A thousand questions

Hi - sorry if this rambles on - have a thousand questions regarding possible Hughes Syndrome in my daughter. She was recently tested for Lupus - had miriad of symptoms including facial redness, but the only positive blood test that came back was the Lupus Anticoagulant. Her Cardiolipin IgG was 5.2 which wasn't flagged up, although St Thomas' Hospital on the internet suggests that 2-20 U/ml is a 'low positive'?

Her history is complex: years of severebody-wide pain and tingling, severe fatigue, migranes, mobility issues including sudden onset periods when her arm or leg seem to stop listening, terrible circulation, brain fog etc.

Diagnoses so far have been: Chronic Fatigue Syndrome, Fibromyalgia, Dyautonomia, Postural Orthostatic Tachycardia Syndrome, chronic hypotension, several bouts of Complex REgional Pain Syndrome and Ehler-Danlos Syndrome. She's had a burst appendix and her gall bladder removed after suffering unexplained bouts of severe pain and MONTHS of unexplained vomiting.

Her consultant at the Lupus Centre at London Bridge was surprisingly unhelpful - rang to say all results fine, then rang back and said "oops, actually one was positive - have another blood test in 12 weeks". In his follow up letter he just said that if the second test comes back positive she should take asprin - no mention of follow up.

We have realised that she actually had a positive Lupus Anticoagulant test about 6 weeks previously - GP had done and not specified the result, just said she needed to repeat it in 12 weeks.

I have so many questions - it seems like Hughes Syndrome would explain not only her symptoms but also some weirdnesses in the past, like the two times she had severe problems following canulas, when her arm swelled and was excruciatingly painful and also intermittent myositis in her arm. But we have had "eureka" moments before so don't know what to think.

Can anyone suggest whether her blood results are suggestive of Hughes Syndrome, and whether and where we should follow things up?

Also - I've seen mention of mobility issues which are a real problem for her. She has had nerve test and mri's galore. The only thing to show up was a slight possible shadow on the spinal cord but this did not change so was disregarded. How does Hughes affect mobility?

Sorry to make this so long - have had 5 years of chasing shadows trying to find answers for my beautiful 20-year old but can't give up and 'write her off' until every stone turned.

Thank you for reading this and especially if you have any ideas, suggestions or advice.

x

11 Replies

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  • Hi there, it does sound like Hughes Syndrome/APS, and also you need to be aware of how poor the thyroid testing is, the ranges are narrow and often people are told they are fine and sent away with a diagnosis of 'Fibro'. Often with Hughes Syndrome comes a Thyroid disorder, and there are more detailed tests which can be done. I know APsnotFAB has them all written down! Also they will need to investigate Sjogrens, and it is not unusual to have sero negative Lupus. It does however sound as if you have some medical support solving the various problems for you. Please let us know how you get on. MaryF

  • Hi. I agree with my colleague Mary.

    Please let us know how you get you.

    Best wishes.

    Dave

  • I just wanted to say that I so understand your multiple eureka moments. My 16-year-old daughter and I have been thru 3 years of diagnoses and mis-diagnoses, and sometimes the blood tests seem to bring us close to an answer, but then the doctor won't move because he considers the blood tests aren't conclusive enough. She has some blood tests suggesting lupus or MCTD, some suggesting Hughes, and some physical signs of relapsing polychondritis. I feel like I am slowly going insane trying to make heads or tails of these indicators, whilst the doctors sit on their hands and do nothing. I honestly hope you get some answers here. :-)

  • On the one hand doctors admit that many autoimmune blood tests are associative tests -- i.e., that a certain blood result is often associated with a certain disease, but there is no clear cause and effect so therefore, a positive test can be inconclusive.

    And then, what is maddening for all of us is when these same docs point to these blood tests and say that a negative result "conclusively" means you do or do not have the disease.

    But referring to the cardiolipin antibody test -- these numbers can and do rise and fall in people who do not have Hughes. And this, I presume, is why they want the test repeated in 12 weeks.

  • Who did you see at London Bridge? You should absolutely see either Prof. Hughes or Prof Khamastha!!!

    See this link describing the association of Hughes syndrome and POTS

    lup.sagepub.com/content/ear...

    3 of 16 of the patients had EDS and many had low titer antibodies, but your daughter has two positive tests for APS as well as many of the symptoms

  • "3 of 16 of the patients had EDS and many had low titer antibodies, but your daughter has two positive tests for APS as well as many of the symptoms"

    The link does not appear to provide the full article? (Am I doing something wrong?) Do we need to pay to access this article?

    Does it say about EDS over the article par chance. Salty?

    x

  • Yes, you need to pay to access the article

  • Yes. Thank you. xx

  • If he's asking for another blood test in 12 weeks that sounds like she's tested positive for Hughes once there has to be a second test done to see if the antiphosolopid antibodies are still present, luckily both conditions lupus and Hughes are both diagnosed via blood tests and a lot of the symptoms are identical there are a list of symptoms on the Hughes website of both illnesses, I have both conditions and apparently with lupus there are 11 symptoms to be diagnosed I'm pretty sure you have to have 4 out of the 11, I have 5 and am in the process of being referred to a rheumatologist for help managing the condition, fibromyalgia has very similar symptoms and as I have 2/3 conditions it would be possible to have all 3 conditions I should imagine, I think without complications ie blood clots, stroke etc that'll be the reason the consultant is wanting your daughter on aspirin to minimise the risks rather than warfarin, if you're not sure though ring the consultant up and go through all your questions with them after all that's what they are there for to "consult" - good luck and hope you get answers soon

  • Just wanted to say thank you to everyone on here. Salty, the article was fascinating, thank you! And IHPA - I hear you! Really tough! So wonderful to not feel quite so alone - amazing people here on the forum xxxx

  • Hello, I have just read your post today. I have a very similar near identical set of symptoms and have just been diagnosed with Relapsing Polychondritis, forgive me if you know of this already but it is where your immune system attacks the cartilage all over your body, I also have Hughes syndrome. It's taken many many years to get this diagnosis. It has taken 6 years of being really unwell to get to this point, if you haven't already had a diagnosis please keep pushing and change your rheumatologist. Good luck.

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