Lupus like symptoms but not lupus according to rheumatologist

Hi I was back again seeing my rheumatologist. He has ruled out lupus and any kind of autoimmune disease. He now suspects joint hypermobilty and is referring me to a geneticist. Has anyone been through anything similar?

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I think he sounds like a rather good rheumatologist if he’s referred you on to a geneticist. Ehlers Danlos Syndrome can present very like an autoimmune disease and it is a syndrome of hereditary connective tissue diseases.

I’m fairly certain I have it as well as Sjögren’s but unfortunately I’m now too affected by arthritis and have no first degree relatives who are alive with a diagnosis of it as required to meet the diagnostic criteria. People who get diagnosed prior to having another rheumatic disease can get diagnosed much more easily apparently.

I am very hypermobile in my joints and have had organs mysteriously travel a bit too and have stretchy translucent skin and bruise easily. I would certainly love to see a geneticist.

Best of luck with getting it diagnosed and be sure to take as much information about the medical history of your immediate family members as you have access to. X

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Yes he is very good at what he does. I was sceptical at first as some of my symptoms don't fit that. I have severe scoliosis. But I think there's also an underlying autoimmune condition still needing to be diagnosed.

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Well presumably he is still going to monitor you himself and it’s quite possible to have EDS and autoimmune diseases so hopefully you will get some diagnostic clarity now. 😊

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Thank you. I hope so too. He doesn't think it's anything autoimmune. I saw 2 other specialists who disagree so just kind of stuck at the moment.

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To be honest Sophie most of us are stuck one way or another. I’m stuck because I’m sure I have EDS but know I won’t ever get diagnosed now - which means that my neurologist and CTD doctors can say all sorts of things I disagree with but I can’t disprove!

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Well that's true i suppose. Even if you disagree there isn't anything you can do i suppose. X

[Harpie513]

Not exactly. I feel for yo u. At the moment I am a mass of confusing symptoms. I hope all goes well for you. Hang in there.

[Hidden in reply to Harpie513]

Hi harpie. Do you have any idea what is causing your symptoms yet?

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I know. I am trying. It's just frustrating at times. With conflicting opinions from specialists X

[Caramia1964]

Hi agree with what everyone else has said here , sometimes its like a jigsaw puzzle and there is a missing piece, so until that piece is found you can't complete the picture. Auto immune disorders and similar are hard to get a definitive diagnosis for , it can take many years! I first saw a rheumatologist 9 years ago with symptoms and she said I didn't have lupus , but did have joint hypermobility which she said was likely due to fact I did gymnastics when I was younger , to no great degree however! I was found to have osteoarthritis in my neck hands and back after x rays. As the years have passed more symptoms have emerged and I knew something was wrong! I then came out in a rash on my face which they said ( dermatologist ) was acne rosacea , in hind sight it was a lupus rash . I then years after that , with my health deteriorating came out in a rash on my back which nothing cured, I had it for a year before my Gp did a skin biopsy and it confirmed lupus. Then the rheumatologist did bloods which further confirmed the diagnosis. To conclude it took 7 years for me to get confirmation that I did in fact have lupus. So please hang in there, it is excellent that the rheumatologist is referring you to the geneticist, they are not leaving you high and dry. See that as a positive. You will get there, 'find that missing piece of the jigsaw puzzle so to speak ) hugs xx