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Genetics (Expert Forum)
Genetician consultation to diagnose EDS type III?
Answered by
Lisa Kessler, MS, CGC - Hereditary Disorders, hemochromatosis, Patient Outreach
DNA Direct
This forum is for questions and support regarding Genetics.
This forum is for questions and support regarding a person’s predisposition to a variety of medical conditions such as Alzheimer’s Disease, Blood-clotting Disorders, Breast Cancer, Cystic Fibrosis, Diabetes, Marfan Syndrome, Ehlers-Danlos Syndrome, etc.
Genetician consultation to diagnose EDS type III?
by anniedan, May 27, 2008 08:16PM
Is it true you can't have a genetic test for EDS type III (hypermobility type)?
And if it's true, could a genetician still give the diagnosis?
My rheumatologist, which I see because of my CFS (NeuroEndocrineImmune Dysfunction Syndrome, more suitable name, really!) discards all my joint troubles (even those my physiatrist treats) because he puts all I have in a "CFS/FM" basket. Even though he checked me for FM and told me I didn't have it.
My physiatrist is the one who gave me the "ligamenteous hyperlaxity" diagnosis officially.
I asked him about EDS type III. He said he didn't know much about it, but agreed it was "possible". But he said something like "but I think theres no way of diagnosing it officially, and what good would it do you to have that diagnosis?" Of course I wouldn't get better treatments, but it could help with recognition and other types of help.
I'm sure EDS type III is what I have, I've done lots of research, already have hypermobility diagnosis and fit the diagnosis criteria. Also, the more I look into it and learn about it, the more I see family history, altough no one has had as much trouble/injuries as I have, luckily for them!
If there could be a test done, I would ask for a genetician consultation the next time I see my GP. But if theres nothing to do, I don't think my GP would feel knowledgeable enough on the subject to give me the diagnosis, and if neither a physiatrist nor a rheumatologist are, who would?
Thank you very much!!!
And if it's true, could a genetician still give the diagnosis?
My rheumatologist, which I see because of my CFS (NeuroEndocrineImmune Dysfunction Syndrome, more suitable name, really!) discards all my joint troubles (even those my physiatrist treats) because he puts all I have in a "CFS/FM" basket. Even though he checked me for FM and told me I didn't have it.
My physiatrist is the one who gave me the "ligamenteous hyperlaxity" diagnosis officially.
I asked him about EDS type III. He said he didn't know much about it, but agreed it was "possible". But he said something like "but I think theres no way of diagnosing it officially, and what good would it do you to have that diagnosis?" Of course I wouldn't get better treatments, but it could help with recognition and other types of help.
I'm sure EDS type III is what I have, I've done lots of research, already have hypermobility diagnosis and fit the diagnosis criteria. Also, the more I look into it and learn about it, the more I see family history, altough no one has had as much trouble/injuries as I have, luckily for them!
If there could be a test done, I would ask for a genetician consultation the next time I see my GP. But if theres nothing to do, I don't think my GP would feel knowledgeable enough on the subject to give me the diagnosis, and if neither a physiatrist nor a rheumatologist are, who would?
Thank you very much!!!
Doctor's Answer
by Lisa Kessler, MS, CGC, Jun 02, 2008 09:33AM
, Jun 02, 2008 09:33AM
Given the concerns that you have raised about your features, you may benefit from seeing a geneticist regarding EDS. A geneticist can do a thorough exam, and review family history information in order to make a diagnosis of EDS. You are correct that there is not a genetic test clinically available to make this diagnosis.
As you know, Ehler-Danlos syndrome (EDS) is a group of disorders that affect the connective tissue. There are many different types of EDS including Hypermobility (also called type III), Classical, and Vascular. They are each distinct conditions, but there can be some overlap with features such as stretchy skin, hypermobile joints, bruising, and trouble with wound healing. Most types of EDS run in families in an autosomal dominant way. If a parent has EDS, there is a 50% chance of passing the condition on with each child she has. Best wishes to you.
As you know, Ehler-Danlos syndrome (EDS) is a group of disorders that affect the connective tissue. There are many different types of EDS including Hypermobility (also called type III), Classical, and Vascular. They are each distinct conditions, but there can be some overlap with features such as stretchy skin, hypermobile joints, bruising, and trouble with wound healing. Most types of EDS run in families in an autosomal dominant way. If a parent has EDS, there is a 50% chance of passing the condition on with each child she has. Best wishes to you.
Member Comments (2)
by tragdysangel, Jun 04, 2008 07:14PM
To: lisa kessler md cgc
With EDS do you have broken blood vessels that are visible through the skin like around the nose ?
