He does not have bilateral hip dysplasia, however. My daughter ran a commercial full genome DNA at age 40. AEDS was identified. We know she has MS and mitral valve prolapse. Geneticists do not practice in our city. Rheumatologists just say there is nothing more to be done for her than she is already doing on her own. Is there any advantage in pursuing this further?

[@AuthorMorganLee]

What if I didn’t have congenital hip dislocation? Could I still have aEDS?

[@TheEhlersDanlosSociety]

Hi Morgan, please reach out to our helpline who can talk through the diagnostic criteria for aEDS with you ehlers-danlos.com/eds-helpline

[@autistictips1161]

I'm looking for more information on Myopathic EDS, or COL12A1 mutations in general.
My husband has VEDS (COL3A1) and also a VUS on COL12A1. I believe it affects him because he has muscle weakness and is in a wheelchair whereas his VEDS peers walk and are active. My husband is younger than they are by at least 10 years (most of them are in their 30s and 40s and found out about their VEDS through a vascular event) but he can hardly stand at 24. So I think the COL12A1 is affecting him.

[@autistictips1161]

Also in case anyone is similar and wants more information, he was always small and less able than his peers, but he was walking and running fine until he was 18 and suddenly needed walkers, canes, crutches, and ultimately a wheelchair.

[@TheEhlersDanlosSociety]

Please contact our helpline who can advise further ehlers-danlos.com/eds-helpline

[@elianabrisetti6279]

Hi, I have eds ex 7c dermatosparaxis. I'm writing from Rome...

[@leanneschnerch9143]

Hss gene therapy been attempted?

[@huekanosedot]

I don't believe we have any concept of gene therapy that could possibly help, as of now. Gene therapy is new and expensive science. Don't rule it out in the future, but I wouldn't expect it super soon (: