Can you have "sero-varying" Hughes Syndrome?

My daughter (21) has been unwell with a host of horrible symptoms for the past 6 years - bodywide pain, reduced and varying function in left arm/leg with no neurological explanation, dizziness, extreme fatigue and brain fog, migraines, gut issues etc. She has been diagnosed with Chronic Fatigue, fibromyalgia, Postural orthostatic tachycardia, chronic hypotension, and ehlers-danlos syndrome type III. All of these ft some of her symptoms but not all. Lupus seemed to fit everything, and doctor was surprised when tests came back negative, but she did have positive lupus antecoagulant. Positive again 6 weeks later, but negative 6 weeks after that. She has terrible circulation and always had major problems with canulas, with extreme pain and swelling of the arm. She also gets intermittent bouts of painful swelling, warmth and 'hardening' of her upper arm muscles, associated with some flu-lilke symptoms.

My questions (finally!!) are: could she still have Hughes Syndrome but it somehow not always show up in her tests, or was this just a weird, prolonged viral thing (no other signs of infection or inflammation in bloods)? Also, we have an appointment to see Dr Hughes in September - is it a waste of his time to keep the appointment if she has tested negative? I just feel like we could limp on forever and don't want to pass up the chance of some answers.

Thanks for you time, patience, help, and support,

Floss

Last edited by

12 Replies

oldestnewest
  • Hello the results for Hughes Syndrome can ebb and flow with periods of negative testing even with those with a full diagnosis with previous positive tests. Some people like myself remain stubbornly negative in tests, I have Sero negative Hughes Syndrome, but have had clotting incidents and many of the other clinical symptoms. I also remained negative for Systemic Lupus, despite all the symptoms, but this has now shown up but not until I was 48! It is clear she needs to be seen by somebody with a full working knowledge of Hughes Syndrome/APS. Where are you based, as we do have specialists in the UK listed on the Hughes Syndrome Foundation charity website.

    Be aware also that in many Hughes Syndrome patients, the fibro diagnosis is often undiganosed thyroid issues, frequently missed due to the unreliability of testing and the narrow banding of the tests in the first place. Also Sjogrens is a possibility. Professor Hughes himself writes widely about the trio of disease which is Hughes/Thyroid and Sjogrens. You are both on the right track! Gut issues are also common, a lot of us are on gluten free diets, it is possible to be gluten intolerant without having full Coeliac Disease.

    MaryF

  • Thank you so much MaryF - it is all so confusing! We saw one doctor at the Lupus Centre but he was not good, very dismissive and gave us wrong test results, and had to call back and say she had actually tested positive for the lupus antecoagulant. As I'm sure you have experienced, every bad doctors appointment is like a slap and it is a balancing act between trying to improve her condition, getting some answers and not exposing her to any more "there's nothing wrong with you! ". Sounds like Dr Hughes is a good bet so will keep the appointment. Thanks again - this forum is very special, very nonjudgemental which is wonderful in this zebra-striped world of invisible illnesses.

  • My own daughter has lupus and Hughes, and she too tested Seronegative, she is under both Professor Hughes and St Thomas;s as the dots needed to be joined up, hang in in there, you are nearly there! ard.bmj.com/content/62/12/1... and you will see somewhere on the side a pinned section regarding Seronegative Hughes Syndrome.

    MaryF

  • Most definitely keep that appointment with Prof. I was DX with Fibro and CFS and went on to have a PE and a stroke. I was also seronegative when tested but have since had a strongly positive but have also been dx by three different profs of Immunology now on Clinical history and symptoms including Prof D'Cruz.

    This shows you have to get to the right knowledgable people and once thats done the path is clearer, GP's become more respectful and notes and medications are written up so that everyone can see what should and should not happen. It takes awhile and you have to be determined.

    Become your own advocate, learn about this condition if you can, go on the HSF website and do as much research as you can. It all helps you to be at the same level with the many Dr's you will come into contact with in the years to come.

    In addition I write up a medical CV which goes with me to every medical occasion. it starts with my name and contact details, then allergies. then i list all my different conditions and the doctors or specialists who I am under and their contact details. I then list a bullet point medical history and finally list my medications.

    Without fail everywhere I go they all love it and thank me for doing it. prof khamashta says they should make it compulsory and says he wants one from all his patients :-D

    I then just update it with relevant changes and keep a printed out copy in the hall drawer in case of emergencies.

  • I do like what you say. Agree totally.

    Kerstin

  • I do almost the same. MaryFx

  • Hello Floss

    I owe my life to Prof Hughes.

    I would urge you to keep the appointment and to make sure that you have everything written down and give him a copy to keep, so that there can be no misunderstandings.

    Let us know how you get on.

    Best wishes.

    Dave

  • I agree with all the comments above! I couldn't get anyone to listen to me. I was so ill for a long time, then I met Prof Hughes. He knew exactly what was wrong and got me started on Warfarin immediately. I was so happy to finally get a diagnosis. Be strong and keep fighting to be heard!

    Avril

  • I agree anf absolutely do not cancel your appointment with the Professor! I have had clinical history with positive blood tests, family history of auto immume and now test negative. The Professor has, as Mary and others have said above, joined up the dots and works alongside my GP and Rheumatologist at my local hospital. I now have my diagnosis back and discovered that I have mild Sjogrens too. Stick with it!

  • Hi there,

    I am from Sweden and I know one more person here that has APS. She has travelled to London to see Professor Hughes. She is going to see him twice and is in London at this very moment. She sent me a sms yesterday that she was so happy that she had met him and it was worth every penny.

    If you have this appointment in September you are a very lucky person and I congratulate you to have succeded in finding him.

    Best wishes to you and your daughter from Kerstin in Stockholm

  • Sorry you must wait to September, but seeing Dr Hughes will be a glorious next step!

    In the mean time, we will all be thinking of you and your daughter?

  • Am stunned and touched at your many thoughtful replies - will follow all the advice, keep plugging away and wait patiently (;-)) until September. With thanks and brst wishes, Floss

You may also like...