It’s a complicated trio MJ that’s for sure EDS, Scleroderma, Raynauds. The first two can cause dysautonomia or POTS which dilate vessels more than they should, vessels are lax anyway due to the abnormalities of EDS. Yet Raynauds constricts causing the colour changes. It is certainly not a straight forward process. If I am upright for say a few minutes my hands become red and mottled (pooling) yet my hands remain cold. I don’t get the blue fingers though.
Other than skin thickening do you get any other features of CREST? Calcium deposits, oesophageal problems, tightness in hands? I guess when you contact the rheumatologist they will do some specific blood tests, not sure if you had them before? Fingers crossed it would be the limited type if you had it. All the autoimmune diseases are pretty horrid. What about dermatomyositis? You can get red thickened patches on the hand with that?
I became unwell about 4 months ago, quite suddenly really, though signs were there before. Lots of symptoms. Due to swallowing issues and nausea I lost a lot of weight through jan/feb. Initially I thought the weight loss was causing me to have stretchy skin, and to have developed a turkey neck! I mean I am not massively stretchy like some with EDS you see, but enough to make me wonder. In view of my continued symptoms, POTS, I’m searching for the reason why. Is it autoimmune, or EDS, or both, or something else like ME/CFS. I have had an MRI of the brain 2 months ago, yes I was poorly enough for the GP to refer me, and although it was reported as normal there are some subtle changes that fits in with Dr Diana’s theories. It’s getting a professional to agree with me now that I am back in the UK, that is going to be a challenge!
No, I have not seen a geneticist yet regarding the EDS. Its something I will be looking into. Do you have a family history of EDS? It seems to be obvious in some families the genetic link, not so much so in others. I know they look at family members as part of the clinical assessment. As far as I am aware nobody has it in my immediate family. It is possible for it to be passed by a parent without them having the disease I think. It’s inherited in a dominant fashion though. Trouble is if I had a negative result, no family history, a diagnosis is unlikely, even with stretchy skin!
Are you in the UK?