Q. How is Ehlers-danlos syndrome diagnosed?

Answered by
Dr. Anshul Varshney
and medically reviewed by Dr. Vinodhini. J
This is a premium question & answer published on Jan 23, 2020 and last reviewed on: Jan 27, 2020

Hello doctor,

So frustrating, so a geneticist made a statement that I might have a mild form of hypermobility EDS. So I went to a rheumy who told me my Brighton score was 9/9 and that he knows I have hypermobility syndrome and would have to see a geneticist to see about the possibility of a mild form of EDS. It is like I just came from there all I know is I have joint pain, clicking, and back pain. In my white smooth skin, you can see most veins. I have such bad stretch marks he even questions saying you just had one baby? My hair is thin and falls out. I have a sensitive tummy and get on and off chest pain. I have a skin condition with little red dots everywhere as well as hay fever and cat allergies. I know I have not had any dislocation but I have had a couple sprained wrist and ankles. As well as a few times my knees gave out. It would be lovely if I just got somewhere with my DX as my pains get worst with age and I am only 21 this year.

#

Hi,

Welcome to icliniq.com.

Joint hypermobility can be due to Ehlers-Danlos syndrome, which is characterized by weakness of the connective tissues of the body. It is also seen in Down syndrome and in people with Marfan's syndrome.

I do not find a picture of Marfan syndrome seeing your images. (attachment removed to protect patient identity). However, the fact is that it is very rare to get a classical picture of any syndrome. Usually, we get the mixed picture. There is no point in finding your problem this way through photographs and reading about the disease on the internet.

I would advise you to get the following investigations:

1. Genetic karyotyping

2. Echo

3. Thyroid Profile

4. X-ray of long bones.

These investigations will give an idea of what you actually have. On the basis of available information and attachments, my first diagnosis would be EDS.

I hope this helps.


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